PMC Articles for MedGen (Select 892660) - PMC

Select item 98085511.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

Riccardo Sangermano, Pooja Biswas, Lori S. Sullivan, Emily M. Place, Shyamanga Borooah, Juerg Straubhaar, Eric A. Pierce, Stephen P. Daiger, Kinga M. Bujakowska, Radha Ayaggari

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006247. doi: 10.1101/mcs.a006247

PMCID:: PMC9808551

Article PDF–3.0M

Select item 91031172.

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

Caroline Atef Tawfik, Nagham Maher Elbagoury, Noha Ibrahim Khater, Mona Lotfi Essawi

BMC Ophthalmol. 2022; 22: 217. Published online 2022 May 12. doi: 10.1186/s12886-022-02444-5

PMCID:: PMC9103117

Article PDF–6.5M

Select item 63601043.

Photoreceptor degeneration in a new Cacna1f mutant mouse model

Xufeng Dai, Shiyi Pang, Jieping Wang, Bernard FitzMaurice, Jijing Pang, Bo Chang

Exp Eye Res. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Exp Eye Res. 2019 Feb; 179: 106–114. Published online 2018 Nov 13. doi: 10.1016/j.exer.2018.11.010

PMCID:: PMC6360104

Article PDF–2.8M

Select item 53604534.

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

Miguel de Sousa Dias, Christian P. Hamel, Isabelle Meunier, Juliette Varin, Steven Blanchard, Fiona Boyard, José-Alain Sahel, Christina Zeitz

Mol Vis. 2017; 23: 131–139. Published online 2017 Mar 18.

PMCID:: PMC5360453

Article PDF–1.4M

Select item 28387395.

TRPM1 mutations are associated with the complete form of congenital stationary night blindness

Makoto Nakamura, Rikako Sanuki, Tetsuhiro R. Yasuma, Akishi Onishi, Koji M. Nishiguchi, Chieko Koike, Mikiko Kadowaki, Mineo Kondo, Yozo Miyake, Takahisa Furukawa

Mol Vis. 2010; 16: 425–437. Published online 2010 Mar 12.

PMCID:: PMC2838739

Article PDF–4.2M

Select item 10504386.

Oguchi disease: suggestion of linkage to markers on chromosome 2q.

M A Maw, S John, S Jablonka, B Müller, G Kumaramanickavel, R Oehlmann, M J Denton, A Gal

J Med Genet. 1995 May; 32(5): 396–398. doi: 10.1136/jmg.32.5.396

PMCID:: PMC1050438

Summary Page Browse PDF–551K

Select item 43159177.

Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

José-Alain Sahel, Katia Marazova, Isabelle Audo

Cold Spring Harb Perspect Med. 2015 Feb; 5(2): a017111. doi: 10.1101/cshperspect.a017111

PMCID:: PMC4315917

Article PDF–1.6M

Select item 39439488.

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

Marion Neuillé, Said El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie-Elise Lancelot, Christel Condroyer, Kinga Bujakowska, Olivier Poch, José-Alain Sahel, Isabelle Audo, Christina Zeitz

PLoS One. 2014; 9(3): e90342. Published online 2014 Mar 5. doi: 10.1371/journal.pone.0090342

PMCID:: PMC3943948

Article PDF–5.7M

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