Leal SM - Search Results

1

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Lee K, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM. Lee K, et al. Among authors: leal sm. Am J Med Genet A. 2012 Feb;158A(2):315-21. doi: 10.1002/ajmg.a.34407. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246673 Free PMC article.

2

A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E. Leal SM, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):341-4. doi: 10.1038/sj.ejhg.5200201. Eur J Hum Genet. 1998. PMID: 9781041 Free PMC article.

3

A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.

Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. Salam AA, et al. Among authors: leal sm. Am J Hum Genet. 2000 Jun;66(6):1984-8. doi: 10.1086/302931. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777717 Free PMC article.

4

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. Among authors: leal sm. 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.

5

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.

Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. Das P, et al. Among authors: leal sm. Am J Med Genet A. 2003 Apr 1;118A(1):35-42. doi: 10.1002/ajmg.a.10011. Am J Med Genet A. 2003. PMID: 12605438 Free PMC article.

6

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.

Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM. Ansar M, et al. Among authors: leal sm. Hum Hered. 2003;55(1):71-4. doi: 10.1159/000071813. Hum Hered. 2003. PMID: 12890929 Free PMC article.

7

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W. Rafique MA, et al. Among authors: leal sm. Eur J Hum Genet. 2003 Aug;11(8):623-8. doi: 10.1038/sj.ejhg.5201005. Eur J Hum Genet. 2003. PMID: 12891384 Free PMC article.

8

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. Zhu M, et al. Among authors: leal sm. Am J Hum Genet. 2003 Nov;73(5):1082-91. doi: 10.1086/379286. Epub 2003 Sep 16. Am J Hum Genet. 2003. PMID: 13680526 Free PMC article.

9

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

Wajid M, Abbasi AA, Ansar M, Pham TL, Yan K, Haque S, Ahmad W, Leal SM. Wajid M, et al. Among authors: leal sm. Eur J Hum Genet. 2003 Oct;11(10):812-5. doi: 10.1038/sj.ejhg.5201041. Eur J Hum Genet. 2003. PMID: 14512973 Free PMC article.

10

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.

Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W. Rafiq MA, et al. Among authors: leal sm. J Invest Dermatol. 2004 Jul;123(1):247-8. doi: 10.1111/j.0022-202X.2004.22715.x. J Invest Dermatol. 2004. PMID: 15191570 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

408 results

Search Page

Filters