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Results: 1 to 20 of 148

1.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.

Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89.

PMID:
21917145
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G.

Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20.

PMID:
24657061
[PubMed - indexed for MEDLINE]
3.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK.

BMC Med Genet. 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46.

PMID:
24767429
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.

Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172.

PMID:
24164807
[PubMed - indexed for MEDLINE]
Free Article
5.

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

Miyagawa M, Nishio SY, Usami S.

PLoS One. 2012;7(8):e40366. doi: 10.1371/journal.pone.0040366. Epub 2012 Aug 10.

PMID:
22899989
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G.

Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9.

PMID:
18616530
[PubMed - indexed for MEDLINE]
7.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4.

PMID:
19888295
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.

PMID:
23770805
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M.

PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30.

PMID:
23226338
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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]
11.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB.

Eur J Hum Genet. 2014 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9.

PMID:
24105371
[PubMed - in process]
12.

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Daniels R, Shelton C, Lalwani AK.

J Mol Med (Berl). 2005 Jul;83(7):553-60. Epub 2005 May 24.

PMID:
15912360
[PubMed - indexed for MEDLINE]
13.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M.

Hum Genomics. 2006 Jan;2(4):203-11.

PMID:
16460646
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

PMID:
21078986
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.

PLoS One. 2014 Jan 8;9(1):e84773. doi: 10.1371/journal.pone.0084773. eCollection 2014.

PMID:
24416283
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.

Bai H, Yang X, Temuribagen, Guilan, Suyalatu, Narisu, Wu H, Chen Y, Liu Y, Wu Q.

BMC Med Genet. 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34.

PMID:
25008054
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G.

Int J Pediatr Otorhinolaryngol. 2008 Feb;72(2):249-55. Epub 2007 Nov 19.

PMID:
18022253
[PubMed - indexed for MEDLINE]
18.

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY, Lee SH.

Orphanet J Rare Dis. 2012 Sep 3;7:60. doi: 10.1186/1750-1172-7-60.

PMID:
22938506
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.

Bashir R, Fatima A, Naz S.

Eur J Med Genet. 2012 Feb;55(2):99-102. doi: 10.1016/j.ejmg.2011.12.003. Epub 2011 Dec 30.

PMID:
22245518
[PubMed - indexed for MEDLINE]
Free PMC Article

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