Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families

por Firasat, Sabika, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Riazuddin, Sheikh
Publicado 2008

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma

por Firasat, Sabika, Riazuddin, S. Amer, Khan, Shaheen N., Riazuddin, Sheikh
Publicado 2008

CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy

por Eghrari, Allen O., Vahedi, Sina, Afshari, Natalie A., Riazuddin, S. Amer, Gottsch, John D.
Publicado 2017

Pluripotent stem cell–derived corneal endothelial cells as an alternative to donor corneal endothelium in keratoplasty

por Ali, Muhammad, Khan, Shahid Y., Gottsch, John D., Hutchinson, Eric K., Khan, Aisha, Riazuddin, S. Amer
Publicado 2021

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

por Riazuddin, S. Amer, Amiri-Kordestani, Laleh, Kaul, Haiba, Butt, Tariq, Jiao, Xiaodong, Riazuddin, Sheikh, Hejtmancik, J. Fielding
Publicado 2009

Autophagy Requirements for Eye Lens Differentiation and Transparency

por Brennan, Lisa, Costello, M. Joseph, Hejtmancik, J. Fielding, Menko, A. Sue, Riazuddin, S. Amer, Shiels, Alan, Kantorow, Marc
Publicado 2023

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

por Ali, Muhammad, Kabir, Firoz, Thomson, Jason J., Ma, Yinghong, Qiu, Caihong, Delannoy, Michael, Khan, Shahid Y., Riazuddin, S. Amer
Publicado 2019

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma

por Rauf, Bushra, Irum, Bushra, Khan, Shahid Y., Kabir, Firoz, Naeem, Muhammad Asif, Riazuddin, Sheikh, Ayyagari, Radha, Riazuddin, S. Amer
Publicado 2020

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

por Jiao, Xiaodong, Khan, Shahid Y., Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado 2019

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

por Khan, Shahid Y., Ali, Muhammad, Kabir, Firoz, Renuse, Santosh, Na, Chan Hyun, Talbot, C. Conover, Hackett, Sean F., Riazuddin, S. Amer
Publicado 2018

Cigarette Smoke Triggers Loss of Corneal Endothelial Cells and Disruption of Descemet's Membrane Proteins in Mice

por Ali, Muhammad, Khan, Shahid Y., Jang, Yura, Na, Chan Hyun, Talbot, C. Conover, Gottsch, John D., Handa, James T., Riazuddin, S. Amer
Publicado 2021

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

por Rauf, Bushra, Irum, Bushra, Kabir, Firoz, Firasat, Sabika, Naeem, Muhammad Asif, Khan, Shaheen N, Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Publicado 2016

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

por Bashir, Zil-e-Huma, Latief, Noreen, Belyantseva, Inna A., Iqbal, Farheena, Riazuddin, S. Amer, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Publicado 2012

Identification of novel transcripts and peptides in developing murine lens

por Khan, Shahid Y., Ali, Muhammad, Kabir, Firoz, Chen, Ruiqiang, Na, Chan Hyun, Lee, Mei-Chong W., Pourmand, Nader, Hackett, Sean F., Riazuddin, S. Amer
Publicado 2018

Whole genome sequencing data for two individuals of Pakistani descent

por Khan, Shahid Y., Kabir, Firoz, M’Hamdi, Oussama, Jiao, Xiaodong, Naeem, Muhammad Asif, Khan, Shaheen N., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado 2018

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

por Ali, Shahbaz, Riazuddin, S. Amer, Shahzadi, Amber, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Publicado 2011

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

por Kabir, Firoz, Naz, Shagufta, Riazuddin, S. Amer, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Publicado 2013

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

por Ullah, Inayat, Kabir, Firoz, Gottsch, Clare Brooks S, Naeem, Muhammad Asif, Guru, Aditya A, Ayyagari, Radha, Khan, Shaheen N, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Publicado 2016

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

por Biswas, Pooja, Berry, Anne Marie, Zawaydeh, Qais, Bartsch, Dirk-Uwe G., Raghavendra, Pongali B., Hejtmancik, J. Fielding, Khan, Naheed W., Riazuddin, S. Amer, Ayyagari, Radha
Publicado 2022

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

por Irum, Bushra, Kabir, Firoz, Shoshany, Nadav, Khan, Shahid Y., Rauf, Bushra, Naeem, Muhammad Asif, Qaiser, Tanveer A., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado 2022