Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

Autor: Jeffrey C. Murray, Azeez Butali, Mulualem Gesses, Akinola L Ladeinde, Jennifer Rigdon, Christian Ibezi Emeka, Ramat Oyebunmi Braimah, Babatunde S. Aregbesola, Paul Gravem, Taye Hailu, Dee Ann Even, Mobolanle O. Ogunlewe, Lauren A. L. Gaines, Peter A. Mossey, Fikre Abate, Milliard Deribew, Ibrahim Mohammed, Adebowale Adeyemo, Wasiu Lanre Adeyemo, Mekonen Eshete, Olutayo James

Publikováno v: Molecular Genetics & Genomic Medicine

Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1d9c995af3ce8f8fdd0bb286064eed
http://europepmc.org/articles/PMC4049366

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

Autor: Jeffrey C. Murray, Walid D. Fakhouri, Terri H. Beaty, Richard K. Wilson, Tamara Busch, Margaret A. Taub, Mary L. Marazita, Karyn Meltz Steinberg, Jacqueline T. Hecht, Andrew C. Lidral, Frederic W.-B. Deleyiannis, Margaret M. Parker, Ingo Ruczinski, Robert S. Fulton, Jennifer Rigdon, Youssef A. Kousa, Andrew E. Czeizel, Jacqueline B. Hetmanski, Daniel C. Koboldt, Huan Liu, George M. Weinstock, Jennifer Standley, Ali Naji, Ferdouse Begum, Alan F. Scott, George L. Wehby, Hang Wang, Robert A. Cornell, Elizabeth J. Leslie, Brian C. Schutte, Qunyuan Zhang, David E. Larson, Jenna C. Carlson, Kaare Christensen

Publikováno v: Leslie, E J, Taub, M A, Liu, H, Steinberg, K M, Koboldt, D C, Zhang, Q, Carlson, J C, Hetmanski, J B, Wang, H, Larson, D E, Fulton, R S, Kousa, Y A, Fakhouri, W D, Naji, A, Ruczinski, I, Begum, F, Parker, M M, Busch, T, Standley, J, Rigdon, J, Hecht, J T, Scott, A F, Wehby, G L, Christensen, K, Czeizel, A E, Deleyiannis, F W-B, Schutte, B C, Wilson, R K, Cornell, R A, Lidral, A C, Weinstock, G M, Beaty, T H, Marazita, M L & Murray, J C 2015, ' Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci ', American Journal of Human Genetics, vol. 96, no. 3, pp. 397-411 . https://doi.org/10.1016/j.ajhg.2015.01.004

Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d148f9e1419c6eaa8d39abc65c7afd7