Results 171 to 180 of about 37,333 (227)

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

, 2012
Ajoy Vincent, Tom Wright, Yaiza Garcia-Sanchez, M. L. Kisilak, Melanie C. W. Campbell, Carol A. Westall, Elise Héon   +6 more
openalex   +2 more sources

Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone–rod dystrophy (COD-1) pedigree [PDF]

, 2000
Jeremiah Brown, Alan Kimura, Michael B. Gorin   +2 more
openalex   +1 more source

Reviewer #2 (Public review): Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy

Meet K Patel, Warlen Piedade, Jakub K Famulski   +2 more
openalex   +1 more source

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1 [PDF]

, 2011
Gaël Manès, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéćhal, Anne Bolland-Augé, Diana Zélénika, Christian P. Hamel   +8 more
openalex   +1 more source

prominin-1-null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy and RPE atrophy.

J Cell Sci
Carr BJ, Skitsko D, Kriese LM, Song J, Li Z, Ju MJ, Moritz OL.   +6 more
europepmc   +1 more source

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [PDF]

, 2020
openaire   +1 more source

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

European Journal of Human Genetics, 2017
Anna Skorczyk-Werner, W. Chiang, Anna Wawrocka, Katarzyna Wicher, M. Jarmuż-Szymczak, M. Kostrzewska-Poczekaj, A. Jamsheer, R. Płoski, M. Rydzanicz, D. Pojda-Wilczek, N. Weisschuh, B. Wissinger, S. Kohl, Jonathan H. Lin, M. Krawczyński   +14 more
semanticscholar   +1 more source

Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures [PDF]

B. Tharmarajah, Elisa E. Cornish, Jonathan V. Nguyen, Elizabeth H Barnes, Kate E. Leahy, Anagha Vaze, Robyn V. Jamieson, John Grigg   +7 more
openalex   +1 more source

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. [PDF]

Medicine (Baltimore), 2018
Wang L, Qi A, Pan H, Liu B, Feng J, Chen W, Wang B.   +6 more
europepmc   +1 more source