Leal SM - Search Results

1

Map error reduction: using genetic and sequence-based physical maps to order closely linked markers.

DeWan AT, Parrado AR, Matise TC, Leal SM. DeWan AT, et al. Among authors: leal sm. Hum Hered. 2002;54(1):34-44. doi: 10.1159/000066697. Hum Hered. 2002. PMID: 12446985 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

Homozygosity mapping of the Achromatopsia locus in the Pingelapese.

Winick JD, Blundell ML, Galke BL, Salam AA, Leal SM, Karayiorgou M. Winick JD, et al. Among authors: leal sm. Am J Hum Genet. 1999 Jun;64(6):1679-85. doi: 10.1086/302423. Am J Hum Genet. 1999. PMID: 10330355 Free PMC article.

4

Effects of stratification in the analysis of affected-sib-pair data: benefits and costs.

Leal SM, Ott J. Leal SM, et al. Am J Hum Genet. 2000 Feb;66(2):567-75. doi: 10.1086/302748. Am J Hum Genet. 2000. PMID: 10677317 Free PMC article.

5

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.

6

The map problem: a comparison of genetic and sequence-based physical maps.

DeWan AT, Parrado AR, Matise TC, Leal SM. DeWan AT, et al. Among authors: leal sm. Am J Hum Genet. 2002 Jan;70(1):101-7. doi: 10.1086/324774. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706388 Free PMC article.

7

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Bespalova IN, et al. Among authors: leal sm. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.

8

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.

9

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.

10

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.

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