Leal SM - Search Results

1

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. Ahmad F, et al. Among authors: leal sm. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26691440 Free PMC article. No abstract available.

2

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.

3

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.

4

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.

5

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.

6

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.

7

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.

8

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.

9

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. Santos RL, et al. Among authors: leal sm. Clin Genet. 2005 Jan;67(1):61-8. doi: 10.1111/j.1399-0004.2005.00379.x. Clin Genet. 2005. PMID: 15617550 Free PMC article.

10

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.

Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. Mir A, et al. Among authors: leal sm. Am J Med Genet A. 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. Am J Med Genet A. 2005. PMID: 15637723 Free PMC article.

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