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Homozygosity for a FBN1 missense mutation : clinical and molecular evidence for recessive Marfan syndromeDE VRIES, Bert B. A; PALS, Gerard; ODINK, Roelof et al.European journal of human genetics. 2007, Vol 15, Num 9, pp 930-935, issn 1018-4813, 6 p.Article

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of ASHITCHINS, Megan P; RICKARD, Sarah; DHALLA, Fatima et al.American journal of medical genetics. 2004, Vol 125A, Num 2, pp 167-172, issn 0148-7299, 6 p.Article

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23DE VRIES, Bert B. A; BREEDVELD, Guido J; DEELEN, Wouter H et al.American journal of medical genetics. 2002, Vol 111, Num 4, pp 443-445, issn 0148-7299Article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeKOOLEN, David A; KRAMER, Jamie M; SAU WAI CHEUNG et al.Nature genetics. 2012, Vol 44, Num 6, pp 639-641, issn 1061-4036, 3 p.Article

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability SyndromeSCHUURS-HOEIJMAKERS, Janneke H. M; OH, Edwin C; BOKHOVEN, Hans Van et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1122-1127, issn 0002-9297, 6 p.Article

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesBRUNO, Damien L; ANDERLID, Britt-Marie; KOOY, R. Frank et al.Journal of medical genetics. 2010, Vol 47, Num 5, pp 299-311, issn 0022-2593, 13 p.Article

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 geneWILLEMSEN, Michel A. A. P; BREEDVELD, Guido J; WOUDA, Siep et al.European journal of pediatrics. 2005, Vol 164, Num 1, pp 28-30, issn 0340-6199, 3 p.Article

Mutations in TITF-1 are associated with benign hereditary choreaBREEDVELD, Guido J; VAN DONGEN, Jeroen W. F; GRÜTERS, Annette et al.Human molecular genetics (Print). 2002, Vol 11, Num 8, pp 971-979, issn 0964-6906Article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismKOOLEN, David A; VISSERS, Lisenka E. L. M; SCHINZEL, Albert et al.Nature genetics. 2006, Vol 38, Num 9, pp 999-1001, issn 1061-4036, 3 p.Article

3q29 microdeletion syndrome : Clinical and molecular characterization of a new syndromeWILLATT, Lionel; COX, James; PINDAR, Lesley et al.American journal of human genetics. 2005, Vol 77, Num 1, pp 154-160, issn 0002-9297, 7 p.Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndromeVISSERS, Lisenka E. L. M; VAN RAVENSWAAIJ, Conny M. A; SCHOENMAKERS, Eric F. P. M et al.Nature genetics. 2004, Vol 36, Num 9, pp 955-957, issn 1061-4036, 3 p.Article

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspringGALJAARD, Robert-Jan H; VAN DER LINDE, Herma C; EUSSEN, Bert H. J et al.American journal of medical genetics. 2003, Vol 121A, Num 2, pp 168-173, issn 0148-7299, 6 p.Article

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLOWER, Karen M; TURNER, Gillian; LAMPE, Anne K et al.Nature genetics. 2002, Vol 32, Num 4, pp 661-665, issn 1061-4036, 5 p.Article

Cantú Syndrome Is Caused by Mutations in ABCC9VAN BON, Bregje W. M; GILISSEN, Christian; ISIDOR, Bertrand et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 1094-1101, issn 0002-9297, 8 p.Article

Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and SeizuresTHIERRY, Gaelle; BENETEAU, Claire; CAILLEY, Dorothee et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1633-1640, issn 1552-4825, 8 p.Article

A de novo paradigm for mental retardationVISSERS, Lisenka E.l M; DE LIGT, Joep; VAN BON, Bregje W. M et al.Nature genetics. 2010, Vol 42, Num 12, pp 1109-1112, issn 1061-4036, 4 p.Article

Autosomal Dominant Inheritance of Cardiac Valves Anomalies in Two Families : Extended Spectrum of Left-Ventricular Outflow Tract ObstructionWESSELS, Marja W; VAN DE LAAR, Ingrid M. B. H; WILLEMS, Patrick J et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 2, pp 216-225, issn 1552-4825, 10 p.Article

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defectsWILLEMSEN, Marjolein H; DE LEEUW, Nicole; PFUNDT, Rolph et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 134-139, issn 1769-7212, 6 p.Article

Loss-of-function mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeKLEEFSTRA, Tjitske; BRUNNER, Han G; HAMEL, Ben C. J et al.American journal of human genetics. 2006, Vol 79, Num 2, pp 370-377, issn 0002-9297, 8 p.Article

ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationLUGTENBERG, Dorien; YNTEMA, Helger G; CHELLY, Jamel et al.American journal of human genetics. 2006, Vol 78, Num 2, pp 265-278, issn 0002-9297, 14 p.Article

Diagnostic genome profiling in mental retardationDE VRIES, Bert B. A; PFUNDT, Rolph; SMEETS, Dominique et al.American journal of human genetics. 2005, Vol 77, Num 4, pp 606-616, issn 0002-9297, 11 p.Article

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationKOOLEN, David A; REARDON, William; VELTMAN, Joris A et al.European journal of human genetics. 2005, Vol 13, Num 9, pp 1019-1024, issn 1018-4813, 6 p.Article

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnosticsKLEEFSTRA, Tjitske; YNTEMA, Helger G; NILLESEN, Willy M et al.European journal of human genetics. 2004, Vol 12, Num 1, pp 24-28, issn 1018-4813, 5 p.Article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeRIVIERE, Jean-Baptiste; VAN BON, Bregje W. M; ATKIN, Joan F et al.Nature genetics. 2012, Vol 44, Num 4, pp 440-444, issn 1061-4036, 5 p.Article