Zafar AU - Search Results

1

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.

Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. Naz S, et al. Among authors: zafar au. Br J Ophthalmol. 2011 Jul;95(7):1019-24. doi: 10.1136/bjo.2010.189076. Epub 2011 Mar 28. Br J Ophthalmol. 2011. PMID: 21447491 Free PMC article.

2

Molecular genetic diagnosis of beta thalassemia in Pakistan.

Khan SN, Zafar AU, Riazuddin S. Khan SN, et al. Among authors: zafar au. J Pak Med Assoc. 1995 Mar;45(3):66-70. J Pak Med Assoc. 1995. PMID: 7596015

3

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: zafar au. Am J Hum Genet. 2006 Jan;78(1):137-43. doi: 10.1086/499164. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385457 Free PMC article.

4

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. Ain Q, et al. Among authors: zafar au. Hum Genet. 2007 Dec;122(5):445-50. doi: 10.1007/s00439-007-0418-z. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690910

5

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ. Kitajiri SI, et al. Among authors: zafar au. Clin Genet. 2007 Dec;72(6):546-50. doi: 10.1111/j.1399-0004.2007.00895.x. Epub 2007 Sep 17. Clin Genet. 2007. PMID: 17877751

6

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. Khan SY, et al. Among authors: zafar au. Eur J Hum Genet. 2010 Jan;18(1):125-9. doi: 10.1038/ejhg.2009.121. Eur J Hum Genet. 2010. PMID: 19603065 Free PMC article.

7

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Riazuddin S, et al. Among authors: zafar au. Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646679 Free PMC article.

8

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.

Waryah AM, Rehman A, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, Riazuddin S. Waryah AM, et al. Among authors: zafar au. Clin Genet. 2009 Sep;76(3):270-5. doi: 10.1111/j.1399-0004.2009.01209.x. Epub 2009 Jul 23. Clin Genet. 2009. PMID: 19650862

9

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Kaul H, et al. Among authors: zafar au. Mol Vis. 2010 Mar 24;16:511-7. Mol Vis. 2010. PMID: 20361013 Free PMC article.

10

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Yasmeen A, et al. Among authors: zafar au. Mol Vis. 2010 Apr 15;16:682-8. Mol Vis. 2010. PMID: 20405025 Free PMC article.

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