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Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.
Fuchs S, Kellner U, Wedemann H, Gal A. Fuchs S, et al. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: fuchs s. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. Kohlhase J, et al. Among authors: fuchs s. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215. Hum Mutat. 2005. PMID: 16086360
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
Fuchs S, Kranich H, Denton MJ, Zrenner E, Bhattacharya SS, Humphries P, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Jul;3(7):1203. doi: 10.1093/hmg/3.7.1203. Hum Mol Genet. 1994. PMID: 7981701 No abstract available.
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
Fuchs S, Xu SY, Caballero M, Salcedo M, La O A, Wedemann H, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655. Hum Mol Genet. 1994. PMID: 8069314 No abstract available.
Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
Kellner U, Fuchs S, Bornfeld N, Foerster MH, Gal A. Kellner U, et al. Among authors: fuchs s. Ophthalmic Genet. 1996 Jun;17(2):67-74. doi: 10.3109/13816819609057873. Ophthalmic Genet. 1996. PMID: 8832723
His mother's left eye was amaurotic and phthitic. Her right eye showed severe retinal dragging, visual acuity was reduced to 20/60. ...
His mother's left eye was amaurotic and phthitic. Her right eye showed severe retinal dragging, visual acuity was reduced to 20/60. . …
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
Fuchs S, van de Pol D, Beudt U, Kellner U, Meire F, Berger W, Gal A. Fuchs S, et al. Hum Mutat. 1996;8(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8807344 No abstract available.
Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
Meins M, Grüning G, Blankenagel A, Krastel H, Reck B, Fuchs S, Schwinger E, Gal A. Meins M, et al. Among authors: fuchs s. Hum Mol Genet. 1993 Dec;2(12):2181-2. doi: 10.1093/hmg/2.12.2181. Hum Mol Genet. 1993. PMID: 8111389 No abstract available.
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. Fuchs S, et al. Nat Genet. 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360. Nat Genet. 1995. PMID: 7670478
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903. Hum Mol Genet. 1994. PMID: 7849723 No abstract available.
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