Results 161 to 170 of about 37,333 (227)

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

, 2009
David Parry, Carmel Toomes, L. Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca K. Chance, Steven Swendeman, Lauren L. Daniele, Kelly Springell, Matthew Adams, Colin A. Johnson, Adam Booth, Hussain Jafri, Yasmin Abdul Rashid, Eyal Banin, Tim M. Strom, Debora B. Farber, Dror Sharon, Carl Blobel, Edward N. Pugh, Eric A. Pierce, Chris F. Inglehearn   +26 more
openalex   +1 more source

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy [PDF]

, 2014
Rehan Sadiq Shaikh, Peggy Reuter, Robert A. Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad Imran Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger, Zubair M. Ahmed   +10 more
openalex   +1 more source

A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case [PDF]

, 2017
Cécile Méjécase, Saddek Mohand‐Saïd, Saïd El Shamieh, Antonio Arnaiz‐Villena, Christel Condroyer, Steven G. Blanchard, Mélanie Letexier, Jean‐Paul Saraiva, José‐Alain Sahel, Isabelle Audo, Christina Zeitz   +10 more
openalex   +1 more source

Cone and cone-rod dystrophies. [PDF]

Journal of Medical Genetics, 1992
openaire   +2 more sources

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts [PDF]

Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, G Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini   +9 more
openalex   +1 more source

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene

Acta ophthalmologica, 2018
Fadi Nasser, N. Weisschuh, P. Maffei, G. Milan, Corina Heller, E. Zrenner, S. Kohl, L. Kuehlewein   +7 more
semanticscholar   +1 more source

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

, 2018
Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Héon, Aparna Bhan, Omar A. Mahroo, Anthony G. Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides   +12 more
openalex   +1 more source

Cone-rod dystrophy can be a manifestation of Danon disease [PDF]

, 2012
Alberta A. H. J. Thiadens, Niki W.R. Slingerland, Ralph J. Florijn, Gerhard H. Visser, Frans C. C. Riemslag, Caroline C. W. Klaver   +5 more
openalex   +1 more source

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

, 2009
Keiko Miyadera, Kumiko Kato, Jesús Aguirre‐Hernández, Tsuyoshi Tokuriki, Kyohei Morimoto, Claudia Busse, Keith C. Barnett, Nigel G. Holmes, Hiroyuki Ogawa, Nobuo Sasaki, Cathryn S. Mellersh, David R. Sargan   +11 more
openalex   +1 more source

Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019
Zhen Qu, Tinsae Assefa Yimer, Shanglun Xie, F. Wong, Shanshan Yu, Xiliang Liu, Shanshan Han, Juanjuan Ma, Zhaojing Lu, Xuebin Hu, Yayun Qin, Yuwen Huang, Yuexia Lv, Jingzhen Li, Zhao-hui Tang, Fei Liu, Mugen Liu   +16 more
semanticscholar   +1 more source