Zobrazeno 1 - 2
of 2
pro vyhledávání: '"F. Lucy Raymond"'
Autor:
F. Lucy Raymond, Hanne Irene Jensen, Ambreen Kalhoro, Raquel S. Silva, Sabine Defoort-Dhellemmes, Keren J. Carss, Valentina Cipriani, Andrew R. Webster, Claire Marie Dhaenens, Bernard Puech, Gavin Arno, Thomas Rosenberg, Nikolas Pontikos, Anthony T. Moore, Veronica van Heyningen
Publikováno v:
Human Mutation. 40:578-587
The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14–16.2 which overlaps the North Carolina Macular Dystrophy (NCMD) locus MCDR1. NCMD is a non‐progressive developmental macular
Autor:
Shoumo Bhattacharya, Olivera Spasic-Boskovic, Charles E. Schwartz, Catherine Cosgrove, Kathryn Friend, Keren J. Carss, F. Lucy Raymond, Roger E. Stevenson, Anna Hackett, Eric Haan, Zaamin B. Hussain, Matthew E. Hurles, Michael Field, Detelina Grozeva, James A B Floyd, Jozef Gecz, Maria-Isabel Tejada, Jamie Bentham, Mark A. Corbett, Bernard Keavney, Elizabeth Thompson, Marie Shaw, Alessandra Renieri
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2015, 36 (12), pp.1197-1204. ⟨10.1002/humu.22901⟩
Human Mutation, Wiley, 2015, 36 (12), pp.1197-1204. ⟨10.1002/humu.22901⟩
International audience; To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted next-generation sequencin