Ben-Yosef T - Search Results

1

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP. Ajmal M, et al. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15. J Med Genet. 2014. PMID: 24737827

2

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Benayoun L, et al. Mol Genet Metab. 2007 Apr;90(4):453-7. doi: 10.1016/j.ymgme.2006.12.010. Epub 2007 Feb 1. Mol Genet Metab. 2007. PMID: 17275380

3

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.

Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. Auslender N, et al. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8. doi: 10.1167/iovs.07-0736. Invest Ophthalmol Vis Sci. 2007. PMID: 18055789

4

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Abbasi AH, Garzozi HJ, Ben-Yosef T. Abbasi AH, et al. Mol Vis. 2008 Apr 21;14:675-82. Mol Vis. 2008. PMID: 18432314 Free PMC article.

5

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T. Benayoun L, et al. Am J Med Genet A. 2009 Feb 15;149A(4):650-6. doi: 10.1002/ajmg.a.32634. Am J Med Genet A. 2009. PMID: 19140180

6

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Bandah-Rozenfeld D, et al. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7. Invest Ophthalmol Vis Sci. 2010. PMID: 20375346 Free article.

7

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T. Collin RW, et al. Am J Hum Genet. 2010 May 14;86(5):783-8. doi: 10.1016/j.ajhg.2010.03.016. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398884 Free PMC article.

8

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T. Nevet MJ, et al. J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507925

9

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Dvir L, et al. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655036 Free PMC article.

10

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D. Bandah-Rozenfeld D, et al. Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705279 Free PMC article.

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