Zobrazeno 1 - 10
of 375
pro vyhledávání: '"Arif O Khan"'
Autor:
Arif O Khan
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 540-542 (2023)
Axenfeld–Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2. Microcornea with myopic chorioretinal atrophy, a less com
Externí odkaz:
https://doaj.org/article/63d25fbdd3994fa181f4fd84adff6eee
Autor:
Sushmita Kaushik, Suneeta Dubey, Sandeep Choudhary, Ria Ratna, Surinder S Pandav, Arif O Khan
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2293-2303 (2022)
Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years second only to cataracts. The fundamental pathophysiology of all childhood glauc
Externí odkaz:
https://doaj.org/article/737a4371c2d746e9a50693ea70077f06
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:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation
Externí odkaz:
https://doaj.org/article/97df3926904048ffaa54612dd30d667d