Bonné-Tamir B - Search Results

1

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonné-Tamir B. Berry A, et al. Genomics. 2000 Aug 15;68(1):22-9. doi: 10.1006/geno.2000.6253. Genomics. 2000. PMID: 10950923

2

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

Michaud J, Kudoh J, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C, Shibuya K, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis SE, Scott HS. Michaud J, et al. Genomics. 2000 Aug 15;68(1):71-9. doi: 10.1006/geno.2000.6258. Genomics. 2000. PMID: 10950928

3

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.

Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima S, Shimizu N, Scott HS, Antonarakis SE. Bartoloni L, et al. Genomics. 2000 Dec 1;70(2):190-200. doi: 10.1006/geno.2000.6395. Genomics. 2000. PMID: 11112347

4

Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.

Bonné-Tamir B, Korostishevsky M, Kalinsky H, Seroussi E, Beker R, Weiss S, Godel V. Bonné-Tamir B, et al. Genomics. 1994 Mar 1;20(1):36-42. doi: 10.1006/geno.1994.1124. Genomics. 1994. PMID: 8020954

5

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.

6

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Scott HS, et al. Nat Genet. 2001 Jan;27(1):59-63. doi: 10.1038/83768. Nat Genet. 2001. PMID: 11137999

7

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.

Wattenhofer M, Shibuya K, Kudoh J, Lyle R, Michaud J, Rossier C, Kawasaki K, Asakawa S, Minoshima S, Berry A, Bonne-Tamir B, Shimizu N, Antonarakis SE, Scott HS. Wattenhofer M, et al. Hum Genet. 2001 Feb;108(2):140-7. doi: 10.1007/s004390000453. Hum Genet. 2001. PMID: 11281453

8

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B. Baldwin CT, et al. Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637. Hum Mol Genet. 1995. PMID: 8541853

9

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B. Adato A, et al. Am J Hum Genet. 1997 Oct;61(4):813-21. doi: 10.1086/514899. Am J Hum Genet. 1997. PMID: 9382091 Free PMC article.

10

Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders.

Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H, Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC. Bonné-Tamir B, et al. Am J Phys Anthropol. 1997 Oct;104(2):193-200. doi: 10.1002/(SICI)1096-8644(199710)104:2<193::AID-AJPA5>3.0.CO;2-#. Am J Phys Anthropol. 1997. PMID: 9386826

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