Leal SM - Search Results

1

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. Mendoza-Fandino GA, et al. Among authors: leal sm. Clin Genet. 2011 Sep;80(3):265-72. doi: 10.1111/j.1399-0004.2010.01529.x. Epub 2010 Sep 8. Clin Genet. 2011. PMID: 21443745 Free PMC article.

2

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

DeWan AT, Parrado AR, Leal SM. DeWan AT, et al. Among authors: leal sm. 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.

3

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.

4

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

Irshad S, Santos RL, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM. Irshad S, et al. Among authors: leal sm. Clin Genet. 2005 Sep;68(3):262-7. doi: 10.1111/j.1399-0004.2005.00492.x. Clin Genet. 2005. PMID: 16098016 Free PMC article.

5

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. Hassan MJ, et al. Among authors: leal sm. Hum Genet. 2006 Jan;118(5):605-10. doi: 10.1007/s00439-005-0079-8. Epub 2005 Oct 29. Hum Genet. 2006. PMID: 16261342 Free PMC article.

6

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. Naeem M, et al. Among authors: leal sm. J Med Genet. 2006 Mar;43(3):274-9. doi: 10.1136/jmg.2005.033381. J Med Genet. 2006. PMID: 16525032 Free PMC article.

7

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. Tariq A, et al. Among authors: leal sm. J Mol Med (Berl). 2006 Jun;84(6):484-90. doi: 10.1007/s00109-005-0023-3. Epub 2006 May 4. J Mol Med (Berl). 2006. PMID: 16596430 Free PMC article.

8

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. Among authors: leal sm. 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.

9

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. Among authors: leal sm. J Med Genet. 2006 Jul;43(7):e33. doi: 10.1136/jmg.2005.037929. J Med Genet. 2006. PMID: 16816020 Free PMC article.

10

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W. Wali A, et al. Among authors: leal sm. Clin Genet. 2006 Sep;70(3):233-9. doi: 10.1111/j.1399-0004.2006.00661.x. Clin Genet. 2006. PMID: 16922726 Free PMC article.

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