Ben-Yosef T - Search Results

1

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: ben yosef t. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.

2

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Ness SL, et al. J Med Genet. 2003 Oct;40(10):767-72. doi: 10.1136/jmg.40.10.767. J Med Genet. 2003. PMID: 14569126 Free PMC article. No abstract available.

3

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Park HJ, Cho HJ, Baek JI, Ben-Yosef T, Kwon TJ, Griffith AJ, Kim UK. Park HJ, et al. J Hum Genet. 2010 Jan;55(1):59-62. doi: 10.1038/jhg.2009.114. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911014 Free PMC article.

4

Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina.

Goldmann T, Rebibo-Sabbah A, Overlack N, Nudelman I, Belakhov V, Baasov T, Ben-Yosef T, Wolfrum U, Nagel-Wolfrum K. Goldmann T, et al. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6671-80. doi: 10.1167/iovs.10-5741. Epub 2010 Jul 29. Invest Ophthalmol Vis Sci. 2010. PMID: 20671281

5

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.

Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB. Ben-Yosef T, et al. Hum Mol Genet. 2003 Aug 15;12(16):2049-61. doi: 10.1093/hmg/ddg210. Hum Mol Genet. 2003. PMID: 12913076

6

Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations.

Nudelman I, Rebibo-Sabbah A, Shallom-Shezifi D, Hainrichson M, Stahl I, Ben-Yosef T, Baasov T. Nudelman I, et al. Bioorg Med Chem Lett. 2006 Dec 15;16(24):6310-5. doi: 10.1016/j.bmcl.2006.09.013. Epub 2006 Sep 25. Bioorg Med Chem Lett. 2006. PMID: 16997553

7

ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast.

Schuldiner O, Eden A, Ben-Yosef T, Yanuka O, Simchen G, Benvenisty N. Schuldiner O, et al. Proc Natl Acad Sci U S A. 1996 Jul 9;93(14):7143-8. doi: 10.1073/pnas.93.14.7143. Proc Natl Acad Sci U S A. 1996. PMID: 8692959 Free PMC article.

8

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Ben-Yosef T, et al. J Med Genet. 2001 Jun;38(6):396-400. doi: 10.1136/jmg.38.6.396. J Med Genet. 2001. PMID: 11424922 Free PMC article. No abstract available.

9

Recent advances in the understanding of syndromic forms of hearing loss.

Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ. Friedman TB, et al. Ear Hear. 2003 Aug;24(4):289-302. doi: 10.1097/01.AUD.0000079804.00047.CE. Ear Hear. 2003. PMID: 12923420 Review. No abstract available.

10

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben-Yosef T, Baasov T. Nudelman I, et al. J Med Chem. 2009 May 14;52(9):2836-45. doi: 10.1021/jm801640k. J Med Chem. 2009. PMID: 19309154 Free PMC article.

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