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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: wittwer b. Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35. Nat Genet. 1996. PMID: 8673101
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: wittwer b. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605. Invest Ophthalmol Vis Sci. 2003. PMID: 12657579
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: wittwer b. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
Yunis-Varon syndrome: the first case of German origin.
Rabe H, Brune T, Rossi R, Steinhorst V, Jorch G, Horst J, Wittwer B. Rabe H, et al. Among authors: wittwer b. Clin Dysmorphol. 1996 Jul;5(3):217-22. Clin Dysmorphol. 1996. PMID: 8818450
Del(2q)--cause of the wrinkly skin syndrome?
Kreuz FR, Wittwer BH. Kreuz FR, et al. Among authors: wittwer bh. Clin Genet. 1993 Mar;43(3):132-8. doi: 10.1111/j.1399-0004.1993.tb04437.x. Clin Genet. 1993. PMID: 8500259 Review.
49 results