Dreesen JC - Search Results

1

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: dreesen jc. 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

2

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.

van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, Rocchi M, van Oost BA. van den Ouweland AM, et al. Among authors: dreesen jc. Nat Genet. 1992 Oct;2(2):99-102. doi: 10.1038/ng1092-99. Nat Genet. 1992. PMID: 1303271

3

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

4

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.

van Oost BA, Smits AP, Dreesen JC, van den Ouweland AM, Oostra BA. van Oost BA, et al. Among authors: dreesen jc. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):320-7. doi: 10.1002/ajmg.1320430149. Am J Med Genet. 1992. PMID: 1605205

5

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

6

Two polymorphisms at the DXS539 locus.

van den Hurk JA, Dreesen JC, van den Berg H, van Bennekom CA, van den Ouweland AM, van Oost BA. van den Hurk JA, et al. Among authors: dreesen jc. Nucleic Acids Res. 1991 Apr 11;19(7):1723. doi: 10.1093/nar/19.7.1723. Nucleic Acids Res. 1991. PMID: 1674141 Free PMC article. No abstract available.

7

Risk calculations in the fragile-X syndrome.

Dreesen JC, Smits A, Brunner H. Dreesen JC, et al. Am J Med Genet. 1991 Sep 15;40(4):523-4. doi: 10.1002/ajmg.1320400432. Am J Med Genet. 1991. PMID: 1746622 No abstract available.

8

Somatic origin of inherited haemophilia A.

Bröcker-Vriends AH, Briët E, Dreesen JC, Bakker B, Reitsma P, Pannekoek H, van de Kamp JJ, Pearson PL. Bröcker-Vriends AH, et al. Among authors: dreesen jc. Hum Genet. 1990 Aug;85(3):288-92. doi: 10.1007/BF00206748. Hum Genet. 1990. PMID: 1975557

9

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. Among authors: dreesen jc. Am J Med Genet. 1991 Feb-Mar;38(2-3):328-31. doi: 10.1002/ajmg.1320380232. Am J Med Genet. 1991. PMID: 2018075

10

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

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