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 no Hum Genome Var (2016)

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 em 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 no Hum Genome Var (2016)

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

Por Li, David, Jin, Chongfei, Jiao, Xiaodong, Li, Lin, Bushra, Tahmina, Naeem, Muhammad Asif, Butt, Nadeem H., Husnain, Tayyab, Sieving, Paul A., Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Publicado em 2014

Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

Por Iqbal, Muhammad, Naeem, Muhammad Asif, Riazuddin, S. Amer, Ali, Shahbaz, Farooq, Tahir, Qazi, Zaheeruddin A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Saima, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Publicado em 2011

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Por Ullah, Inayat, Kabir, Firoz, Iqbal, Muhammad, Gottsch, Clare Brooks S., Naeem, Muhammad Asif, Assir, Muhammad Zaman, Khan, Shaheen N., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado no Mol Vis (2016)

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

Por Naeem, Muhammad Asif, Chavali, Venkata R. M., Ali, Shahbaz, Iqbal, Muhammad, Riazuddin, Saima, Khan, Shaheen N., Husnain, Tayyab, Sieving, Paul A., Ayyagari, Radha, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado em 2012

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

Por Khan, Shahid Y., Ali, Shahbaz, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado no Mol Vis (2015)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Por Kabir, Firoz, Ullah, Inayat, Ali, Shahbaz, Gottsch, Alexander D.H., Naeem, Muhammad Asif, Assir, Muhammad Zaman, Khan, Shaheen N., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado no Mol Vis (2016)

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Por Naeem, Muhammad Asif, Gottsch, Alexander D. H., Ullah, Inayat, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado no Mol Vis (2015)

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Por Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding, Riazuddin, S Amer, Ayyagari, Radha
Publicado no Hum Mol Genet (2017)

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Por Maranhao, Bruno, Biswas, Pooja, Gottsch, Alexander D. H., Navani, Mili, Naeem, Muhammad Asif, Suk, John, Chu, Justin, Khan, Sheen N., Poleman, Rachel, Akram, Javed, Riazuddin, Sheikh, Lee, Pauline, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Ayyagari, Radha
Publicado no PLoS One (2015)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Por Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Kaul, Haiba, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Nadeem, Raheela, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Publicado no PLoS One (2016)

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Por Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Daud, Muhammad, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Iqbal, Hira, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Publicado no PLoS One (2016)

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Por Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Daud, Muhammad, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Iqbal, Hira, Khan, Arif O., Obaisi, Saif Al, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Publicado no PLoS One (2017)

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Por Chen, Jianjun, Wang, Qiwei, Cabrera, Patricia E., Zhong, Zilin, Sun, Wenmin, Jiao, Xiaodong, Chen, Yabin, Govindarajan, Gowthaman, Naeem, Muhammad Asif, Khan, Shaheen N., Ali, Muhammad Hassaan, Assir, Muhammad Zaman, Rahman, Fawad Ur, Qazi, Zaheeruddin A., Riazuddin, Sheikh, Akram, Javed, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Publicado no Invest Ophthalmol Vis Sci (2017)

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

Por Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha
Publicado no Hum Mol Genet (2016)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Por Li, Lin, Chen, Yabin, Jiao, Xiaodong, Jin, Chongfei, Jiang, Dan, Tanwar, Mukesh, Ma, Zhiwei, Huang, Li, Ma, Xiaoyin, Sun, Wenmin, Chen, Jianjun, Ma, Yan, M'hamdi, Oussama, Govindarajan, Gowthaman, Cabrera, Patricia E., Li, Jiali, Gupta, Nikhil, Naeem, Muhammad Asif, Khan, Shaheen N., Riazuddin, Sheikh, Akram, Javed, Ayyagari, Radha, Sieving, Paul A., Riazuddin, S. Amer, Hejtmancik, J. Fielding
Publicado no Invest Ophthalmol Vis Sci (2017)

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Por Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.
Publicado em 2013