Smits AP - Search Results

1

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: smits ap. 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

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. 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

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. 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

4

Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.

van Oost BA, Smits A, Dreesen JC, Smeets D, Perdon L, van Bennekom CA, Dahl N, Bakker E, Oostra BA. van Oost BA, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):328-31. doi: 10.1002/ajmg.1320380232. Am J Med Genet. 1991. PMID: 2018075

5

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. Am J Med Genet. 1994 Jul 15;51(4):497-500. doi: 10.1002/ajmg.1320510440. Am J Med Genet. 1994. PMID: 7943027

6

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A. Smeets D, et al. J Med Genet. 1997 Jan;34(1):18-23. doi: 10.1136/jmg.34.1.18. J Med Genet. 1997. PMID: 9032644 Free PMC article.

7

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.

8

Penetrance estimate of the fra(X) gene using Pointer versus direct estimate.

de Haan AF, Smits AP, Smeets DF, van Oost BA. de Haan AF, et al. Among authors: smits ap. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):361-4. doi: 10.1002/ajmg.1320430156. Am J Med Genet. 1992. PMID: 1605213

9

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. 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

10

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. Among authors: smits ap. Am J Hum Genet. 1994 Nov;55(5):923-31. Am J Hum Genet. 1994. PMID: 7977354 Free PMC article.

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