Ansar M - Search Results

1

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE. Ansar M, et al. Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406. Hum Mol Genet. 2019. PMID: 30481285 Free PMC article.

2

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. Chishti MS, et al. Among authors: ansar m. J Hum Genet. 2009 Mar;54(3):141-4. doi: 10.1038/jhg.2009.2. Epub 2009 Feb 20. J Hum Genet. 2009. PMID: 19229252 Free PMC article.

3

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. Basit S, et al. Among authors: ansar m. Hum Genet. 2010 Aug;128(2):213-20. doi: 10.1007/s00439-010-0847-y. Epub 2010 Jun 11. Hum Genet. 2010. PMID: 20544222

4

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. Basit S, et al. Among authors: ansar m. Hum Genet. 2011 Apr;129(4):379-85. doi: 10.1007/s00439-010-0934-0. Epub 2010 Dec 22. Hum Genet. 2011. PMID: 21181198 Free PMC article.

5

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.

Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M. Khan MA, et al. Among authors: ansar m. BMC Med Genet. 2011 Apr 22;12:56. doi: 10.1186/1471-2350-12-56. BMC Med Genet. 2011. PMID: 21513506 Free PMC article.

6

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Rafiq MA, et al. Among authors: ansar m. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.

7

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. Umm-e-Kalsoom, et al. Among authors: ansar m. Hum Genet. 2012 Mar;131(3):415-22. doi: 10.1007/s00439-011-1085-7. Epub 2011 Aug 30. Hum Genet. 2012. PMID: 21877132

8

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. Ansar M, et al. J Hum Genet. 2011 Dec;56(12):866-8. doi: 10.1038/jhg.2011.110. Epub 2011 Sep 22. J Hum Genet. 2011. PMID: 21937999 Free PMC article.

9

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Khan MA, et al. Among authors: ansar m. Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541562 Free PMC article.

10

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: ansar m. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542

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