Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele

Por Wilch, Ellen, Zhu, Mei, Burkhart, Kirk B., Regier, Martha, Elfenbein, Jill L., Fisher, Rachel A., Friderici, Karen H.
Publicado em 2006

A NOVEL DFNB1 DELETION ALLELE SUPPORTS THE EXISTENCE OF A DISTANT CIS-REGULATORY REGION THAT CONTROLS GJB2 AND GJB6 EXPRESSION

Por Wilch, Ellen, Azaiez, Hela, Fisher, Rachel A., Elfenbein, Jill, Murgia, Alessandra, Birkenhäger, Ralf, Bolz, Hanno, Costa, Sueli Matilde Silva, del Castillo, Ignacio, Haaf, Thomas, Hoefsloot, Lies, Kremer, Hannie, Kubisch, Christian, Le Marechal, Cedric, Pandya, Arti, Sartorato, Edi Lúcia, Schneider, Eberhard, Van Camp, Guy, Wuyts, Wim, Smith, Richard HJ, Friderici, Karen H.
Publicado em 2010

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Por Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Publicado no Eur J Hum Genet (2015)