PublicationsPublications

 
 
 
 
 
 

2009

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Backx, L.B. Ceulemans J. R. Vermeesch K. Devriendt H. Van Esch (2009).
"Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4."
Eur J Hum Genet 17(3): 378-82.
 
Balikova, I.A. E. Lehesjoki T. J. de Ravel B. Thienpont K. E. Chandler J. Clayton-Smith
A. L. Traskelin J. P. Fryns J. R. Vermeesch (2009).
"Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome."
Hum Mutat 30(9): E845-54.
 
Bartholdi, D.M. Krajewska-Walasek K. Ounap H. Gaspar K. H. Chrzanowska H. Ilyana
H. KayseriliI. W. LurieA. SchinzelA. Baumer (2009).
"Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes."
J Med Genet 46(3): 192-7.
 
Ben-Shachar, S.M. Khajavi M. A. Withers C. A. Shaw H. van Bokhoven H. G. Brunner
J. R. Lupski (2009).
"Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?"
Clin Genet 75(4): 394-400.
 
Bernardini, L.V. Alesi S. Loddo A. Novelli I. Bottillo A. Battaglia M. C. Digilio G. Zampino
A. Ertel P. Fortina S. Surrey B. Dallapiccola
"High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?"
Eur J Hum Genet 18(2): 178-85.
 
Bernardini, L.S. Gimelli C. Gervasini M. Carella A. Baban G. Frontino G. Barbano M. T. Divizia L. Fedele A. Novelli F. Bena F. Lalatta M. Miozzo B. Dallapiccola (2009).
"Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports."
Orphanet J Rare Dis 4: 25.
 
Bernardini, L.L. Sinibaldi A. Capalbo I. Bottillo B. Mancuso B. Torres A. Novelli M. C. Digilio
B. Dallapiccola (2009).
"HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication."
Clin Genet 76(1): 117-9.
 
Bertolino, A.L. Fazio A. Di Giorgio G. Blasi R. Romano P. Taurisano G. Caforio L. Sinibaldi G. Ursini T. Popolizio E. Tirotta A. Papp B. Dallapiccola E. Borrelli W. Sadee (2009).
"Genetically determined interaction between the dopamine transporter and the D2 receptor on prefronto-striatal activity and volume in humans."
J Neurosci 29(4): 1224-34.
 
Bielas, S. L.J. L. Silhavy F. Brancati M. V. Kisseleva L. Al-Gazali L. Sztriha R. A. Bayoumi M. S. Zaki
A. Abdel-Aleem R. O. Rosti H. Kayserili D. Swistun L. C. Scott E. Bertini E. Boltshauser E. Fazzi
L. Travaglini S. J. Field S. Gayral M. Jacoby S. Schurmans B. Dallapiccola P. W. Majerus
E. M. Valente J. G. Gleeson (2009).
"Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies."
Nat Genet 41(9): 1032-6.
 
Bochukova, E. G.N. Huang J. Keogh E. Henning C. Purmann K. Blaszczyk S. Saeed J. Hamilton-Shield J. Clayton-Smith S. O'Rahilly M. E. HurlesI. S. Farooqi
 "Large, rare chromosomal deletions associated with severe early-onset obesity."
Nature 463(7281): 666-70.
 
Bonetti, M.C. Barzaghi F. Brancati A. Ferraris E. Bellacchio A. Giovanetti T. Ialongo G. Zorzi C. Piano
M. Petracca A. Albanese N. Nardocci B. Dallapiccola A. R. Bentivoglio B. Garavaglia E. M. Valente (2009).
"Mutation screening of the DYT6/THAP1 gene in Italy."
Mov Disord 24(16): 2424-7.
 
Bonetti, M.A. Ferraris M. Petracca A. R. Bentivoglio B. Dallapiccola E. M. Valente (2009).
"GIGYF2 variants are not associated with Parkinson's disease in Italy."
Mov Disord 24(12): 1867-8; author reply 1868-9.
 
Borgatti, R.S. Marelli L. Bernardini A. Novelli A. Cavallini A. Tonelli M. T. Bassi B. Dallapiccola (2009). "Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene."
Clin Genet 76(6): 573-6.
 
Bornholdt, D.F. Oeffner A. Konig R. Happle Y. Alanay J. Ascherman P. J. Benke C. Boente Mdel
I. van der Burgt N. Chassaing I. Ellis C. R. Francisco P. Della Giovanna B. Hamel C. Has K. Heinelt
A. Janecke W. Kastrup B. Loeys I. Lohrisch C. Marcelis Y. Mehraein M. E. Nicolas D. Pagliarini M. Paradisi A. Patrizi M. Piccione H. Piza-Katzer B. Prager K. Prescott J. Strien G. E. Utine M. S. Zeller
K. H. Grzeschik (2009).
"PORCN mutations in focal dermal hypoplasia: coping with lethality."
Hum Mutat 30(5): E618-28.
 
Bottillo, I.T. Ahlquist H. Brekke S. A. Danielsen E. van den Berg F. Mertens R. A. Lothe B. Dallapiccola (2009).
"Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours."
J Pathol 217(5): 693-701.
 
Brancati, F.L. BernardiniD. P. CavalcantiC. RomanoA. Novelli B. Dallapiccola (2009).
"Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome."
Clin Genet 76(2): 210-3.
 
Brancati, F.M. Iannicelli L. Travaglini A. Mazzotta E. Bertini E. Boltshauser S. D'Arrigo F. Emma
E. Fazzi R. Gallizzi M. Gentile D. Loncarevic V. Mejaski-Bosnjak C. Pantaleoni L. Rigoli C. D. Salpietro
S. Signorini G. R. Stringini A. Verloes D. Zabloka B. Dallapiccola J. G. Gleeson E. M. Valente (2009). "MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement."
Hum Mutat 30(2): E432-42.
 
Breckpot, J.B. Thienpont C. Vanhole E. Van Rossem D. Van Schoubroeck J. P. Fryns L. Lagae
G. Buyse K. Devriendt (2009).
"Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?"
Clin Dysmorphol 18(4): 195-200.
 
Burkitt Wright, E. M.R. Perveen P. E. Clayton C. M. Hall T. Costa A. M. Procter C. A. Giblin D. Donnai
G. C. Black (2009).
"X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions."
Clin Dysmorphol 18(4): 218-21.
 
Chessa, L.M. Piane M. Magliozzi I. Torrente C. Savio P. Lulli A. De Luca B. Dallapiccola (2009). "Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families."
Ann Hum Genet 73(Pt 5): 532-9.
 
Ciara, E.D. Piekutowska-Abramczuk E. Popowska W. Grajkowska S. Barszcz D. Perek B. Dembowska-Baginska M. Perek-Polnik E. Kowalewska A. Czajnska M. Syczewska K. Czornak
M. Krajewska-Walasek M. Roszkowski K. H. Chrzanowska (2009).
"Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients."
Acta Neuropathol.
 
Cirstea, I. C.K. Kutsche R. Dvorsky L. Gremer C. Carta D. Horn A. E. Roberts F. Lepri T.
Merbitz-Zahradnik R. Konig C. P. Kratz F. Pantaleoni M. L. Dentici V. A. Joshi R. S. Kucherlapati
L. Mazzanti S. Mundlos M. A. Patton M. C. Silengo C. Rossi G. Zampino C. Digilio L. Stuppia
E. Seemanova L. A. Pennacchio B. D. Gelb B. Dallapiccola A. Wittinghofer M. R. Ahmadian
M. TartagliaM. Zenker
"A restricted spectrum of NRAS mutations causes Noonan syndrome."
Nat Genet 42(1): 27-9.
 
Clayton-Smith, J. S.Walters E. Hobson E. Burkitt-Wright R. Smith A. Toutain J. Amiel S. Lyonnet
S. Mansour D. Fitzpatrick R. Ciccone I. Ricca O. Zuffardi D. Donnai (2009).
"Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance." Eur J Hum Genet 17(4): 434-43.
 
Cole, R. L.E. R. Van Ross J. Clayton-Smith (2009).
"Fibular aplasia in a child exposed to sodium valproate in pregnancy."
Clin Dysmorphol 18(1): 37-9.
 
Cordeddu, V.E. Di Schiavi L. A. Pennacchio A. Ma'ayan A. Sarkozy V. Fodale S. Cecchetti A. Cardinale J. Martin W. Schackwitz A. Lipzen G. Zampino L. Mazzanti M. C. Digilio S. Martinelli E. Flex F. Lepri
D. Bartholdi K. Kutsche G. B. Ferrero C. Anichini A. Selicorni C. Rossi R. Tenconi M. Zenker D. Merlo
B. Dallapiccola R. Iyengar P. Bazzicalupo B. D. Gelb M. Tartaglia (2009).
"Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair."
Nat Genet 41(9): 1022-6.
 
Czarny-Ratajczak, M.K. Chrzanowska T. Bieganski J. Sulko D. Baranska B. Kocyla-Karczmarewicz
L. Kuszel L. Jakubowski K. Niedzielski K. Kozlowski (2009).
"Severe neonatal spondylometaphyseal dysplasia in two siblings."
Am J Med Genet A 149A(10): 2166-72.
 
Dallapiccola, B. L. Bernardini A. Novelli R. Mingarelli (2009).
"Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3."
Am J Med Genet A 149A(12): 2867-70.
 
Dallapiccola, B. L. Bernardini A. Novelli R. Mingarelli (2009).
"Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1."
Am J Med Genet A 149A(3): 546-8.
 
Dallapiccola, B. M. C. Digilio A. Zatterale R. Galeone R. Capolino R. Mingarelli (2009).
"Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome."
Clin Dysmorphol 18(3): 135-8.
 
Dallapiccola, B. I. Torrente E. Agolini A. Morena R. Mingarelli (2009).
"A Nationwide Genetic Testing Survey in Italy, Year 2007."
Genet Test Mol Biomarkers.
 
De Luca, A.A. Sarkozy F. Consoli A. De Zorzi R. Mingarelli M. C. Digilio B. Marino B. Dallapiccola (2009).
"Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man."
Int J Cardiol.
 
De Luca, A.A. Sarkozy F. Consoli R. Ferese V. Guida M. L. Dentici R. Mingarelli E. Bellacchio G. Tuo
G. Limongelli M. C. Digilio B. Marino B. Dallapiccola (2009).
"Familial transposition of great arteries caused by multiple mutations in laterality genes."
Heart.
 
de Ravel, T. J.L. Ameye K. Ballon M. Borghgraef J. R. Vermeesch K. Devriendt (2009).
"Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome."
Eur J Med Genet 52(2-3): 145-7.
 
Dembowska-Baginska, B.D. Perek A. Brozyna A. Wakulinska D. Olczak-Kowalczyk M. Gladkowska-Dura W. Grajkowska K. H. Chrzanowska (2009).
"Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)."
Pediatr Blood Cancer 52(2): 186-90.
 
Dentici, M. L.F. Brancati R. Mingarelli B. Dallapiccola (2009).
"A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors."
Eur J Med Genet 52(6): 421-5.
 
Dentici, M. L.A. Sarkozy F. Pantaleoni C. Carta F. Lepri R. Ferese V. Cordeddu S. Martinelli S. Briuglia
M. C. Digilio G. Zampino M. Tartaglia B. Dallapiccola (2009).
"Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations."
Eur J Hum Genet 17(6): 733-40.
 
Deprest, J. A.R. Devlieger K. Srisupundit V. Beck I. Sandaite S. Rusconi F. Claus G. Naulaers M. Van de Velde P. Brady K. Devriendt J. Vermeesch J. Toelen M. Carlon Z. Debyser L. De Catte L. Lewi
"Fetal surgery is a clinical reality."
Semin Fetal Neonatal Med 15(1): 58-67.
 
Digilio, M. C.L. Bernardini A. Capalbo R. Capolino M. G. Gagliardi B. Marino A. Novelli B. Dallapiccola (2009).
"16p subtelomeric duplication: a clinically recognizable syndrome."
Eur J Hum Genet 17(9): 1135-40.
 
Digilio, M. C.L. Bernardini R. Mingarelli R. Capolino A. Capalbo M. G. Giuffrida P. Versacci A. Novelli
B. Dallapiccola (2009).
"3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs."
Am J Med Genet A 149A(8): 1777-81.
 
Digilio, M. C.D. M. McDonald-McGinn C. Heike C. Catania B. Dallapiccola B. Marino E. H. Zackai (2009).
"Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2."
Am J Med Genet A 149A(12): 2860-4.
 
Donnai, D. (2009).
"Advances in dysmorphology: from diagnosis to treatment."
Clin Med 9(2): 154-5.
 
Douzgou, S.R. Mingarelli B. Dallapiccola (2009).
"Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview."
Clin Dysmorphol 18(4): 205-8.
 
Esposito, G.G. Grutter F. Drago M. W. Costa A. De Santis G. Bosco B. Marino E. Bellacchio F. Lepri
R. P. Harvey A. Sarkozy B. Dallapiccola (2009).
"Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection."
Am J Med Genet A 149A(7): 1574-7.
 
Ferraris, A.T. Ialongo G. C. Passali M. T. Pellecchia L. Brusa M. Laruffa A. Guidubaldi G. Paludetti
A. Albanese P. Barone B. Dallapiccola E. M. Valente A. R. Bentivoglio (2009).
"Olfactory dysfunction in Parkinsonism caused by PINK1 mutations."
Mov Disord 24(16): 2350-7.
 
Giorda, R.M. C. Bonaglia S. Beri M. Fichera F. Novara P. Magini J. Urquhart F. H. Sharkey C. Zucca
R. Grasso S. Marelli L. Castiglia D. Di Benedetto S. A. Musumeci G. A. Vitello P. Failla S. Reitano E. Avola F. Bisulli P. Tinuper M. Mastrangelo I. Fiocchi L. Spaccini C. Torniero E. Fontana S. A. Lynch
J. Clayton-Smith G. Black P. Jonveaux B. Leheup M. Seri C. Romano B. dalla Bernardina O. Zuffardi (2009).
"Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females."
Am J Hum Genet 85(3): 394-400.
 
Giordano, L.A. Vignoli L. Pinelli F. Brancati P. Accorsi F. Faravelli R. Gasparotti T. Granata G. Giaccone F. Inverardi C. Frassoni B. Dallapiccola E. M. Valente R. Spreafico (2009). "Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers." Am J Med Genet A 149A(7): 1511-5.
 
Grajkowska, W.D. Piekutowska-Abramczuk E. Ciara B. Dembowska-Baginska D. Perek M. Roszkowski P. Daszkiewicz E. Matyja M. Pronicki K. H. Chrzanowska (2009).
"Ganglioglioma associated with alterations of NBN gene. A case report."
Folia Neuropathol 47(3): 278-83.
 
Gregorek, H.D. Olczak-Kowalczyk B. Dembowska-Baginska B. Pietrucha A. Wakulinska D. Gozdowski
K. H. Chrzanowska (2009).
"Oral findings in patients with Nijmegen breakage syndrome: a preliminary study."
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 108(5): e39-45.
 
Gremer, L.A. De Luca T. Merbitz-Zahradnik B. Dallapiccola S. Morlot M. Tartaglia K. Kutsche
M. R. Ahmadian G. Rosenberger
"Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation."
Hum Mol Genet 19(5): 790-802.
 
Grocock, C. J.V. Rebours M. Delhaye A. Andren-Sandberg F. U. Weiss R. Mountford M. Harcus
E. Niemczyck L. Vitone S. Dodd M. T. Joergensen R. W. Ammann O. Schaffalitzky de Muckadell
J. V. Butler P. Burgess B. Kerr R. Charnley R. Sutton M. Raraty J. Deviere D. Whitcomb
J. Neoptolemos P. Levy M. M. Lerch W. Greenhalf (2009).
"The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families." Gut.
 
Gupta, A.P. Vasudevan S. Biswas J. C. Smith A. T. Moore C. Lloyd G. Dutton (2009).
"Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature."
Ophthalmic Genet 30(4): 157-60.
 
Hoque, M. O.M. Prencipe M. L. Poeta R. Barbano V. M. Valori M. Copetti A. P. Gallo M. Brait E. Maiello A. Apicella R. Rossiello F. Zito T. Stefania A. Paradiso M. Carella B. Dallapiccola R. Murgo I. Carosi
M. Bisceglia V. M. Fazio D. Sidransky P. Parrella (2009).
"Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression." Cancer Epidemiol Biomarkers Prev 18(10): 2694-700.
 
Imielinski, M.R. N. Baldassano A. Griffiths R. K. Russell V. Annese M. Dubinsky S. Kugathasan
J. P. Bradfield T. D. Walters P. Sleiman C. E. Kim A. Muise K. Wang J. T. Glessner S. Saeed H. Zhang
E. C. Frackelton C. Hou J. H. Flory G. Otieno R. M. Chiavacci R. Grundmeier M. Castro A. Latiano
B. Dallapiccola J. Stempak D. J. Abrams K. Taylor D. McGovern G. Silber I. Wrobel A. Quiros
J. C. Barrett S. Hansoul D. L. Nicolae J. H. Cho R. H. Duerr J. D. Rioux S. R. Brant M. S. Silverberg
K. D. Taylor M. M. Barmuda A. Bitton T. Dassopoulos L. W. Datta T. Green A. M. Griffiths E. O. Kistner M. T. Murtha M. D. Regueiro J. I. Rotter L. P. Schumm A. H. Steinhart S. R. Targan R. J. Xavier
C. Libioulle C. Sandor M. Lathrop J. Belaiche O. Dewit I. Gut S. Heath D. Laukens M. Mni P. Rutgeerts
A. Van Gossum D. Zelenika D. Franchimont J. P. Hugot M. de Vos S. Vermeire E. Louis L. R. Cardon
C. A. Anderson H. Drummond E. Nimmo T. Ahmad N. J. Prescott C. M. Onnie S. A. Fisher J. Marchini
J. Ghori S. Bumpstead R. Gwillam M. Tremelling P. Delukas J. Mansfield D. Jewell J. Satsangi
C. G. Mathew M. Parkes M. Georges M. J. Daly M. B. Heyman G. D. Ferry B. Kirschner J. Lee
J. Essers R. Grand M. Stephens A. Levine D. Piccoli J. Van Limbergen S. Cucchiara D. S. Monos
S. L. Guthery L. Denson D. C. Wilson S. F. Grant M. Daly H. Hakonarson (2009).
"Common variants at five new loci associated with early-onset inflammatory bowel disease."
Nat Genet 41(12): 1335-40.
 
Jenkins, Z. A.M. van Kogelenberg T. Morgan A. Jeffs R. Fukuzawa E. Pearl C. Thaller A. V. Hing
M. E. Porteous S. Garcia-Minaur A. Bohring D. Lacombe F. Stewart T. Fiskerstrand L. Bindoff
S. Berland L. C. Ades M. Tchan A. David L. C. Wilson R. C. Hennekam D. Donnai S. Mansour V. Cormier-Daire S. P. Robertson (2009).
"Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis."
Nat Genet 41(1): 95-100.
 
Jezela-Stanek, A.A. Dobrzanska D. Maksym-Gasiorek W. Trzeciakowski A. Gutkowska D. Olczak-Kowalczyk M. Gajdulewicz K. Spodar J. Czech-Kowalska M. Krajewska-Walasek (2009).
"Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome."
Clin Dysmorphol 18(1): 13-7.
 
Jezela-Stanek, A.C. Fisher M. Szarras-Czapnik D. Olczak-Kowalczyk R. J. Gibbons J. Slowikowska-Hilczer M. Krajewska-Walasek (2009).
"X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene."
Clin Dysmorphol 18(3): 168-71.
 
Jongmans, M. C.C. M. van Ravenswaaij-Arts N. Pitteloud T. Ogata N. Sato H. L. Claahsen-van der Grinten K. van der Donk S. Seminara J. E. Bergman H. G. Brunner W. F. Crowley, Jr.L. H. Hoefsloot (2009).
"CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome."
Clin Genet 75(1): 65-71.
 
Kets, C. M.N. Hoogerbrugge J. H. van Krieken M. Goossens H. G. Brunner M. J. Ligtenberg (2009). "Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2."
Eur J Hum Genet 17(2): 159-64.
 
Kirk, E. P.V. Malaty-Brevaud N. Martini C. Lacoste N. Levy K. Maclean L. Davies N. Philip C. Badens (2009).
"The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA."
Clin Genet 75(3): 301-3.
 
Kleefstra, T.W. A. van Zelst-Stams W. M. Nillesen V. Cormier-Daire G. Houge N. Foulds
M. van Dooren M. H. Willemsen R. Pfundt A. Turner M. Wilson J. McGaughran A. Rauch M. Zenker
M. P. Adam M. Innes C. Davies A. G. Lopez R. Casalone A. Weber L. A. Brueton A. D. Navarro
M. P. Bralo H. Venselaar S. P. Stegmann H. G. Yntema H. van Bokhoven H. G. Brunner (2009).
"Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype."
J Med Genet 46(9): 598-606.
 
Koolen, D. A.R. Pfundt N. de Leeuw J. Y. Hehir-Kwa W. M. Nillesen I. NeefsI. Scheltinga E. Sistermans D. Smeets H. G. Brunner A. G. van Kessel J. A. Veltman B. B. de Vries (2009).
"Genomic microarrays in mental retardation: a practical workflow for diagnostic applications."
Hum Mutat 30(3): 283-92.
 
Kooper, A. J.B. H. Faas T. Feuth J. W. Creemers H. H. Zondervan P. F. Boekkooi R. W. Quartero R. J. Rijnders I. van der Burgt A. G. van Kessel A. P. Smits (2009).
"Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification."
J Mol Diagn 11(1): 17-24.
 
Lacbawan, F.B. D. Solomon E. Roessler K. El-Jaick S. Domene J. I. Velez N. Zhou D. Hadley
J. Z. Balog R. Long A. Fryer W. Smith S. Omar S. D. McLean K. Clarkson A. Lichty N. J. Clegg
M. R. Delgado E. Levey E. Stashinko L. Potocki M. I. Vanallen J. Clayton-Smith D. DonnaiD.   
W. Bianchi P. B. Juliusson P. R. Njolstad H. G. Brunner J. C. Carey U. Hehr J. Musebeck
P. F. Wieacker A. Postra R. C. Hennekam M. J. van den Boogaard A. van Haeringen A. Paulussen
J. Herbergs C. T. Schrander-Stumpel A. R. Janecke D. Chitayat J. Hahn D. M. McDonald-McGinn
E. H. Zackai W. B. Dobyns M. Muenke (2009).
"Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function."
J Med Genet 46(6): 389-98.
 
Landsbergen, K. M.J. B. Prins H. G. Brunner F. W. Kraaimaat N. Hoogerbrugge (2009).
"Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact."
Fam Cancer 8(4): 325-37.
 
Landsbergen, K. M.J. B. Prins Y. J. Kamm H. G. Brunner N. Hoogerbrugge (2009).
"Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years." Fam Cancer.
 
Latiano, A.O. Palmieri S. Cucchiara M. Castro R. D'Inca G. Guariso B. Dallapiccola M. R. Valvano
T. Latiano A. Andriulli V. Annese (2009).
"Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn's disease."
Am J Gastroenterol 104(1): 110-6.
 
 
 
Ligtenberg, M. J.R. P. Kuiper T. L. Chan M. Goossens K. M. Hebeda M. Voorendt T. Y. Lee D. Bodmer
E. Hoenselaar S. J. Hendriks-Cornelissen W. Y. Tsui C. K. Kong H. G. Brunner  A. G. van Kessel S. T. Yuen J. H. van Krieken S. Y. Leung N. Hoogerbrugge (2009).
"Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1."
Nat Genet 41(1): 112-7.
 
Lins, S.R. Kim L. Kruger K. H. Chrzanowska E. Seemanova M. Digweed (2009).
"Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome."
Gene 447(1): 12-7.
 
Marongiu, R.B. Spencer L. Crews A. Adame C. Patrick M. Trejo B. Dallapiccola E. M. Valente E. Masliah (2009). "Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux."
J Neurochem 108(6): 1561-74.
 
Masotti, A.V. Caputo L. Da Sacco A. Pizzuti B. Dallapiccola G. F. Bottazzo (2009).
"Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles." J Biomed Biotechnol 2009: 659028.
 
Mawer, G.M. Briggs G. A. Baker R. Bromley H. Coyle J. Eatock L. Kerr U. Kini L. Kuzmyshcheva
S. B. Lucas L. Wyatt J. Clayton-Smith (2009).
"Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study."
Seizure.
 
Meador, K. J.G. A. Baker N. Browning J. Clayton-Smith D. T. Combs-Cantrell M. Cohen
L. A. Kalayjian A. Kanner J. D. Liporace P. B. Pennell M. Privitera D. W. Loring (2009).
"Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs."
N Engl J Med 360(16): 1597-605.
 
Mignon-Ravix, C.P. Cacciagli B. El-Waly A. Moncla M. Milh N. Girard B. Chabrol N. Philip L. Villard (2009).
"Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia."
J Med Genet.
 
Morini, E.S. Prudente E. Succurro M. Chandalia Y. Y. Zhang S. Mammarella F. Pellegrini C. Powers
V. Proto B. Dallapiccola A. Cama G. Sesti N. Abate A. Doria V. Trischitta (2009).
"IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants."
Diabetologia 52(9): 1852-7.
 
Neumann, T. E.J. Allanson I. Kavamura B. Kerr G. Neri J. Noonan V. Cordeddu K. Gibson A. Tzschach G. Kruger M. Hoeltzenbein T. O. Goecke H. G. Kehl B. Albrecht K. Luczak M. M. Sasiadek L. Musante
R. Laurie H. Peters M. Tartaglia M. Zenker V. Kalscheuer (2009).
"Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome."
Eur J Hum Genet 17(4): 420-5.
 
Oti, M.M. A. Huynen H. G. Brunner (2009).
"The biological coherence of human phenome databases."
Am J Hum Genet 85(6): 801-8.
 
Parrella, P.A. la Torre M. Copetti V. M. Valori R. Barbano A. Notarangelo M. Bisceglia A. P. Gallo
T. Balsamo M. L. Poeta M. Carella D. Catapano S. Parisi B. Dallapiccola E. Maiello V. D'Angelo
V. M. Fazio (2009).
"High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas."
J Biomed Biotechnol 2009: 531692.
 
Piekutowska-Abramczuk, D.E. Ciara E. Popowska W. Grajkowska B. Dembowska-Baginska
E. Kowalewska A. Czajnska M. Perek-Polnik M. Roszkowski M. Syczewska M. Krajewska-Walasek
D. Perek K. H. Chrzanowska
"The frequency of NBN molecular variants in pediatric astrocytic tumors."
J Neurooncol 96(2): 161-8.
 
Piekutowska-Abramczuk, D.M. Magner E. Popowska M. Pronicki E. Karczmarewicz J. Sykut-Cegielska
T. Kmiec E. Jurkiewicz T. Szymanska-Debinska L. Bielecka M. Krajewska-Walasek K. Vesela J. Zeman E. Pronicka (2009).
"SURF1 missense mutations promote a mild Leigh phenotype."
Clin Genet 76(2): 195-204.
 
Piekutowska-Abramczuk, D.E. Popowska M. Pronicki E. Karczmarewicz D. Tylek-Lemanska J. Sykut-Cegielska T. Szymanska-Dembinska L. Bielecka M. Krajewska-Walasek E. Pronicka (2009).
"High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients."
Eur J Paediatr Neurol 13(2): 146-53.
 
Pilotto, A.F. Addante L. Ferrucci G. Leandro G. D'Onofrio M. Corritore V. Niro C. Scarcelli
B. Dallapiccola M. Franceschi (2009).
"The multidimensional prognostic index predicts short- and long-term mortality in hospitalized geriatric patients with pneumonia."
J Gerontol A Biol Sci Med Sci 64(8): 880-7.
 
Pilotto, A.F. Addante M. Franceschi G. Leandro G. Rengo P. D'Ambrosio M. G. Longo F. Rengo
F. Pellegrini B. Dallapiccola L. Ferrucci
"Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure."
Circ Heart Fail 3(1): 14-20.
 
Pilotto, A.M. Franceschi G. D'Onofrio A. Bizzarro F. Mangialasche L. Cascavilla F. Paris M. G. Matera
A. Daniele P. Mecocci C. Masullo B. Dallapiccola D. Seripa (2009).
"Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease." Neurology 73(10): 761-7.
 
Pilotto, A.M. G. Matera L. Ferrucci D. Sancarlo G. Leandro G. D'Onofrio D. Seripa F. Addante
M. Franceschi B. Dallapiccola (2009).
"Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients."
Rejuvenation Res 12(4): 239-47.
 
Pilotto, A.D. Sancarlo F. Panza F. Paris G. D'Onofrio L. Cascavilla F. Addante D. Seripa V. Solfrizzi
B. Dallapiccola M. Franceschi L. Ferrucci (2009).
"The Multidimensional Prognostic Index (MPI), based on a comprehensive geriatric assessment predicts short- and long-term mortality in hospitalized older patients with dementia."
J Alzheimers Dis 18(1): 191-9.
 
Prontera, P.L. Bernardini G. Stangoni A. Capalbo D. Rogaia C. Ardisia A. Novelli B. Dallapiccola E. Donti (2009).
"2q31.2q32.3 deletion syndrome: report of an adult patient."
Am J Med Genet A 149A(4): 706-12.
 
Prudente, S.D. Scarpelli M. Chandalia Y. Y. Zhang E. Morini S. Del Guerra F. Perticone R. Li C. Powers F. Andreozzi P. Marchetti B. Dallapiccola N. Abate A. Doria G. Sesti V. Trischitta (2009).
"The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes."
J Clin Endocrinol Metab 94(1): 190-6.
 
Randall, V.K. McCue C. Roberts V. Kyriakopoulou S. Beddow A. N. Barrett F. Vitelli K. Prescott
C. Shaw-Smith K. Devriendt E. Bosman G. Steffes K. P. Steel S. Simrick M. A. Basson E. Illingworth
P. J. Scambler (2009).
"Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice."
J Clin Invest 119(11): 3301-10.
 
Reversade, B.N. Escande-Beillard A. Dimopoulou B. Fischer S. C. Chng Y. Li M. Shboul P. Y. Tham
H. Kayserili L. Al-Gazali M. Shahwan F. Brancati H. Lee B. D. O'Connor M. Schmidt-von Kegler
B. Merriman S. F. Nelson A. Masri F. Alkazaleh D. Guerra P. Ferrari A. Nanda A. Rajab D. Markie
M. Gray J. Nelson A. Grix A. Sommer R. Savarirayan A. R. Janecke E. Steichen D. Sillence I. Hausser
B. Budde G. Nurnberg P. Nurnberg P. Seemann D. Kunkel G. Zambruno B. Dallapiccola M. Schuelke
S. Robertson H. Hamamy B. Wollnik L. Van Maldergem S. Mundlos U. Kornak (2009).
"Mutations in PYCR1 cause cutis laxa with progeroid features."
Nat Genet 41(9): 1016-21.
 
Saillour, Y.N. Carion C. Quelin P. L. Leger N. Boddaert C. Elie A. Toutain S. Mercier M. A. Barthez M. Milh
S. Joriot V. des Portes N. Philip D. Broglin A. Roubertie G. Pitelet M. L. Moutard J. M. Pinard C. Cances A. Kaminska J. Chelly C. Beldjord N. Bahi-Buisson (2009). "LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity." Arch Neurol 66(8): 1007-15.
 
Salpietro, C. D.S. Briuglia M. C. Cutrupi R. Gallizzi L. Rigoli B. Dallapiccola (2009).
"Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia."
Am J Med Genet A 149A(10): 2270-3.
 
Sarkozy, A.C. Carta S. Moretti G. Zampino M. C. Digilio F. Pantaleoni A. P. Scioletti G. Esposito
V. Cordeddu F. Lepri V. Petrangeli M. L. Dentici G. M. Mancini A. Selicorni C. Rossi L. Mazzanti
B. Marino G. B. Ferrero M. C. Silengo L. Memo F. Stanzial F. Faravelli L. Stuppia E. Puxeddu
B. D. Gelb B. Dallapiccola M. Tartaglia (2009).
"Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum."
Hum Mutat 30(4): 695-702.
 
Seripa, D.F. Panza M. Franceschi G. D'Onofrio V. Solfrizzi B. Dallapiccola A. Pilotto (2009).
"Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease."
Ageing Res Rev 8(3): 214-36.
 
Sole, G.I. Coupry C. Rooryck E. Guerineau F. Martins S. Deves C. Hubert N. Souakri O. Boute
C. MarchalL. Faivre E. Landre S. Debruxelles A. Dieux-Coeslier C. Boulay S. Chassagnon V. Michel
M. C. Routon A. Toutain N. Philip D. Lacombe L. Villard B. Arveiler C. Goizet (2009).
"Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations."
J Neurol Neurosurg Psychiatry 80(12): 1394-8.
 
Thienpont, B.F. Bena J. Breckpot N. Philip B. Menten H. Van Esch E. Scalais J. Salamone C. T. Fong
J. L. KussmannD. K. GrangeJ. GorskiF. ZahirS. L. YongM. M. MorrisS. GimelliJ. P. FrynsG. MortierJ. M. Friedman L. Villard A. Bottani J. R. Vermeesch S. W. Cheung K. Devriendt (2009).
"Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome."
J Med Genet.
 
Thienpont, B.F. Bena J. Breckpot N. Philip B. Menten H. Van Esch E. Scalais J. Salamone C. T. Fong
J. L. Kussmann D. K. Grange J. Gorski F. Zahir S. L. Yong M. M. Morris S. Gimelli J. P. Fryns G. Mortier J. M. Friedman L. Villard A. Bottani J. R. Vermeesch S. W. Cheung K. Devriendt (2009).
"Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome."
J Med Genet.
 
Thienpont, B.E. Dimitriadou K. Theodoropoulos J. Breckpot H. Fryssira S. Kitsiou-Tzeli M. Tzoufi
J. R. Vermeesch M. Syrrou K. Devriendt (2009).
"Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1."
Eur J Med Genet 52(6): 393-7.
 
Travaglini, L.F. Brancati T. Attie-Bitach S. Audollent E. Bertini J. Kaplan I. Perrault M. Iannicelli
B. Mancuso L. Rigoli J. M. Rozet D. Swistun J. Tolentino B. Dallapiccola J . G. Gleeson E. M. Valente
A. Zankl R. Leventer P. Grattan-Smith A. Janecke M. D'Hooghe Y. Sznajer R. Van Coster L. Demerleir
K. Dias C. Moco A. Moreira C. A. Kim G. Maegawa D. Petkovic G. M. Abdel-Salam A. Abdel-Aleem
M. S. ZakiI. Marti S. Quijano-Roy S. Sigaudy P. de Lonlay S. Romano R. Touraine M. Koenig C. Lagier-Tourenne J. Messer P. Collignon N. Wolf H. Philippi S. Kitsiou Tzeli S. Halldorsson J. Johannsdottir
P. Ludvigsson S. R. Phadke V. Udani B. Stuart A. Magee D. Lev M. Michelson B. Ben-Zeev R. Fischetto F. Benedicenti F. Stanzial R. Borgatti P. Accorsi S. Battaglia E. Fazzi L. Giordano L. Pinelli L. Boccone
S. Bigoni A. Ferlini M. A. Donati G. Caridi M. T. Divizia F. Faravelli G. Ghiggeri A. Pessagno M. Briguglio S. Briuglia C. D. Salpietro G. Tortorella A. Adami P. Castorina F. Lalatta G. Marra D. Riva B. Scelsa
L. Spaccini G. Uziel E. Del Giudice A. M. Laverda K. Ludwig A. Permunian A. Suppiej S. Signorini
C. Uggetti R. Battini M. Di Giacomo M. R. Cilio M. L. Di Sabato V. Leuzzi P. Parisi M. Pollazzon
M. Silengo R. De Vescovi D. Greco C. Romano M. Cazzagon A. Simonati A. A. Al-Tawari L. Bastaki
A. Megarbane V. Sabolic Avramovska M. M. de Jong P. Stromme R. Koul A. Rajab M. Azam C. Barbot
L. Martorell Sampol B. Rodriguez I. Pascual-Castroviejo S. Teber B. Anlar S. Comu E. Karaca
H. Kayserili A. Yuksel M. Akcakus L. Al Gazali L. Sztriha D. Nicholl C. G. Woods C. Bennett J. Hurst
E. Sheridan A. Barnicoat R. Hennekam M. Lees E. Blair S. Bernes H. Sanchez A. E. Clark E. DeMarco
C. Donahue E. Sherr J. Hahn T. D. Sanger T. E. Gallager W. B. Dobyns C. Daugherty
K. S. Krishnamoorthy D. Sarco C. A. Walsh T. McKanna J. Milisa W. K. Chung D. C. De Vivo H. Raynes R. Schubert A. Seward D. G. Brooks A. Goldstein J. Caldwell E. Finsecke B. L. Maria K. Holden
R. P. Cruse K. J. Swoboda D. Viskochil (2009).
"Expanding CEP290 mutational spectrum in ciliopathies."
Am J Med Genet A 149A(10): 2173-80.
 
Urquhart, J.G. C. Black J. Clayton-Smith (2009).
"4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate." Eur J Med Genet 52(6): 454-7.
 
van Bon, B. W.D. A. Koolen L. Brueton D. McMullan K. D. Lichtenbelt L. C. Ades G. Peters K. Gibson F. Novara T. Pramparo B. Dalla Bernardina L. Zoccante U. Balottin F. Piazza V. Pecile P. Gasparini
V. Guerci M. Kets R. Pfundt A. P. de Brouwer J. A. Veltman N. de Leeuw M. Wilson J. Antony
S. Reitano D. Luciano M. Fichera C. Romano H. G. Brunner O. Zuffardi B. B. de Vries
"The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype."
Eur J Hum Genet 18(2): 163-70.
 
van Bon, B. W.H. C. Mefford B. Menten D. A. Koolen A. J. Sharp W. M. Nillesen J. W. Innis
T. J. de Ravel C. L. Mercer M. Fichera H. Stewart L. E. Connell K. Ounap K. Lachlan B. Castle N. Van der Aa C. van Ravenswaaij M. A. Nobrega C. Serra-JuheI. Simonic N. de Leeuw R. Pfundt E. M. Bongers
C. Baker P. Finnemore S. Huang V. K. Maloney J. A. Crolla M. van Kalmthout M. Elia G. Vandeweyer
J. P. Fryns S. Janssens N. Foulds S. Reitano K. Smith S. Parkel B. Loeys C. G. Woods A. Oostra
F. Speleman A. C. Pereira A. Kurg L. Willatt S. J. Knight J. R. Vermeesch C. Romano J. C. Barber
G. Mortier L. A. Perez-Jurado F. Kooy H. G. Brunner E. E. Eichler T. Kleefstra B. B. de Vries (2009). "Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome."
J Med Genet 46(8): 511-23.
 
Velinov, M.A. Novelli H. Gu M. Fenko N. Dolzhanskaya L. Bernardini A. Capalbo B. Dallapiccola
E. C. Jenkins W. T. Brown (2009).
"De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation."
Clin Dysmorphol 18(1): 9-12.
 
Verhoeven, W. M.S. Tuinier H. J. Kuijpers J. I. Egger H. G. Brunner (2009).
"Psychiatric Profile in Rubinstein-Taybi Syndrome. A Review and Case Report."
Psychopathology 43(1): 63-68.
 
Vissers, L. E.S. S. Bhatt I. M. Janssen Z. Xia S. R. Lalani R. Pfundt K. Derwinska B. B. de Vries
C. Gilissen A. Hoischen M. Nesteruk B. Wisniowiecka-Kowalnik M. Smyk H. G. Brunner S. W. Cheung
A. G. van Kessel J. A. Veltman P. Stankiewicz (2009).
"Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture."
Hum Mol Genet 18(19): 3579-93.
 
Wingbermuehle, E.J. Egger I. van der Burgt W. Verhoeven (2009).
"Neuropsychological and behavioral aspects of noonan syndrome."
Horm Res 72 Suppl 2: 15-23.
 


2008

Kantarci, S., N. K. Ragge, N. S. Thomas, D. O. Robinson, K. M. Noonan, M. K. Russell, D. Donnai, F. L. Raymond, C. A. Walsh, P. K. Donahoe and B. R. Pober (2008).

"Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy." Am J Med Genet A 146A(14): 1842-7.
           
Smith, A., K. Leask, P. Tomlin and D. Donnai (2008).
"A familial dysmorphic condition with hypotonia, seizures and precocious puberty." Clin Dysmorphol 17(3): 161-4.
 
Tassabehji, M., Z. M. Fang, E. N. Hilton, J. McGaughran, Z. Zhao, C. E. de Bock, E. Howard, M. Malass,
D. Donnai, A. Diwan, F. D. Manson, D. Murrell and R. A. Clarke (2008).
"Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome." Hum Mutat 29(8): 1017-27.
 
 
McAllister, M., K. Payne, R. Macleod, S. Nicholls, D. Donnai and L. Davies (2008).
"What process attributes of clinical genetics services could maximise patient benefits?" Eur J Hum Genet 16(12): 1467-76.
 
 
Abo-Dalo, B., M. Roes, S. Canun, M. Delatycki, G. Gillessen-Kaesbach, I. Hrytsiuk, C. Jung, B. Kerr,
D. Mowat, E. Seemanova, C. E. Steiner, H. Stewart, P. Thierry, G. van Buggenhout, S. White, M. Zenker and K. Kutsche (2008).
"No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome."
Clin Dysmorphol 17(3): 181-5.
     
 
Ahlquist, T., I. Bottillo, S. A. Danielsen, G. I. Meling, T. O. Rognum, G. E. Lind, B. Dallapiccola and
R. A. Lothe (2008).
"RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A." Neoplasia 10(7): 680-6, 2 p following 686.
     
 
Antonius, T., B. van Bon, A. Eggink, I. van der Burgt, K. Noordam and A. van Heijst (2008).
"Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation." Am J Med Genet A 146A(4): 496-9.
     
 
Bahi-Buisson, N., K. Poirier, N. Boddaert, Y. Saillour, L. Castelnau, N. Philip, G. Buyse, L. Villard, S. Joriot, S. Marret, M. Bourgeois, H. Van Esch, L. Lagae, J. Amiel, L. Hertz-Pannier, A. Roubertie, F. Rivier,
J. M. Pinard, C. Beldjord and J. Chelly (2008).
"Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations." J Med Genet 45(10): 647-53.
     
 
Balikova, I., K. Martens, C. Melotte, M. Amyere, S. Van Vooren, Y. Moreau, D. Vetrie, H. Fiegler,
N. P. Carter, T. Liehr, M. Vikkula, G. Matthijs, J. P. Fryns, I. Casteels, K. Devriendt and J. R. Vermeesch (2008).
"Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16." Am J Hum Genet 82(1): 181-7.
     
 
Battaglia, A., H. E. Hoyme, B. Dallapiccola, E. Zackai, L. Hudgins, D. McDonald-McGinn, N. Bahi-Buisson, C. Romano, C. A. Williams, L. L. Brailey, S. M. Zuberi and J. C. Carey (2008).
"Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation." Pediatrics 121(2): 404-10.
     
 
Bedeschi, M. F., A. Novelli, L. Bernardini, C. Parazzini, V. Bianchi, B. Torres, F. Natacci, M. G. Giuffrida,
P. Ficarazzi, B. Dallapiccola and F. Lalatta (2008).
"Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene." Am J Med Genet A 146A(13): 1718-24.
     
Bernardini, L., C. Palka, C. Ceccarini, A. Capalbo, I. Bottillo, R. Mingarelli, A. Novelli and B. Dallapiccola (2008).
"Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes." Am J Med Genet A 146A(2): 238-44.
     
Bertolino, A., A. Di Giorgio, G. Blasi, F. Sambataro, G. Caforio, L. Sinibaldi, V. Latorre, A. Rampino,
P. Taurisano, L. Fazio, R. Romano, S. Douzgou, T. Popolizio, B. Kolachana, M. Nardini, D. R. Weinberger and B. Dallapiccola (2008).
"Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks." Biol Psychiatry 64(3): 226-34.
     
Beysen, D., S. De Jaegere, D. Amor, P. Bouchard, S. Christin-Maitre, M. Fellous, P. Touraine, A. W. Grix,
R. Hennekam, F. Meire, N. Oyen, L. C. Wilson, D. Barel, J. Clayton-Smith, T. de Ravel, C. Decock,
P. Delbeke, R. Ensenauer, F. Ebinger, G. Gillessen-Kaesbach, Y. Hendriks, V. Kimonis, R. Laframboise,
P. Laissue, K. Leppig, B. P. Leroy, D. T. Miller, D. Mowat, L. Neumann, A. Plomp, N. Van Regemorter,
D. Wieczorek, R. A. Veitia, A. De Paepe and E. De Baere (2008).
"Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome." Hum Mutat 29(11): E205-19.
     
Bossa, F., A. Latiano, L. Rossi, M. Magnani, O. Palmieri, B. Dallapiccola, S. Serafini, G. Damonte,
E. De Santo, A. Andriulli and V. Annese (2008).
"Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study." Am J Gastroenterol 103(10): 2509-16.
     
Bottillo, I., T. Ahlquist, H. Brekke, S. A. Danielsen, E. van den Berg, F. Mertens, R. A. Lothe and
B. Dallapiccola (2008).
"Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours." J Pathol. 2009 Apr;217(5):693-701.
     
Brancati, F., F. G. Garaci, R. Mingarelli and B. Dallapiccola (2008).
"Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome." Am J Med Genet A 146A(12): 1622-3.
     
Brancati, F., L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, B. Dallapiccola, J. G. Gleeson and E. M. Valente (2008).
"RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders." Clin Genet 74(2): 164-70.
     
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"A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay." Eur J Hum Genet 16(9): 1050-4.
     
Bromley, R. L., G. Mawer, J. Clayton-Smith and G. A. Baker (2008).
"Autism spectrum disorders following in utero exposure to antiepileptic drugs." Neurology 71(23): 1923-4.
     
 
Browning, B. L., V. Annese, M. L. Barclay, S. A. Bingham, S. Brand, C. Buning, M. Castro, S. Cucchiara,
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"Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts." J Med Genet 45(1): 36-42.
     
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"The Case: Hypocalcemia, chronic renal failure and dysmorphism." Kidney Int 74(11): 1495-6.
     
 
Buysse, K., A. Crepel, B. Menten, F. Pattyn, F. Antonacci, J. A. Veltman, L. A. Larsen, Z. Tumer,
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"Mapping of 5q35 chromosomal rearrangements within a genomically unstable region." J Med Genet 45(10): 672-8.
     
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M. A. Ramos-Arroyo, M. Doco-Fenzy, R. C. Hennekam, R. E. Pyeritz, O. N. Krogmann, G. Gillessen-kaesbach, E. L. Wakeling, S. Nik-zainal, C. Francannet, P. Mauran, C. Booth, M. Barrow, R. Dekens,
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"Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families." Hum Mutat 29(1): 150-8.
     
Cannon, P. S., J. Clayton-Smith, P. L. Beales and I. C. Lloyd (2008).
"Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation." Ophthalmic Genet 29(3): 128-32.
     
Carbone, A., L. Bernardini, F. Valenzano, I. Bottillo, C. De Simone, R. Capizzi, A. Capalbo, F. Romano,
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"Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF." Genes Chromosomes Cancer 47(12): 1067-75.
     
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"Ocular findings in children with a microdeletion in chromosome 22q11.2." Eur J Pediatr 167(7): 751-5.
     
Castermans, D., B. Thienpont, K. Volders, A. Crepel, J. R. Vermeesch, C. T. Schrander-Stumpel,
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"Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism." Eur J Hum Genet 16(10): 1187-92.
     
Ciccaglione, A. R., C. Marcantonio, E. Tritarelli, P. Tataseo, A. Ferraris, R. Bruni, B. Dallapiccola,
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"Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones." BMC Genomics 9: 309.
     
Collin, R. W., E. Kalay, M. Tariq, T. Peters, B. van der Zwaag, H. Venselaar, J. Oostrik, K. Lee,
Z. M. Ahmed, R. Caylan, Y. Li, H. A. Spierenburg, E. Eyupoglu, A. Heister, S. Riazuddin, E. Bahat,
M. Ansar, S. Arslan, B. Wollnik, H. G. Brunner, C. W. Cremers, A. Karaguzel, W. Ahmad, F. P. Cremers,
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"Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35." Am J Hum Genet 82(1): 125-38.
     
Czornak, K., S. Chughtai and K. H. Chrzanowska (2008).
"Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair."
J Appl Genet 49(4): 383-96.
     
Day, R., B. Beckett, D. Donnai, A. Fryer, M. Heidenblad, P. Howard, B. Kerr, S. Mansour, U. Maye,
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"A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome."
Clin Genet 74(5): 434-44.
     
de Kovel, C. G., B. Franke, F. A. Hol, J. J. Lebrec, B. Maassen, H. Brunner, G. W. Padberg, J. Platko and D. Pauls (2008).
"Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection." Am J Med Genet B Neuropsychiatr Genet 147(3): 294-300.
 
De Smedt, B., A. Swillen, K. Devriendt, J. P. Fryns, L. Verschaffel, B. Boets and P. Ghesquiere (2008). "Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome."
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Denayer, E., A. Parret, M. Chmara, S. Schubbert, A. Vogels, K. Devriendt, J. P. Frijns, V. Rybin,
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"Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation." Hum Mutat 29(2): 232-9.
     
Digilio, M. C., F. Calzolari, R. Capolino, A. Toscano, A. Sarkozy, A. de Zorzi, B. Dallapiccola and B. Marino (2008).
"Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)."
Am J Med Genet A 146A(14): 1815-9.
     
Digilio, M. C., R. Capolino and B. Dallapiccola (2008).
"Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba."
Am J Med Genet A 146A(2): 254-6.
     
Digilio, M. C., B. Marino and B. Dallapiccola (2008).
"Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome." Am J Med Genet A 146A(21): 2842-4.
     
Digilio, M. C., B. Marino and B. Dallapiccola (2008).
"Deletion 22q11 and isolated congenital heart disease." Int J Cardiol 123(3): 364-5.
     
 
Digilio, M. C., A. Sarkozy, R. Capolino, M. B. Chiarini Testa, G. Esposito, A. de Zorzi, R. Cutrera, B. Marino and B. Dallapiccola (2008).
"Costello syndrome: clinical diagnosis in the first year of life." Eur J Pediatr 167(6): 621-8.
     
 
Donnai, D., J. Clayton-Smith and M. Baraitser (2008).
"Complementation in a 45,X/47,XX,+14 patient?" Clin Dysmorphol 17(4): 291.
     
Douzgou, S., K. Lehmann, R. Mingarelli, S. Mundlos and B. Dallapiccola (2008).
"Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia." Am J Med Genet A 146A(16): 2116-21.
     
 
Du, L., D. K. Dunn-Walters, K. H. Chrzanowska, T. Stankovic, A. Kotnis, X. Li, J. Lu, G. Eggertsen,
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"A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation." PLoS ONE 3(6): e2482.
     
Ellen A. Croonen, Ineke van der Burgt Livia Kapusta Jos M. Th Draaisma, (2008).
"Electrocardiography in Noonan syndrome <I>PTPN11</I> gene mutation - phenotype characterization." American Journal of Medical Genetics Part A 146A(3): 350-353.
     
Fantes, J. A., E. Boland, J. Ramsay, D. Donnai, M. Splitt, J. A. Goodship, H. Stewart, M. Whiteford,
P. Gautier, L. Harewood, S. Holloway, F. Sharkey, E. Maher, V. van Heyningen, J. Clayton-Smith,
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"FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality." Am J Hum Genet 82(4): 916-26.
 
 
Fitzgibbon, G. J., J. Clayton-Smith, S. Banka, S. J. Hamilton, M. M. Needham, J. K. Dore, J. T. Miller,
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"Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report." J Med Case Reports 2(1): 355.
 
Friedman, J. I., T. Vrijenhoek, S. Markx, I. M. Janssen, W. A. van der Vliet, B. H. Faas, N. V. Knoers,
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"CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy." Mol Psychiatry 13(3): 261-6.
     
 
Gelmetti, V., A. Ferraris, L. Brusa, F. Romano, F. Lombardi, C. Barzaghi, P. Stanzione, B. Garavaglia,
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"Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study." Mov Disord 23(6): 881-5.
     
Giurgea, I., C. Missirian, P. Cacciagli, S. Whalen, T. Fredriksen, T. Gaillon, J. Rankin, M. Mathieu-Dramard, G. Morin, D. Martin-Coignard, C. Dubourg, B. Chabrol, J. Arfi, F. Giuliano, J. Claude Lambert, N. Philip,
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"TCF4 deletions in Pitt-Hopkins Syndrome." Hum Mutat 29(11): E242-51.
     
 
Gladkowska-Dura, M., K. Dzierzanowska-Fangrat, W. T. Dura, J. H. van Krieken, K. H. Chrzanowska,
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"Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation." J Pathol 216(3): 337-44.
     
 
Guerrini, M. M., C. Sobacchi, B. Cassani, M. Abinun, S. S. Kilic, A. Pangrazio, D. Moratto, E. Mazzolari,
J. Clayton-Smith, P. Orchard, F. P. Coxon, M. H. Helfrich, J. C. Crockett, D. Mellis, A. Vellodi, I. Tezcan,
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"Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations." Am J Hum Genet 83(1): 64-76.
     
 
Hennies, H. C., U. Kornak, H. Zhang, J. Egerer, X. Zhang, W. Seifert, J. Kuhnisch, B. Budde, M. Natebus,
F. Brancati, W. R. Wilcox, D. Muller, P. B. Kaplan, A. Rajab, G. Zampino, V. Fodale, B. Dallapiccola,
W. Newman, K. Metcalfe, J. Clayton-Smith, M. Tassabehji, B. Steinmann, F. A. Barr, P. Nurnberg,
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"Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin." Nat Genet 40(12): 1410-2.
     
 
Hoogerbrugge, N., Y. J. Kamm, P. Bult, K. M. Landsbergen, E. M. Bongers, H. G. Brunner,
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"The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited." Ann Oncol 19(4): 655-9.
     
Jezela-Stanek, A., E. Ciara, E. M. Malunowicz, L. Korniszewski, D. Piekutowska-Abramczuk, E. Popowska and M. Krajewska-Walasek (2008).
"Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature." Eur J Med Genet 51(2): 124-40.
     
Jezela-Stanek, A., A. Dobrzanska, D. Maksym-Gasiorek, W. Trzeciakowski, A. Gutkowska,
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"Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability." Am J Med Genet A 146A(1): 43-50.
     
Kerr, B., J. Allanson, M. A. Delrue, K. W. Gripp, D. Lacombe, A. E. Lin and K. A. Rauen (2008).
"The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders." Am J Med Genet A 146A(9): 1218-20.
 
Kets, C. M., J. H. van Krieken, P. E. van Erp, T. Feuth, Y. H. Jacobs, H. G. Brunner, M. J. Ligtenberg and N. Hoogerbrugge (2008).
"Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?" Int J Cancer 122(4): 796-801.
     
Koolen, D. A., A. J. Sharp, J. A. Hurst, H. V. Firth, S. J. Knight, A. Goldenberg, P. Saugier-Veber, R. Pfundt, L. E. Vissers, A. Destree, B. Grisart, L. Rooms, N. Van der Aa, M. Field, A. Hackett, K. Bell, M. J. Nowaczyk, G. M. Mancini, P. J. Poddighe, C. E. Schwartz, E. Rossi, M. De Gregori, L. L. Antonacci-Fulton,
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"Clinical and molecular delineation of the 17q21.31 microdeletion syndrome." J Med Genet 45(11): 710-20.
     
 
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"Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells." Prenat Diagn 28(11): 1004-10.
     
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"[Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study]." Ned Tijdschr Geneeskd 152(34): 1876-81.
     
Kornak, U., E. Reynders, A. Dimopoulou, J. van Reeuwijk, B. Fischer, A. Rajab, B. Budde, P. Nurnberg,
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"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2." Nat Genet 40(1): 32-4.
     
Limongelli, G., G. Pacileo, M. C. Digilio, P. Calabro, G. Di Salvo, A. Rea, T. Miele, A. Frigiola, A. Sarkozy,
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"Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management." Int J Cardiol 130(3): e108-10.
     
Limongelli, G., A. Sarkozy, G. Pacileo, P. Calabro, M. C. Digilio, V. Maddaloni, G. Gagliardi, G. Di Salvo,
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"Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome." Am J Med Genet A 146A(5): 620-8.
     
Little, J., M. Gilmour, P. A. Mossey, D. Fitzpatrick, A. Cardy, J. Clayton-Smith and A. E. Fryer (2008). "Folate and clefts of the lip and palate--a U.K.-based case-control study: Part I: Dietary and supplemental folate." Cleft Palate Craniofac J 45(4): 420-7.
     
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"Folate and clefts of the lip and palate--a U.K.-based case-control study: Part II: Biochemical and genetic analysis." Cleft Palate Craniofac J 45(4): 428-38.
     
 
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"Severe neonatal manifestations of Costello syndrome." J Med Genet 45(3): 167-71.
     
 
Maas, N. M., G. Van Buggenhout, F. Hannes, B. Thienpont, D. Sanlaville, K. Kok, A. Midro, J. Andrieux,
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"Genotype-phenotype correlations in MYCN-related Feingold syndrome." Hum Mutat 29(9): 1125-32.
     
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"Impaired Sertoli cell function in males diagnosed with Noonan syndrome." J Pediatr Endocrinol Metab 21(11): 1079-84.
     
 
Marongiu, R., A. Ferraris, T. Ialongo, S. Michiorri, F. Soleti, F. Ferrari, A. E. Elia, D. Ghezzi, A. Albanese,
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"PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum." Hum Mutat 29(4): 565.
     
 
Mascheroni, E., M. C. Digilio, E. Cortis, R. Devito, A. Sarkozy, R. Capolino, B. Dallapiccola and
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"Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation."
Am J Med Genet A 146A(22): 2966-7.
     
 
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"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes." N Engl J Med 359(16): 1685-99.
     
 
Metcalfe, K. A., D. Birenbaum-Carmeli, J. Lubinski, J. Gronwald, H. Lynch, P. Moller, P. Ghadirian,
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"International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers." Int J Cancer 122(9): 2017-22.
     
 
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"Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation." Clin Genet 73(5): 474-9.
     
 
Metcalfe, K. A., J. Lubinski, P. Ghadirian, H. Lynch, C. Kim-Sing, E. Friedman, W. D. Foulkes, S. Domchek, P. Ainsworth, C. Isaacs, N. Tung, J. Gronwald, S. Cummings, T. Wagner, S. Manoukian, P. Moller,
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"Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group." J Clin Oncol 26(7): 1093-7.
     
 
 
Morava, E., D. J. Lefeber, Z. Urban, L. de Meirleir, P. Meinecke, G. Gillessen Kaesbach, J. Sykut-Cegielska, M. Adamowicz, I. Salafsky, J. Ranells, E. Lemyre, J. van Reeuwijk, H. G. Brunner and R. A. Wevers (2008). "Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation." Eur J Hum Genet 16(1): 28-35.
     
 
Morini, E., V. Tassi, D. Capponi, O. Ludovico, B. Dallapiccola, V. Trischitta and S. Prudente (2008). "Interaction between PPARgamma2 variants and gender on the modulation of body weight." Obesity (Silver Spring) 16(6): 1467-70.
     
 
Moyes, V. J., K. A. Metcalfe and W. M. Drake (2008).
"Clinical use of cabergoline as primary and adjunctive treatment for acromegaly." Eur J Endocrinol 159(5): 541-5.
     
 
Neumann, T. E., J. Allanson, I. Kavamura, B. Kerr, G. Neri, J. Noonan, V. Cordeddu, K. Gibson,
A. Tzschach, G. Kruger, M. Hoeltzenbein, T. O. Goecke, H. G. Kehl, B. Albrecht, K. Luczak, M. M. Sasiadek, L. Musante, R. Laurie, H. Peters, M. Tartaglia, M. Zenker and V. Kalscheuer (2008).
"Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome." Eur J Hum Genet.
     
 
Newman, W. G., J. Clayton-Smith, K. Metcalfe, R. Cole, M. Tartaglia, F. Brancati, S. Morara, A. Novelli,
X. Liu, K. A. Siminovitch, S. Mundlos, M. Tassabehji and G. C. Black (2008).
"Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24." Am J Med Genet A 146A(23): 3034-7.
     
 
O'Driscoll, M., C. Peckham and B. Kerr (2008).
"Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome." Clin Dysmorphol 17(4): 255-8.
     
 
O'Driscoll, M. C. and J. Clayton-Smith (2008).
"Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?" Clin Dysmorphol 17(3): 157-9.
     
Oti, M., M. A. Huynen and H. G. Brunner (2008).
 "Phenome connections." Trends Genet 24(3): 103-6.
 
 
Oti, M., J. van Reeuwijk, M. A. Huynen and H. G. Brunner (2008).
"Conserved co-expression for candidate disease gene prioritization." BMC Bioinformatics. 2008 Apr 23;9:208.
     
 
Payne, K., S. Nicholls, M. McAllister, R. Macleod, D. Donnai and L. M. Davies (2008).
"Outcome measurement in clinical genetics services: a systematic review of validated measures." Value Health 11(3): 497-508.
     
 
Philip, N. and R. Reynaud (2008).
"[Hypocalcemia and microdeletion 22q11.2]." Arch Pediatr 15(5): 648-9.
     
Pilotto, A., L. Ferrucci, M. Franceschi, L. P. D'Ambrosio, C. Scarcelli, L. Cascavilla, F. Paris, G. Placentino, D. Seripa, B. Dallapiccola and G. Leandro (2008).
"Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients." Rejuvenation Res 11(1): 151-61.
     
Rauch, A., C. T. Thiel, D. Schindler, U. Wick, Y. J. Crow, A. B. Ekici, A. J. van Essen, T. O. Goecke,
L. Al-Gazali, K. H. Chrzanowska, C. Zweier, H. G. Brunner, K. Becker, C. J. Curry, B. Dallapiccola,
K. Devriendt, A. Dorfler, E. Kinning, A. Megarbane, P. Meinecke, R. K. Semple, S. Spranger, A. Toutain,
R. C. Trembath, E. Voss, L. Wilson, R. Hennekam, F. de Zegher, H. G. Dorr and A. Reis (2008).
"Mutations in the pericentrin (PCNT) gene cause primordial dwarfism." Science 319(5864): 816-9.
 
Rauen, K. A., E. Hefner, K. Carrillo, J. Taylor, L. Messier, Y. Aoki, K. W. Gripp, Y. Matsubara, V. K. Proud, P. Hammond, J. E. Allanson, M. A. Delrue, M. E. Axelrad, A. E. Lin, D. A. Doyle, B. Kerr, J. C. Carey,
F. McCormick, A. J. Silva, M. W. Kieran, A. Hinek, T. T. Nguyen and L. Schoyer (2008).
"Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007." Am J Med Genet A 146A(9): 1205-17.
     
 
Revencu, N., L. M. Boon, J. B. Mulliken, O. Enjolras, M. R. Cordisco, P. E. Burrows, P. Clapuyt, F. Hammer, J. Dubois, E. Baselga, F. Brancati, R. Carder, J. M. Quintal, B. Dallapiccola, G. Fischer, I. J. Frieden,
M. Garzon, J. Harper, J. Johnson-Patel, C. Labreze, L. Martorell, H. J. Paltiel, A. Pohl, J. Prendiville,
I. Quere, D. H. Siegel, E. M. Valente, A. Van Hagen, L. Van Hest, K. K. Vaux, A. Vicente, L. Weibel,
D. Chitayat and M. Vikkula (2008).
"Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations." Hum Mutat 29(7): 959-65.
     
 
Rinne, T., S. E. Clements, E. Lamme, P. H. Duijf, E. Bolat, R. Meijer, H. Scheffer, E. Rosser, T. Y. Tan,
J. A. McGrath, J. Schalkwijk, H. G. Brunner, H. Zhou and H. van Bokhoven (2008).
"A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes." Hum Mol Genet 17(13): 1968-77.
     
 
Sarkozy, A., M. C. Digilio and B. Dallapiccola (2008).
"Leopard syndrome." Orphanet J Rare Dis 3: 13.
     
 
Schulz, A. L., B. Albrecht, C. Arici, I. van der Burgt, A. Buske, G. Gillessen-Kaesbach, R. Heller, D. Horn, C. A. Hubner, G. C. Korenke, R. Konig, W. Kress, G. Kruger, P. Meinecke, J. Mucke, B. Plecko, E. Rossier, A. Schinzel, A. Schulze, E. Seemanova, H. Seidel, S. Spranger, B. Tuysuz, S. Uhrig, D. Wieczorek,
K. Kutsche and M. Zenker (2008).
"Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome." Clinical Genetics 73(1): 62-70.
     
 
Seripa, D., M. G. Matera, M. Franceschi, A. Bizzarro, F. Paris, L. Cascavilla, M. Rinaldi, F. Panza,
V. Solfrizzi, A. Daniele, C. Masullo, B. Dallapiccola and A. Pilotto (2008).
"Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease." Dement Geriatr Cogn Disord 25(3): 287-92.
     
 
Siwicki, J. K., G. Rymkiewicz, K. Blachnio, J. Rygier, P. Kuzniar, R. Ploski, A. Janusz, H. Skurzak,
K. Chrzanowska and J. Steffen (2008).
"Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells." Leuk Res 32(4): 569-77.
     
Swinnen, S., I. Bailleul-Forestier, S. Arte, P. Nieminen, K. Devriendt and C. Carels (2008).
"Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia." Orthod Craniofac Res 11(1): 24-31.
     
Thienpont, B., J. Breckpot, J. R. Vermeesch, M. Gewillig and K. Devriendt (2008).
"A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications." Eur J Med Genet 51(3): 219-25.
     
Thierfelder, N., I. Demuth, N. Burghardt, K. Schmelz, K. Sperling, K. H. Chrzanowska, E. Seemanova and M. Digweed (2008).
"Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients." Eur J Cell Biol 87(2): 111-21.
 
 
Thomas, A. C., C. Sinclair, N. Mahmud, T. Cullup, J. E. Mellerio, J. Harper, B. A. Dale, C. Turc-Carel,
D. Hohl, J. A. McGrath, A. Vahlquist, M. Hellstrom-Pigg, A. Ganemo, K. Metcalfe, C. A. Mein, E. A. O'Toole and D. P. Kelsell (2008).
"Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis." Br J Dermatol 158(3): 611-3.
     
 
Torlontano, M., C. Durante, I. Torrente, U. Crocetti, G. Augello, G. Ronga, T. Montesano, L. Travascio,
A. Verrienti, R. Bruno, S. Santini, P. D'Arcangelo, B. Dallapiccola, S. Filetti and V. Trischitta (2008).
"Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients." J Clin Endocrinol Metab 93(3): 910-3.
     
 
Valente, E. M., F. Brancati and B. Dallapiccola (2008).
"Genotypes and phenotypes of Joubert syndrome and related disorders." Eur J Med Genet 51(1): 1-23.
     
 
Valente, E. M., A. Ferraris and B. Dallapiccola (2008).
"Genetic testing for paediatric neurological disorders." Lancet Neurol 7(12): 1113-26.
     
 
van Bon, B. W., D. A. Koolen, R. Borgatti, A. Magee, S. Garcia-Minaur, L. Rooms, W. Reardon, M. Zollino, M. C. Bonaglia, M. De Gregori, F. Novara, R. Grasso, R. Ciccone, H. A. van Duyvenvoorde, A. M. Aalbers, R. Guerrini, E. Fazzi, W. M. Nillesen, S. McCullough, S. G. Kant, C. L. Marcelis, R. Pfundt, N. de Leeuw,
D. Smeets, E. A. Sistermans, J. M. Wit, B. C. Hamel, H. G. Brunner, F. Kooy, O. Zuffardi and B. B. de Vries (2008).
"Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis." J Med Genet 45(6): 346-54.
     
 
van Bon, B. W., D. A. Koolen, R. Pfundt, I. van der Burgt, N. de Leeuw and B. B. de Vries (2008). "Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review." Am J Med Genet A 146A(9): 1225-9.
     
 
van der Hout, A. H., G. G. Oudesluijs, A. Venema, J. B. Verheij, B. G. Mol, P. Rump, H. G. Brunner,
Y. J. Vos and A. J. van Essen (2008).
"Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia."
Eur J Hum Genet 16(6): 673-9.
     
Verhoeven, W., E. Wingbermuhle, J. Egger, I. Van der Burgt and S. Tuinier (2008).
"Noonan syndrome: psychological and psychiatric aspects." Am J Med Genet A 146A(2): 191-6.
     
Vrijenhoek, T., J. E. Buizer-Voskamp, I. van der Stelt, E. Strengman, C. Sabatti, A. Geurts van Kessel,
H. G. Brunner, R. A. Ophoff and J. A. Veltman (2008).
"Recurrent CNVs disrupt three candidate genes in schizophrenia patients."
Am J Hum Genet 83(4): 504-10.
 
Wilson, H. L., J. A. Crolla, D. Walker, L. Artifoni, B. Dallapiccola, T. Takano, P. Vasudevan, S. Huang,
V. Maloney, T. Yobb, O. Quarrell and H. E. McDermid (2008).
"Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development." Eur J Hum Genet 16(11): 1301-10.
     
Witsch-Baumgartner, M., I. Schwentner, M. Gruber, P. Benlian, J. Bertranpetit, E. Bieth, F. Chevy,
N. Clusellas, X. Estivill, G. Gasparini, M. Giros, R. I. Kelley, M. Krajewska-Walasek, J. Menzel, T. Miettinen, M. Ogorelkova, M. Rossi, I. Scala, A. Schinzel, K. Schmidt, D. Schonitzer, E. Seemanova, K. Sperling,
M. Syrrou, P. J. Talmud, B. Wollnik, M. Krawczak, D. Labuda and G. Utermann (2008).
"Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations."
J Med Genet 45(4): 200-9.
     
Witters, I., I. Balikova, M. Cannie, K. Devriendt, L. De Catte and J. P. Fryns (2008).
"Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21)." Genet Couns 19(4): 443-6.
     
 
Ziolkowska, L., W. Kawalec, A. Turska-Kmiec, M. Krajewska-Walasek, G. Brzezinska-Rajszys,
J. Daszkowska, B. Maruszewski and P. Burczynski (2008).
"Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery." Eur J Pediatr 167(10): 1135-40.
     
 
Zweier, C., H. Sticht, E. K. Bijlsma, J. Clayton-Smith, S. E. Boonen, A. Fryer, M. T. Greally, L. Hoffmann,
N. S. den Hollander, M. Jongmans, S. G. Kant, M. D. King, S. A. Lynch, S. McKee, A. T. Midro, S. M. Park, V. Ricotti, E. Tarantino, M. Wessels, M. Peippo and A. Rauch (2008).

"Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients." J Med Genet 45(11): 738-744.

 

2007

Jamieson, R. V., N. Farrar, K. Stewart, R. Perveen, M. Mihelec, M. Carette, J. R. Grigg, J. W. McAvoy,
F. J. Lovicu, P. P. Tam, P. Scambler, I. C. Lloyd, D. Donnai and G. C. Black (2007).
"Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation." Hum Mutat 28(10): 968-77.

McAllister, M., L. Davies, K. Payne, S. Nicholls, D. Donnai and R. MacLeod (2007).
"The emotional effects of genetic diseases: implications for clinical genetics." Am J Med Genet A 143A(22): 2651-61
 
Payne, K., S. G. Nicholls, M. McAllister, R. MacLeod, I. Ellis, D. Donnai and L. M. Davies (2007).
"Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' views." Health Policy 84(1): 112-22.
 
Jenkins, D., D. Seelow, F. S. Jehee, C. A. Perlyn, L. G. Alonso, D. F. Bueno, D. Donnai, D. Josifova,
I. M. Mathijssen, J. E. Morton, K. H. Orstavik, E. Sweeney, S. A. Wall, J. L. Marsh, P. Nurnberg,
M. R. Passos-Bueno and A. O. Wilkie
"RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity." Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18.
           
Allanson, J., I. Kavamura, G. Neri, J. Noonan, A. Poss and B. Kerr (2007).
"Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway."
Eur J Med Genet 50(6): 482-3.
           
Arts, H. H., D. Doherty, S. E. van Beersum, M. A. Parisi, S. J. Letteboer, N. T. Gorden, T. A. Peters,
T. Marker, K. Voesenek, A. Kartono, H. Ozyurek, F. M. Farin, H. Y. Kroes, U. Wolfrum, H. G. Brunner,
F. P. Cremers, I. A. Glass, N. V. Knoers and R. Roepman (2007).
"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome." Nat Genet 39(7): 882-8.
           
Balikova, I., B. Menten, T. de Ravel, C. Le Caignec, B. Thienpont, M. Urbina, M. Doco-Fenzy,
M. de Rademaeker, G. Mortier, F. Kooy, J. van den Ende, K. Devriendt, J. P. Fryns, F. Speleman and
J. R. Vermeesch (2007).
"Subtelomeric imbalances in phenotypically normal individuals." Hum Mutat 28(10): 958-67.
           
Baux, D., L. Larrieu, C. Blanchet, C. Hamel, S. Ben Salah, A. Vielle, B. Gilbert-Dussardier, M. Holder,
P. Calvas, N. Philip, P. Edery, D. Bonneau, M. Claustres, S. Malcolm and A. F. Roux (2007).
"Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients." Hum Mutat 28(8): 781-9.
           
Bernardini, L., M. Castori, A. Capalbo, V. Mokini, R. Mingarelli, P. Simi, A. Bertuccelli, A. Novelli and
B. Dallapiccola (2007).
"Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication." Am J Med Genet A 143A(24): 2937-43.
           
Boland, E., J. Clayton-Smith, V. G. Woo, S. McKee, F. D. Manson, L. Medne, E. Zackai, E. A. Swanson,
D. Fitzpatrick, K. J. Millen, E. H. Sherr, W. B. Dobyns and G. C. Black (2007).
"Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum." Am J Hum Genet 81(2): 292-303.
           
Brancati, F., G. Barrano, J. L. Silhavy, S. E. Marsh, L. Travaglini, S. L. Bielas, M. Amorini, D. Zablocka,
H. Kayserili, L. Al-Gazali, E. Bertini, E. Boltshauser, M. D'Hooghe, E. Fazzi, E. Y. Fenerci, R. C. Hennekam, A. Kiss, M. M. Lees, E. Marco, S. R. Phadke, L. Rigoli, S. Romano, C. D. Salpietro, E. H. Sherr, S. Signorini, P. Stromme, B. Stuart, L. Sztriha, D. H. Viskochil, A. Yuksel, B. Dallapiccola, E. M. Valente and
J. G. Gleeson (2007).
"CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders." Am J Hum Genet 81(1): 104-13.
           
Castori, M., C. Palka, F. Brancati, R. Mingarelli and B. Dallapiccola (2007).
"Reticulate vascular lesions and a large head." Pediatr Dermatol 24(5): 555-6.
           
Castori, M., E. Silvestri, J. Nunnari, P. Grammatico and B. Dallapiccola (2007).
"A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma." Am J Med Genet A 143A(12): 1391-3.        
 
Collin, R. W., E. Kalay, J. Oostrik, R. Caylan, B. Wollnik, S. Arslan, A. I. den Hollander, Y. Birinci,
P. Lichtner, T. M. Strom, B. Toraman, L. H. Hoefsloot, C. W. Cremers, H. G. Brunner, F. P. Cremers,
A. Karaguzel and H. Kremer (2007).
"Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment." Hum Mutat 28(7): 718-23.
           
De Cosmo, S., S. Prudente, F. Andreozzi, E. Morini, A. Rauseo, D. Scarpelli, Y. Y. Zhang, R. Xu,
F. Perticone, B. Dallapiccola, G. Sesti, A. Doria and V. Trischitta (2007).
"Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes." Am J Kidney Dis 50(4): 688-9.
           
De Luca, A., I. Bottillo, M. C. Dasdia, A. Morella, V. Lanari, L. Bernardini, L. Divona, S. Giustini, L. Sinibaldi, A. Novelli, I. Torrente, A. Schirinzi and B. Dallapiccola (2007).
"Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification."
J Med Genet 44(12): 800-8.
           
de Ravel, T. J., K. Devriendt, J. P. Fryns and J. R. Vermeesch (2007).
"What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)."
Eur J Pediatr 166(7): 637-43.
           
De Smedt, B., K. Devriendt, J. P. Fryns, A. Vogels, M. Gewillig and A. Swillen (2007).
"Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update."
J Intellect Disabil Res 51(Pt 9): 666-70.
           
Debeer, P., K. Devriendt, L. De Smet, T. Deravel, A. Gonzalez-Meneses, K. H. Grzeschik and J. P. Fryns (2007).
"The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly."
J Child Orthop 1(2): 143-50.
 
Debeer, P., V. Race, M. Gewillig, K. Devriendt and J. P. Frijns (2007).
"Novel TBX5 mutations in patients with Holt-Oram syndrome." Clin Orthop Relat Res 462: 20-6.
           
Feenstra, I., L. E. Vissers, M. Orsel, A. G. van Kessel, H. G. Brunner, J. A. Veltman and
C. M. van Ravenswaaij-Arts (2007).
"Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map." Am J Med Genet A 143A(16): 1858-67.
 
Ferwerda, B., M. B. McCall, S. Alonso, E. J. Giamarellos-Bourboulis, M. Mouktaroudi, N. Izagirre,
D. Syafruddin, G. Kibiki, T. Cristea, A. Hijmans, L. Hamann, S. Israel, G. ElGhazali, M. Troye-Blomberg,
O. Kumpf, B. Maiga, A. Dolo, O. Doumbo, C. C. Hermsen, A. F. Stalenhoef, R. van Crevel, H. G. Brunner, D. Y. Oh, R. R. Schumann, C. de la Rua, R. Sauerwein, B. J. Kullberg, A. J. van der Ven, J. W. van der Meer and M. G. Netea (2007).
"TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans." Proc Natl Acad Sci U S A 104(42): 16645-50.
           
Fiorito, M., I. Torrente, S. De Cosmo, V. Guida, A. Colosimo, S. Prudente, E. Flex, R. Menghini, R. Miccoli, G. Penno, F. Pellegrini, V. Tassi, M. Federici, V. Trischitta and B. Dallapiccola (2007).
"Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome." Obesity (Silver Spring) 15(12): 2889-95.
           
Froyen, G., H. Van Esch, M. Bauters, K. Hollanders, S. G. Frints, J. R. Vermeesch, K. Devriendt,
J. P. Fryns and P. Marynen (2007).
"Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes." Hum Mutat 28(10): 1034-42.
           
Kalay, E., A. Uzumcu, E. Krieger, R. Caylan, O. Uyguner, M. Ulubil-Emiroglu, H. Erdol, H. Kayserili,
G. Hafiz, N. Baserer, A. J. Heister, H. C. Hennies, P. Nurnberg, S. Basaran, H. G. Brunner, C. W. Cremers, A. Karaguzel, B. Wollnik and H. Kremer (2007).
"MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation." Am J Med Genet A 143A(20): 2382-9.
           
Kantarci, S., L. Al-Gazali, R. S. Hill, D. Donnai, G. C. Black, E. Bieth, N. Chassaing, D. Lacombe,
K. Devriendt, A. Teebi, M. Loscertales, C. Robson, T. Liu, D. T. MacLaughlin, K. M. Noonan, M. K. Russell, C. A. Walsh, P. K. Donahoe and B. R. Pober (2007).
"Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes." Nat Genet 39(8): 957-9.
           
Katzaki, E., C. Pescucci, V. Uliana, F. T. Papa, F. Ariani, I. Meloni, M. Priolo, A. Selicorni, D. Milani,
R. Fischetto, M. E. Celle, R. Grasso, B. Dallapiccola, F. Brancati, M. Bordignon, R. Tenconi, A. Federico,
F. Mari, A. Renieri and I. Longo (2007).
"Clinical and molecular characterization of Italian patients affected by Cohen syndrome."
J Hum Genet 52(12): 1011-7.
           
Kini, U., R. Lee, A. Jones, S. Smith, S. Ramsden, A. Fryer and J. Clayton-Smith (2007).
"Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero." Eur J Med Genet 50(6): 411-20.
           
Lehmann, K., P. Seemann, F. Silan, T. O. Goecke, S. Irgang, K. W. Kjaer, S. Kjaergaard, M. J. Mahoney,
S. Morlot, C. Reissner, B. Kerr, A. O. Wilkie and S. Mundlos (2007).
"A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN." Am J Hum Genet 81(2): 388-96.
           
Limongelli, G., G. Pacileo, B. Marino, M. C. Digilio, A. Sarkozy, P. Elliott, P. Versacci, P. Calabro,
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