Achatz H - Search Results

1

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.

Berger W, Meindl A, de Leeuw B, de Roos A, van de Pol TJ, Meitinger T, van der Velde-Visser SD, Achatz H, Geurts van Kessel A, Cremers FP, et al. Berger W, et al. Among authors: achatz h. Hum Genet. 1992 Nov;90(3):243-6. doi: 10.1007/BF00220070. Hum Genet. 1992. PMID: 1487237

2

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al. Meindl A, et al. Among authors: achatz h. Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139. Nat Genet. 1992. PMID: 1303264

3

Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region.

Schindelhauer D, Achatz H, Strom TM, Ross M, Carvalho MR, Meindl A. Schindelhauer D, et al. Among authors: achatz h. Hum Mol Genet. 1994 Jun;3(6):1027. doi: 10.1093/hmg/3.6.1027. Hum Mol Genet. 1994. PMID: 7951219 No abstract available.

4

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.

Meindl A, Carvalho MR, Herrmann K, Lorenz B, Achatz H, Lorenz B, Apfelstedt-Sylla E, Wittwer B, Ross M, Meitinger T. Meindl A, et al. Among authors: achatz h. Hum Mol Genet. 1995 Dec;4(12):2339-46. doi: 10.1093/hmg/4.12.2339. Hum Mol Genet. 1995. PMID: 8634708

5

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. Bader I, et al. Among authors: achatz h. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605. Invest Ophthalmol Vis Sci. 2003. PMID: 12657579

6

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T. Meindl A, et al. Among authors: achatz h. Hum Mol Genet. 1995 Mar;4(3):489-90. doi: 10.1093/hmg/4.3.489. Hum Mol Genet. 1995. PMID: 7795608 No abstract available.

7

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A. Meindl A, et al. Among authors: achatz h. Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35. Nat Genet. 1996. PMID: 8673101

8

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.

Brandau O, Nyakatura G, Jedele KB, Platzer M, Achatz H, Ross M, Murken J, Rosenthal A, Meindl A. Brandau O, et al. Among authors: achatz h. Eur J Hum Genet. 1998 Sep-Oct;6(5):459-66. doi: 10.1038/sj.ejhg.5200207. Eur J Hum Genet. 1998. PMID: 9801870

9

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.

Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B. Pusch CM, et al. Among authors: achatz h. Int J Mol Med. 2001 Feb;7(2):155-61. doi: 10.3892/ijmm.7.2.155. Int J Mol Med. 2001. PMID: 11172618

10

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. Pusch CM, et al. Among authors: achatz h. Nat Genet. 2000 Nov;26(3):324-7. doi: 10.1038/81627. Nat Genet. 2000. PMID: 11062472

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