Hamel BC - Search Results

1

Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Willemsen MH, Rensen JH, van Schrojenstein-Lantman de Valk HM, Hamel BC, Kleefstra T. Willemsen MH, et al. Among authors: hamel bc. Mol Syndromol. 2012 Apr;2(3-5):217-234. doi: 10.1159/000335661. Epub 2012 Jan 13. Mol Syndromol. 2012. PMID: 22670143 Free PMC article.

2

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

Kleefstra T, Hamel BC. Kleefstra T, et al. Among authors: hamel bc. Clin Genet. 2005 Jun;67(6):451-67. doi: 10.1111/j.1399-0004.2005.00434.x. Clin Genet. 2005. PMID: 15857409 Review.

3

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.

Willemsen MH, de Leeuw N, Mercer C, Eisenhauer H, Morris J, Collinson MN, Barber JC, Lam ST, Lo IF, Rensen H, Ferwerda A, Hamel BC, Kleefstra T. Willemsen MH, et al. Among authors: hamel bc. Am J Med Genet A. 2011 Jan;155A(1):106-12. doi: 10.1002/ajmg.a.33715. Epub 2010 Dec 15. Am J Med Genet A. 2011. PMID: 21204216

4

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.

Willemsen MH, Vallès A, Kirkels LA, Mastebroek M, Olde Loohuis N, Kos A, Wissink-Lindhout WM, de Brouwer AP, Nillesen WM, Pfundt R, Holder-Espinasse M, Vallée L, Andrieux J, Coppens-Hofman MC, Rensen H, Hamel BC, van Bokhoven H, Aschrafi A, Kleefstra T. Willemsen MH, et al. Among authors: hamel bc. J Med Genet. 2011 Dec;48(12):810-8. doi: 10.1136/jmedgenet-2011-100294. Epub 2011 Oct 15. J Med Genet. 2011. PMID: 22003227

5

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T. Willemsen MH, et al. Among authors: hamel bc. J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542. J Med Genet. 2012. PMID: 22368300

6

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: hamel bc. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

7

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC. Kleefstra T, et al. Among authors: hamel bc. Eur J Hum Genet. 2004 Jan;12(1):24-8. doi: 10.1038/sj.ejhg.5201080. Eur J Hum Genet. 2004. PMID: 14560307

8

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: hamel bc. Clin Genet. 2004 Oct;66(4):318-26. doi: 10.1111/j.1399-0004.2004.00308.x. Clin Genet. 2004. PMID: 15355434

9

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: hamel bc. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 Free PMC article.

10

Mutations in MED12 cause X-linked Ohdo syndrome.

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: hamel bc. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.

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