Hamel B - Search Results

1

High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate.

Smits A, Smeets D, Hamel B, Dreesen J, van Oost B. Smits A, et al. Among authors: hamel b. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):345-52. doi: 10.1002/ajmg.1320430153. Am J Med Genet. 1992. PMID: 1605209

2

Parental origin of the fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers.

Smits A, Smeets D, Dreesen J, Hamel B, de Haan A, van Oost B. Smits A, et al. Among authors: hamel b. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):261-7. doi: 10.1002/ajmg.1320430141. Am J Med Genet. 1992. PMID: 1605199

3

Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.

Smits A, Smeets D, Hamel B, Dreesen J, de Haan A, van Oost B. Smits A, et al. Among authors: hamel b. Am J Med Genet. 1994 Jul 15;51(4):497-500. doi: 10.1002/ajmg.1320510440. Am J Med Genet. 1994. PMID: 7943027

4

Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.

Smits AP, van Oost BA, de Haan AF, Hamel BC, Dreesen JC, Smeets DF. Smits AP, et al. Among authors: hamel bc. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):365-72. doi: 10.1002/ajmg.1320430157. Am J Med Genet. 1992. PMID: 1605214

5

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Hamel BC, Smits AP, de Graaff E, Smeets DF, Schoute F, Eussen BH, Knight SJ, Davies KE, Assman-Hulsmans CF, Oostra BA. Hamel BC, et al. Am J Hum Genet. 1994 Nov;55(5):923-31. Am J Hum Genet. 1994. PMID: 7977354 Free PMC article.

6

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B, et al. Brunner HG, et al. Among authors: hamel bc. Am J Hum Genet. 1993 Nov;53(5):1016-23. Am J Hum Genet. 1993. PMID: 8213829 Free PMC article.

7

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Hamel BC, et al. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826446 Free article.

8

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H. Yntema HG, et al. Among authors: hamel bc. J Med Genet. 1998 Oct;35(10):801-5. doi: 10.1136/jmg.35.10.801. J Med Genet. 1998. PMID: 9783701 Free PMC article.

9

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: hamel bc. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247

10

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.

van Oost BA, van Zandvoort PM, Tünte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. van Oost BA, et al. Among authors: hamel b. Hum Genet. 1991 Feb;86(4):404-7. doi: 10.1007/BF00201845. Hum Genet. 1991. PMID: 1671851

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