P63 gene mutations and human developmental syndromesBRUNNER, Han G; HAMEL, Ben C. J; VAN BOKHOVEN, Hans et al.American journal of medical genetics. 2002, Vol 112, Num 3, pp 284-290, issn 0148-7299, 7 p.Conference Paper

Feingold syndrome: Clinical review and genetic mappingCELLI, Jacopo; VAN BOKHOVEN, Hans; BRUNNER, Han G et al.American journal of medical genetics. 2003, Vol 122A, Num 4, pp 294-300, issn 0148-7299, 7 p.Conference Paper

Split-hand/split-foot malformation with paternal mutation in the p63 geneWITTERS, Ingrid; VAN BOKHOVEN, Hans; GOOSSENS, A et al.Prenatal diagnosis. 2001, Vol 21, Num 13, pp 1119-1122, issn 0197-3851Article

Spectrum of p63 Mutations in a Selected Patient Cohort Affected With Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (AEC)RINNE, Tuula; BOLAT, Emine; MEIJER, Rowdy et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 9, pp 1948-1951, issn 1552-4825, 4 p.Article

A Novel Xp22.11 Deletion Causing a Syndrome of Craniosynostosis and Periventricular Nodular HeterotopiaVAN KOGELENBERG, Margriet; LERONE, Margherita; DE TONI, Teresa et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3144-3147, issn 1552-4825, 4 p.Article

Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental RetardationLUGTENBERG, Dorien; ZANGRANDE-VIEIRA, Luiz; ULLMANN, Reinhard et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 638-645, issn 1552-4825, 8 p.Article

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6VOA2KORNAK, Uwe; REYNDERS, Ellen; URBAN, Zsolt et al.KORNAK, Uwe; Nature genetics. 2008, Vol 40, Num 1, pp 32-34, issn 1061-4036, 3 p.Article

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionPRINTS, Suzanna Gerarda Maria; LENZNER, Steffen; TZSCHACH, Andreas et al.European journal of human genetics. 2008, Vol 16, Num 9, pp 1029-1037, issn 1018-4813, 9 p.Article

Mutations in different components of FGF signaling in LADD syndromeROHMANN, Edyta; BRUNNER, Han G; LEROY, Jules G et al.Nature genetics. 2006, Vol 38, Num 4, pp 414-417, issn 1061-4036, 4 p.Article

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patientsVAN DER ZWAAG, Bert; VERZIJL, Harriette T. F. M; WICHERS, Karin H et al.Pediatric neurology. 2004, Vol 31, Num 2, pp 114-118, issn 0887-8994, 5 p.Article

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 geneFRINTS, Suzanna G. M; LIN JUN; VAN BOKHOVEN, Hans et al.American journal of medical genetics. 2003, Vol 119A, Num 3, pp 367-374, issn 0148-7299, 8 p.Article

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationKUTSCHE, Kerstin; YNTEMA, Helger; MORAINE, Claude et al.Nature genetics. 2000, Vol 26, Num 2, pp 247-250, issn 1061-4036Article

Dominant isolated renal magnesium loss is caused by misrouting of the Na⁺, K⁺-atpase γ-subunitMEIJ, Ivan C; KOENDERINK, Jan B; VAN BOKHOVEN, Hans et al.Nature genetics. 2000, Vol 26, Num 3, pp 265-266, issn 1061-4036Article

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q 14.1-q 14.2DAVID, Dezsö; MARQUES, Barbara; FERREIRA, Cristina et al.European journal of human genetics. 2009, Vol 17, Num 8, pp 1024-1033, issn 1018-4813, 10 p.Article

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasiaBONGERS, Ernie M. H. F; VAN BOKHOVEN, Hans; KNOERS, Nine V. A. M et al.American journal of medical genetics. 2002, Vol 108, Num 1, pp 78-79, issn 0148-7299Article

Homozygosity mapping in outbred families with mental retardationSCHUURS-HOEIJMAKERS, Janneke Hm; HEHIR-KWA, Jayne Y; VAN BOKHOVEN, Hans et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 597-601, issn 1018-4813, 5 p.Article

Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man With Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad ThoraxLUGTENBERG, Dorien; DE BROUWER, Arjan P. M; OUDAKKER, Astrid R et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 4, pp 760-766, issn 1552-4825, 7 p.Article

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHKOUSOULIDOU, Ludmila; PARKEL, Sven; VAN ESCH, Hilde et al.European journal of medical genetics. 2007, Vol 50, Num 6, pp 399-410, issn 1769-7212, 12 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

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

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBIENVENU, Thierry; POIRIER, Karine; COUVERT, Philippe et al.Human molecular genetics (Print). 2002, Vol 11, Num 8, pp 981-991, issn 0964-6906Article

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63DUIJF, Pascal H. G; VANMOLKOT, Kaate R. J; PROPPING, Peter et al.Human molecular genetics (Print). 2002, Vol 11, Num 7, pp 799-804, issn 0964-6906Article

Expanding phenotype of XNP mutations: Mild to moderate mental retardationYNTEMA, Helger G; POPPELAARS, Francis A; DERKSEN, Esther et al.American journal of medical genetics. 2002, Vol 110, Num 3, pp 243-247, issn 0148-7299Article

Meier-Gorlin syndrome: Report of eight additional cases and reviewBONGERS, Ernie M. H. F; OPITZ, John M; HAMEL, Ben C. J et al.American journal of medical genetics. 2001, Vol 102, Num 2, pp 115-124, issn 0148-7299Article