Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Por Shahzadi, Amber, Riazuddin, S Amer, Ali, Shahbaz, Li, David, Khan, Shaheen N, Husnain, Tayyab, Akram, Javed, Sieving, Paul A, Hejtmancik, J Fielding, Riazuddin, Sheikh
Publicado em 2010

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Por Hmani-Aifa, Mounira, Benzina, Zeineb, Zulfiqar, Fareeha, Dhouib, Houria, Shahzadi, Amber, Ghorbel, Abdelmonem, Rebaï, Ahmed, Söderkvist, Peter, Riazuddin, Sheikh, Kimberling, William J, Ayadi, Hammadi
Publicado em 2009

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 em 2011

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

Por Riazuddin, S. Amer, Shahzadi, Amber, Zeitz, Christina, Ahmed, Zubair M., Ayyagari, Radha, Chavali, Venkata R.M., Ponferrada, Virgilio G., Audo, Isabelle, Michiels, Christelle, Lancelot, Marie-Elise, Nasir, Idrees A., Zafar, Ahmad U., Khan, Shaheen N., Husnain, Tayyab, Jiao, Xiaodong, MacDonald, Ian M., Riazuddin, Sheikh, Sieving, Paul A., Katsanis, Nicholas, Hejtmancik, J. Fielding
Publicado em 2010