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Page 1
Mutation of ATF6 causes autosomal recessive achromatopsia.
Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM. Ansar M, et al. Among authors: amin ud din m. Hum Genet. 2015 Sep;134(9):941-50. doi: 10.1007/s00439-015-1571-4. Epub 2015 Jun 11. Hum Genet. 2015. PMID: 26063662 Free PMC article.
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics; Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Santos-Cortez RL, et al. Among authors: amin ud din m. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29. Hum Mol Genet. 2014. PMID: 24482543 Free PMC article.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. Rafiq MA, et al. Among authors: amin ud din m. BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0. BMC Med Genet. 2015. PMID: 26104215 Free PMC article.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M. Ravesh Z, et al. Among authors: amin ud din m. Mol Vis. 2015 Mar 7;21:236-43. eCollection 2015. Mol Vis. 2015. PMID: 25802487 Free PMC article.
20 results