Zobrazeno 1 - 10
of 2 080
pro vyhledávání: '"S Amer"'
Autor:
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari
Publikováno v:
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-ge
Externí odkaz:
https://doaj.org/article/100510e296874924a61b4222d50d1e2c
Autor:
Xiaodong Jiao, Shahid Y Khan, Haiba Kaul, Tariq Butt, Muhammad Asif Naeem, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 14, Iss 12, p e0225010 (2019)
PurposeTo investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family.MethodsAll participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were
Externí odkaz:
https://doaj.org/article/94816b39b6e244aabe4e691174a06824
Autor:
Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007504 (2018)
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous f
Externí odkaz:
https://doaj.org/article/baf42b0095e24ebeabdac8b3ae0ecd02
Autor:
Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0171403 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0137973.].
Externí odkaz:
https://doaj.org/article/23fc09a8eda8473484d8d58428943b68
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0173719 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0167562.].
Externí odkaz:
https://doaj.org/article/d8d95d370b8b4cb59899a0efcdf14b9d
Autor:
Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O Khan, Qiwei Wang, David Li, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157005 (2016)
This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cata
Externí odkaz:
https://doaj.org/article/3166a177de8b4970a43162421fedeb93
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167562 (2016)
The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree.All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history,
Externí odkaz:
https://doaj.org/article/c9f4adf0b7e7473aba3081364ed4681f
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0162620 (2016)
To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family.All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenot
Externí odkaz:
https://doaj.org/article/22aedd3823ee4215ad62eaf53586fee8
Autor:
Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0137973 (2015)
This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photogr
Externí odkaz:
https://doaj.org/article/429721841630440682ff75a7929d6997
Autor:
Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0136561 (2015)
PURPOSE:To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS:A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed
Externí odkaz:
https://doaj.org/article/32c830b59a2c4bc2a01910bbdebdfdd8