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Items: 1 to 20 of 110

1.

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ.

J Med Genet. 2007 Apr;44(4):233-40. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added].

2.

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ.

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0645. doi: 10.1136/bcr.08.2008.0645.

3.

CATSPER2, a human autosomal nonsyndromic male infertility gene.

Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS.

Eur J Hum Genet. 2003 Jul;11(7):497-502.

4.

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B.

Nat Genet. 2000 Sep;26(1):56-60.

PMID:
10973248
5.

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C.

Nat Genet. 2001 Nov;29(3):345-9.

PMID:
11687802
6.

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.

Jaiswal D, Singh V, Dwivedi US, Trivedi S, Singh K.

Gene. 2014 Jun 1;542(2):263-5. doi: 10.1016/j.gene.2014.03.055.

PMID:
24690399
7.

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D.

Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19.

8.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T.

Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332.

9.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
10.

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S.

Hum Genet. 2007 Feb;120(6):789-93.

PMID:
17066295
11.

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.

Nat Genet. 1996 Apr;12(4):421-3.

PMID:
8630497
12.

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.

J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685.

PMID:
19246478
13.

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.

PMID:
18022253
14.

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F.

Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004.

PMID:
24768815
15.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.

N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

16.

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M.

Hum Mutat. 2001 Aug;18(2):101-8.

PMID:
11462234
17.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER.

Am J Hum Genet. 2002 Sep;71(3):632-6.

18.

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C.

Eur J Hum Genet. 2002 Mar;10(3):210-2.

19.

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C.

Am J Hum Genet. 2000 Sep;67(3):591-600.

20.

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G.

Am J Hum Genet. 1999 Jun;64(6):1604-16.

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