Leal SM - Search Results

1

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: leal sm. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.

2

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. Häfner FM, et al. Among authors: leal sm. Am J Hum Genet. 2000 Apr;66(4):1437-42. doi: 10.1086/302865. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739769 Free PMC article.

3

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.

4

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.

5

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.

6

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.

7

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.

8

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.

9

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

Rafiq MA, Ansar M, Pham T, Amin-ud-Din M, Anwar M, Haque S, Chahrour MH, Yan K, Leal SM, Ahmad W. Rafiq MA, et al. Among authors: leal sm. Clin Genet. 2004 Jul;66(1):73-8. doi: 10.1111/j.0009-9163.2004.00273.x. Clin Genet. 2004. PMID: 15200512 Free PMC article.

10

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

Ansar M, Chahrour MH, Amin Ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM. Ansar M, et al. Among authors: leal sm. Hum Hered. 2004;57(4):195-9. doi: 10.1159/000081446. Hum Hered. 2004. PMID: 15583425 Free PMC article.

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

407 results

Search Page

Filters