Pneumothorax in two siblings : Is there a genetic basis for recurrence?HENDERSON, John; NARAYAN, Pradeep; SMITHSON, Sarah F et al.Journal of thoracic and cardiovascular surgery (Print). 2009, Vol 137, Num 4, pp 1021-1022, issn 0022-5223, 2 p.Article

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)OSTERGAARD, Pia; SIMPSON, Michael A; MURDAY, Victoria A et al.Nature genetics. 2011, Vol 43, Num 10, pp 929-931, issn 1061-4036, 3 p.Article

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type IIIDAGONEAU, Nathalie; GOULET, Marie; CAVALCANTI, Denise et al.American journal of human genetics. 2009, Vol 84, Num 5, pp 706-711, issn 0002-9297, 6 p.Article

Bohring―Opitz (Oberklaid―Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisHASTINGS, Rob; COBBEN, Jan-Maarten; MCGOWAN, Ruth et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 513-519, issn 1018-4813, 7 p.Article

Cantú Syndrome: Report of Nine New Cases and Expansion of the Clinical PhenotypeSCURR, Ingrid; WILSON, Louise; BERRY, Margaret et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 3, pp 508-518, issn 1552-4825, 11 p.Article

A genetic study of Wilson's disease in the United KingdomCOFFEY, Alison J; DURKIE, Miranda; MIELI-VERGANI, Giorgina et al.Brain. 2013, Vol 136, pp 1476-1487, issn 0006-8950, 12 p., 5Article

De Novo Mutations in MLL Cause Wiedemann-Steiner SyndromeJONES, Wendy D; DAFOU, Dimitra; DESHPANDE, Charu et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 358-364, issn 0002-9297, 7 p.Article

Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHRAINGER, Joe; BENGANI, Hemant; MERCER, Catherine et al.Human molecular genetics (Print). 2012, Vol 21, Num 18, pp 3969-3983, issn 0964-6906, 15 p.Article

Autism, language and communication in children with sex chromosome trisomiesBISHOP, Dorothy V. M; JACOBS, Patricia A; SHEARS, Deborah et al.Archives of disease in childhood. 2011, Vol 96, Num 10, pp 954-959, issn 0003-9888, 6 p.Article

Emberger Syndrome—Primary Lymphedema With Myelodysplasia: Report of Seven New CasesMANSOUR, Sahar; CONNELL, Fiona; GIBSON, Brenda et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 9, pp 2287-2296, issn 1552-4825, 10 p.Article

Mardini-Nyhan Association (Lung Agenesis, Congenital Heart, and Thumb Anomalies): Three New Cases and Possible Recurrence in a Sib-Is There a Distinct Recessive Syndrome?HASTINGS, Rob; HARDING, David; DONALDSON, Alan et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2838-2842, issn 1552-4825, 5 p.Article

Liver Enzymes Elevation and Immune Reconstitution Among Treatment-Naïve HIV-Infected Patients Instituting Antiretroviral TherapyOFOTOKUN, Ighovwerha; SMITHSON, Sarah E; CHENGXING LU et al.The American journal of the medical sciences. 2007, Vol 334, Num 5, pp 334-341, issn 0002-9629, 8 p.Article

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?DE VRIES, Bert B. A; KNIGHT, Samantha J. L; HOMFRAY, Tessa et al.Journal of medical genetics. 2001, Vol 38, Num 3, pp 175-178, issn 0022-2593Article

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal CalcificationsBARGAL, Ruth; CORMIER-DAIRE, Valerie; RAAS-ROTHSCHILDL, Annick et al.American journal of human genetics. 2009, Vol 84, Num 1, pp 80-84, issn 0002-9297, 5 p.Article

Symmetrical Enchondromatosis is Associated With Duplication of 12p11.23 to 12p11.22 Including PTHLHCOLLINSON, Morag; LEONARD, Samantha J; CHARLTON, Jocelyn et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 12, pp 3124-3128, issn 1552-4825, 5 p.Article

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome : Insight into mechanisms of DNA binding by the GATA3 transcription factorALI, Asif; CHRISTIE, Paul T; CLAYTON, Peter et al.Human molecular genetics (Print). 2007, Vol 16, Num 3, pp 265-275, issn 0964-6906, 11 p.Article

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeHOISCHEN, Alexander; VAN BON, Bregje W. M; NEWBURY-ECOB, Ruth et al.Nature genetics. 2011, Vol 43, Num 8, pp 729-731, issn 1061-4036, 3 p.Article

Mutation-Based Growth Charts for SEDC and other COL2A1 Related DysplasiasTERHAL, Paulien A; VAN DOMMELEN, Paula; HENNEKAM, Raoul C. M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 205-216, issn 1552-4868, 12 p.Article

Schimke immunoosseous dysplasia: defining skeletal featuresHUNTER, Kshamta B; LÜCKE, Thomas; CRANSBERG, Karlien et al.European journal of pediatrics. 2010, Vol 169, Num 7, pp 801-811, issn 0340-6199, 11 p.Article

Mutations in CUL4b, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorTARPEY, Patrick S; RAYMOND, F. Lucy; BARTHORPE, Syd et al.American journal of human genetics. 2007, Vol 80, Num 2, pp 345-352, issn 0002-9297, 8 p.Article

Dominant missense mutations in ABCC9 cause Cantú syndromeHARAKALOVA, Magdalena; VAN HARSSEL, Jeske J. T; SHEARS, Debbie et al.Nature genetics. 2012, Vol 44, Num 7, pp 793-796, issn 1061-4036, 4 p.Article

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsHOORNAERT, Kristien P; VEREECKE, Inge; CORMIER-DAIRE, Valerie et al.European journal of human genetics. 2010, Vol 18, Num 8, pp 872-880, issn 1018-4813, 9 p.Article