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Items: 1 to 20 of 101

1.

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.

Umm-e-Kalsoom, Basit S, Kamran-ul-Hassan Naqvi S, Ansar M, Ahmad W.

Hum Genet. 2012 Mar;131(3):415-22. doi: 10.1007/s00439-011-1085-7. Epub 2011 Aug 30.

PMID:
21877132
2.

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.

Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W.

J Med Genet. 2013 Jan;50(1):47-53. doi: 10.1136/jmedgenet-2012-101219. Epub 2012 Nov 17.

PMID:
23160277
3.

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P.

Eur J Hum Genet. 2003 May;11(5):409-15.

4.

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

Zhao H, Tian Y, Breedveld G, Huang S, Zou Y, Y J, Chai J, Li H, Li M, Oostra BA, Lo WH, Heutink P.

Eur J Hum Genet. 2002 Mar;10(3):162-6.

5.

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W.

Hum Genet. 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9.

PMID:
20054564
6.

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.

Radhakrishna U, Blouin JL, Mehenni H, Patel UC, Patel MN, Solanki JV, Antonarakis SE.

Am J Hum Genet. 1997 Mar;60(3):597-604.

7.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
8.

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.

Clin Genet. 2007 Jul;72(1):23-9.

PMID:
17594396
9.

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.

Clin Genet. 2005 Sep;68(3):262-7.

10.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.

Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. Epub 2006 Dec 12.

11.

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.

Ali G, Santos RL, John P, Wambangco MA, Lee K, Ahmad W, Leal S.

Clin Genet. 2006 May;69(5):429-33.

12.

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6.

PMID:
15671291
13.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Basit S, Ali G, Wasif N, Ansar M, Ahmad W.

Hum Genet. 2010 Aug;128(2):213-20. doi: 10.1007/s00439-010-0847-y. Epub 2010 Jun 11.

PMID:
20544222
14.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PMID:
11581183
15.

A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.

Naz S, Riazuddin SA, Li L, Shahid M, Kousar S, Sieving PA, Hejtmancik JF, Riazuddin S.

Am J Ophthalmol. 2010 May;149(5):861-6. doi: 10.1016/j.ajo.2009.12.034. Epub 2010 Mar 15.

16.

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM.

J Hum Genet. 2009 Mar;54(3):141-4. doi: 10.1038/jhg.2009.2. Epub 2009 Feb 20.

17.

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.

Am J Med Genet A. 2005 Feb 15;133A(1):23-6.

18.

A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.

Hameed A, Khaliq S, Ismail M, Anwar K, Mehdi SQ, Bessant D, Payne AM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2001 Jun;42(7):1436-8.

PMID:
11381043
19.

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Basit S, Lee K, Habib R, Chen L, Umm-e-Kalsoom, Santos-Cortez RL, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM.

Hum Genet. 2011 Apr;129(4):379-85. doi: 10.1007/s00439-010-0934-0. Epub 2010 Dec 22.

20.

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H.

Hum Hered. 2005;60(3):123-8. Epub 2005 Oct 18.

PMID:
16244493

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