Gal A - Search Results

1

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Weil D, et al. Among authors: gal a. Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051. Hum Mol Genet. 2003. PMID: 12588794

2

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C. Zwaenepoel I, et al. Among authors: gal a. Hum Mutat. 2001;17(1):34-41. doi: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. Hum Mutat. 2001. PMID: 11139240

3

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. Verpy E, et al. Among authors: gal a. Nat Genet. 2000 Sep;26(1):51-5. doi: 10.1038/79171. Nat Genet. 2000. PMID: 10973247

4

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Chakarova CF, et al. Among authors: gal a. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924349 Free PMC article.

5

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. Among authors: gal a. 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.

6

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871. Hum Mol Genet. 1993. PMID: 8281149

7

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: gal a. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

8

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Mehdi SQ, Gal A. Veske A, et al. Among authors: gal a. Hum Mol Genet. 1996 Jan;5(1):165-8. doi: 10.1093/hmg/5.1.165. Hum Mol Genet. 1996. PMID: 8789456

9

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Among authors: gal a. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

10

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

Gal A, Xu S, Piczenik Y, Eiberg H, Duvigneau C, Schwinger E, Rosenberg T. Gal A, et al. Hum Mol Genet. 1994 Feb;3(2):323-5. doi: 10.1093/hmg/3.2.323. Hum Mol Genet. 1994. PMID: 8004102

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