PMC Links for OMIM (Select 614477) - PMC

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Items: 3

Select item 50810591.

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

Elise Heon, Gunhee Kim, Sophie Qin, Janelle E. Garrison, Erika Tavares, Ajoy Vincent, Nina Nuangchamnong, C. Anthony Scott, Diane C. Slusarski, Val C. Sheffield

Hum Mol Genet. 2016 Jun 1; 25(11): 2283–2294. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw096

PMCID:: PMC5081059

Abstract Article PDF–954K

Select item 43570402.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

Zeinab Ravesh, Mohammed E. El Asrag, Nicole Weisschuh, Martin McKibbin, Peggy Reuter, Christopher M. Watson, Britta Baumann, James A. Poulter, Sundus Sajid, Evangelia S. Panagiotou, James O’Sullivan, Zakia Abdelhamed, Michael Bonin, Mehdi Soltanifar, Graeme C.M. Black, Muhammad Amin-ud Din, Carmel Toomes, Muhammad Ansar, Chris F. Inglehearn, Bernd Wissinger, Manir Ali

Mol Vis. 2015; 21: 236–243. Published online 2015 Mar 7.

PMCID:: PMC4357040

Abstract Article PDF–1.1M

Select item 32579573.

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael P. Kwint, Sabine J. Gijsen, Ramon A.C. van Huet, Rob W.J. Collin, H. Scheffer, Joris A. Veltman, Eberhart Zrenner, the European Retinal Disease Consortium, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers

Am J Hum Genet. 2012 Jan 13; 90(1): 102–109. doi: 10.1016/j.ajhg.2011.11.015