Ropers HH - Search Results

1

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Among authors: ropers hh. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

2

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Bleeker-Wagemakers LM, Friedrich U, Gal A, Wienker TF, Warburg M, Ropers HH. Bleeker-Wagemakers LM, et al. Among authors: ropers hh. Hum Genet. 1985;71(3):211-4. doi: 10.1007/BF00284575. Hum Genet. 1985. PMID: 2998969

3

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

4

Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

5

Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.

van Bokhoven H, van Genderen C, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Aug;3(8):1446. doi: 10.1093/hmg/3.8.1446. Hum Mol Genet. 1994. PMID: 7987344 No abstract available.

6

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: ropers hh. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

7

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

Berger W, van de Pol D, Bächner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH. Berger W, et al. Among authors: ropers hh. Hum Mol Genet. 1996 Jan;5(1):51-9. doi: 10.1093/hmg/5.1.51. Hum Mol Genet. 1996. PMID: 8789439 Free article.

8

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.

van der Maarel SM, Scholten IH, Huber I, Philippe C, Suijkerbuijk RF, Gilgenkrantz S, Kere J, Cremers FP, Ropers HH. van der Maarel SM, et al. Among authors: ropers hh. Hum Mol Genet. 1996 Jul;5(7):887-97. doi: 10.1093/hmg/5.7.887. Hum Mol Genet. 1996. PMID: 8817323

9

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: ropers hh. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

10

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: ropers hh. Hum Mol Genet. 1997 Jun;6(6):851-8. doi: 10.1093/hmg/6.6.851. Hum Mol Genet. 1997. PMID: 9175730 Free article.

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