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Page 1
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.
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: shahzad m. 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.
Molecular and clinical studies of X-linked deafness among Pakistani families.
Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S. Waryah AM, et al. Among authors: shahzad m. J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633365 Free PMC article.
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Rehman AU, et al. Among authors: shahzad m. Hum Genet. 2011 Dec;130(6):759-65. doi: 10.1007/s00439-011-1018-5. Epub 2011 Jun 10. Hum Genet. 2011. PMID: 21660509 Free PMC article.
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM. Shahzad M, et al. Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14. Otolaryngol Head Neck Surg. 2013. PMID: 23770805 Free PMC article.
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Shaikh RS, et al. Among authors: shahzad m. Eur J Hum Genet. 2015 Apr;23(4):473-80. doi: 10.1038/ejhg.2014.136. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052312 Free PMC article.
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Rehman AU, et al. Among authors: shahzad m. Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10. Eur J Hum Genet. 2015. PMID: 25491636 Free PMC article.
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S. Nayak G, et al. Among authors: shahzad m. Hum Genet. 2015 Apr;134(4):423-37. doi: 10.1007/s00439-015-1532-y. Epub 2015 Feb 10. Hum Genet. 2015. PMID: 25666562 Free PMC article.
707 results