A Nonsense Mutation (W9X) in CRYAA Causes Autosomal Recessive Cataract in an Inbred Jewish Persian Family
Pras, Eran, Frydman, Moshe, Levy-Nissenbaum, Etgar, Bakhan, Tengiz, Raz, Judith, Assia, Ehud I, Goldman, Boleslaw, Pras, Elon
Published in Investigative ophthalmology & visual science (01.10.2000)
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Published in Investigative ophthalmology & visual science (01.10.2000)
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A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
Pras, E, Pras, E, Bakhan, T, Levy-Nissenbaum, E, Lahat, H, Assia, E I, Garzozi, H J, Kastner, D L, Goldman, B, Frydman, M
Published in The Israel Medical Association journal (01.08.2001)
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Published in The Israel Medical Association journal (01.08.2001)
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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
Bakhan, Tengiz, Serre, Guy, Hillmer, Axel M, Toribio, Jaime, Lahat, Hadas, Goldman, Boleslaw, Bygum, Anette, Guerrin, Marina, Pras, Elon, Simon, Michel, Levy-Nissenbaum, Etgar, Dewald, Georg, Frydman, Moshe, Pierick, Monika, Kubisch, Christian, Kruse, Roland, Betz, Regina C, Cichon, Sven, Nöthen, Markus M, Jonca, Nathalie
Published in Nature genetics (01.06.2003)
Published in Nature genetics (01.06.2003)
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Journal Article
A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family
Pras, Eran, Levy-Nissenbaum, Etgar, Bakhan, Tangiz, Lahat, Hadas, Assia, Ehud, Geffen-Carmi, Noa, Frydman, Moshe, Goldman, Boleslaw, Pras, Elon
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Journal Article
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews
Quintana-Murci, Lluís, Gal, Inbar, Bakhan, Tangiz, Quach, Hélène, Sayar, S Hamid, Shiri-Sverdlov, Ronit, Baruch, Ruth Gershoni, McElreavey, Ken, Dagan, Efrat, Narod, Steven, Friedman, Eitan
Published in Familial cancer (01.06.2005)
Published in Familial cancer (01.06.2005)
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