DC03594/DC/NIDCD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1999	1
2000	4
2001	3
2002	2
2003	7
2004	1
2005	6
2006	6
2007	2
2008	7
2009	4
2010	4
2011	6
2012	4
2013	1
2024	0

1

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Basit S, Lee K, Habib R, Chen L, Umm-e-Kalsoom, Santos-Cortez RL, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM. Basit S, et al. Hum Genet. 2011 Apr;129(4):379-85. doi: 10.1007/s00439-010-0934-0. Epub 2010 Dec 22. Hum Genet. 2011. PMID: 21181198 Free PMC article.

2

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H. Schraders M, et al. Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137778 Free PMC article.

3

Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium.

Leal SM. Leal SM. Genet Epidemiol. 2005 Nov;29(3):204-14. doi: 10.1002/gepi.20086. Genet Epidemiol. 2005. PMID: 16080207 Free PMC article.

4

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

DeWan AT, Parrado AR, Leal SM. DeWan AT, et al. Clin Genet. 2003 Jan;63(1):39-45. doi: 10.1034/j.1399-0004.2003.630106.x. Clin Genet. 2003. PMID: 12519370 Free PMC article.

5

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.

6

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE Jr, Wambangco MA, Ahmad W, Leal SM. Santos RL, et al. Hum Genet. 2006 Aug;120(1):85-92. doi: 10.1007/s00439-006-0188-z. Epub 2006 May 16. Hum Genet. 2006. PMID: 16703383 Free PMC article.

7

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM. Santos RL, et al. Audiol Neurootol. 2006;11(5):269-75. doi: 10.1159/000093525. Epub 2006 May 23. Audiol Neurootol. 2006. PMID: 16717440 Free PMC article.

8

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.

Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM. Ansar M, et al. Eur J Hum Genet. 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905. Eur J Hum Genet. 2003. PMID: 12529709 Free PMC article.

9

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. Ansar M, et al. J Hum Genet. 2011 Dec;56(12):866-8. doi: 10.1038/jhg.2011.110. Epub 2011 Sep 22. J Hum Genet. 2011. PMID: 21937999 Free PMC article.

10

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

Wang QJ, Li QZ, Rao SQ, Lee K, Huang XS, Yang WY, Zhai SQ, Guo WW, Guo YF, Yu N, Zhao YL, Yuan H, Guan J, Leal SM, Han DY, Shen Y. Wang QJ, et al. J Med Genet. 2006 Jul;43(7):e33. doi: 10.1136/jmg.2005.037929. J Med Genet. 2006. PMID: 16816020 Free PMC article.

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