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Results: 1 to 20 of 115

1.

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB.

Pediatr Res. 2004 Jun;55(6):995-1000. Epub 2004 Mar 17.

PMID:
15028842
[PubMed - indexed for MEDLINE]
2.

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB.

N Engl J Med. 2003 Apr 24;348(17):1664-70. No abstract available.

PMID:
12711741
[PubMed - indexed for MEDLINE]
Free Article
3.

Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.

Haywood-Watson RJ 2nd, Ahmed ZM, Kjellstrom S, Bush RA, Takada Y, Hampton LL, Battey JF, Sieving PA, Friedman TB.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3074-84.

PMID:
16799054
[PubMed - indexed for MEDLINE]
Free Article
4.

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O.

Am J Med Genet A. 2011 May;155A(5):1170-2. doi: 10.1002/ajmg.a.33972. Epub 2011 Apr 4.

PMID:
21465660
[PubMed - indexed for MEDLINE]
5.

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.

PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.

PMID:
23251578
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.

Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB.

N Engl J Med. 1998 Nov 19;339(21):1500-5.

PMID:
9819448
[PubMed - indexed for MEDLINE]
Free Article
7.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.

J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.

PMID:
21940737
[PubMed - indexed for MEDLINE]
8.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668644
[PubMed - indexed for MEDLINE]
9.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

PMID:
12075507
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL.

Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Erratum in: Eur J Hum Genet. 2009 Oct;17(10):1363. Shotland, Larry [corrected to Shotland, Lawrence I]; Li, X C [corrected to Li, Xiaoyan Cindy].

PMID:
19107147
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB.

Hum Genet. 2008 Oct;124(3):215-23. doi: 10.1007/s00439-008-0543-3. Epub 2008 Aug 22.

PMID:
18719945
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Cohn ES, Kelley PM.

Am J Med Genet. 1999 Sep 24;89(3):130-6. Review.

PMID:
10704187
[PubMed - indexed for MEDLINE]
13.

Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.

Fakin A, Zupan A, Glava─Ź D, Hawlina M.

Vision Res. 2012 Dec 15;75:71-6. doi: 10.1016/j.visres.2012.07.011. Epub 2012 Jul 25.

PMID:
22842402
[PubMed - indexed for MEDLINE]
Free Article
14.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45. Epub 2007 Jun 5.

PMID:
17553572
[PubMed - indexed for MEDLINE]
15.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA.

Am J Hum Genet. 2002 Dec;71(6):1395-412. Epub 2002 Nov 26.

PMID:
12454801
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D.

Am J Med Genet. 2000 Nov 6;95(1):53-6.

PMID:
11074495
[PubMed - indexed for MEDLINE]
17.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D.

Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi: 10.1016/j.ajhg.2011.01.002. Epub 2011 Feb 3.

PMID:
21295282
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.

Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T.

Hum Genet. 2007 Nov;122(3-4):373-81. Epub 2007 Jul 25.

PMID:
17653769
[PubMed - indexed for MEDLINE]
19.

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.

Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.

Mol Vis. 2013 Jul 20;19:1565-71. Print 2013.

PMID:
23882135
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M.

Hum Genet. 2002 Mar;110(3):284-9. Epub 2002 Feb 8.

PMID:
11935342
[PubMed - indexed for MEDLINE]

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