PubMed (OMIM) for id: 161497

Year	Number of Results
1997	1
1999	1
2001	2
2002	1
2003	1
2006	1
2007	1
2008	1
2009	2
2011	1
2012	1
2014	1
2015	1
2024	0

1

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. Vona B, et al. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.

2

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Francey LJ, et al. Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6. Am J Med Genet A. 2012. PMID: 22147502 Free PMC article.

3

Human male infertility caused by mutations in the CATSPER1 channel protein.

Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Avenarius MR, et al. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344877 Free PMC article.

4

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. Knijnenburg J, et al. J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25. J Med Genet. 2009. PMID: 19246478

5

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C. Verpy E, et al. Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8. Nature. 2008. PMID: 18849963 Free PMC article.

6

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. Zhang Y, et al. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098888 Free PMC article.

7

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. Avidan N, et al. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991. Eur J Hum Genet. 2003. PMID: 12825070

8

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Dgany O, et al. Am J Hum Genet. 2002 Dec;71(6):1467-74. doi: 10.1086/344781. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434312 Free PMC article.

9

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. Verpy E, et al. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726. Nat Genet. 2001. PMID: 11687802

10

A sperm ion channel required for sperm motility and male fertility.

Ren D, Navarro B, Perez G, Jackson AC, Hsu S, Shi Q, Tilly JL, Clapham DE. Ren D, et al. Nature. 2001 Oct 11;413(6856):603-9. doi: 10.1038/35098027. Nature. 2001. PMID: 11595941 Free PMC article.

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