Ropers HH - Search Results

1

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. Bitner-Glindzicz M, et al. Among authors: ropers hh. Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467. Hum Mol Genet. 1995. PMID: 7581392 Free article. No abstract available.

2

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: ropers hh. Science. 1995 Feb 3;267(5198):685-8. doi: 10.1126/science.7839145. Science. 1995. PMID: 7839145 Free article.

3

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Bitner-Glindzicz M, et al. Among authors: ropers hh. J Med Genet. 1994 Dec;31(12):916-21. doi: 10.1136/jmg.31.12.916. J Med Genet. 1994. PMID: 7891371 Free PMC article.

4

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: ropers hh. Hum Mol Genet. 1995 Nov;4(11):2145-50. doi: 10.1093/hmg/4.11.2145. Hum Mol Genet. 1995. PMID: 8589693

5

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: ropers hh. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

6

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

de Kok YJ, Cremers CW, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: ropers hh. Hum Mutat. 1997;10(3):207-11. doi: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F. Hum Mutat. 1997. PMID: 9298820 Free article.

7

Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP. Bach I, et al. Among authors: ropers hh. Hum Genet. 1992 Aug;89(6):620-4. doi: 10.1007/BF00221950. Hum Genet. 1992. PMID: 1511979

8

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Cremers FP, van de Pol TJ, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HH. Cremers FP, et al. Among authors: ropers hh. Am J Hum Genet. 1988 Oct;43(4):452-61. Am J Hum Genet. 1988. PMID: 3177387 Free PMC article.

9

Mapping and cloning hereditary deafness genes.

Cremers FP, Bitner-Glindzicz M, Pembrey ME, Ropers HH. Cremers FP, et al. Among authors: ropers hh. Curr Opin Genet Dev. 1995 Jun;5(3):371-5. doi: 10.1016/0959-437x(95)80053-0. Curr Opin Genet Dev. 1995. PMID: 7549433 Free article. Review.

10

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Among authors: ropers hh. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

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