Works matching Genetics of retinal degeneration

Results: 324

A Fluorescence-Based Genetic Screen to Study Retinal Degeneration in Drosophila.

Published in:

PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144925

By:

Huang, Yu;
Xie, Jun;
Wang, Tao

Publication type:

Article

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Published in:

2017

By:

Ku, Cristy A.;
Hull, Sarah;
Arno, Gavin;
Vincent, Ajoy;
Carss, Keren;
Kayton, Robert;
Weeks, Douglas;
Anderson, Glenn W.;
Geraets, Ryan;
Parker, Camille;
Pearce, David A.;
Michaelides, Michel;
MacLaren, Robert E.;
Robson, Anthony G.;
Holder, Graham E.;
Heon, Elise;
Raymond, F. Lucy;
Moore, Anthony T.;
Webster, Andrew R.;
Pennesi, Mark E.

Publication type:

journal article

Mapping of genetic modifiers of Nr2e3 <sup> rd7/rd7 </sup> that suppress retinal degeneration and restore blue cone cells to normal quantity.

Published in:

Mammalian Genome, 2008, v. 19, n. 3, p. 145, doi. 10.1007/s00335-008-9092-2

By:

Haider, Neena B.;
Weidong Zhang;
Hurd, Ron;
Ikeda, Akihiro;
Nystuen, Arne M.;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23

By:

Jonsson, Frida;
Burstedt, Marie S;
Sandgren, Ola;
Norberg, Anna;
Golovleva, Irina

Publication type:

Article

Molecular genetics of inherited retinal degenerations in Icelandic patients.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 156, doi. 10.1111/cge.13967

By:

Thorsteinsson, Daniel A.;
Stefansdottir, Vigdis;
Eysteinsson, Thor;
Thorisdottir, Sigridur;
Jonsson, Jon J.

Publication type:

Article

Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49131-z

By:

Hwang, Sungsoon;
Kang, Se Woong;
Jang, Ja-Hyun;
Kim, Sang Jin

Publication type:

Article

Quantitative Genetic Analysis of Retinal Degeneration in the Blind Cavefish <i>Astyanax mexicanus</i>.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057281

By:

O'Quin, Kelly E.;
Yoshizawa, Masato;
Doshi, Pooja;
Jeffery, William R.

Publication type:

Article

The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified.

Published in:

Acta Ophthalmologica (1755375X), 2019, v. 97, n. 8, p. 805, doi. 10.1111/aos.14128

By:

Avela, Kristiina;
Salonen‐Kajander, Riitta;
Laitinen, Arja;
Ramsden, Simon;
Barton, Stephanie;
Rudanko, Sirkka‐Liisa

Publication type:

Article

Genetic and functional complexity of inherited retinal degeneration.

Published in:

Behavioral & Brain Sciences, 1995, v. 18, n. 3, p. 501, doi. 10.1017/S0140525X00039583

By:

Daiger, Stephen P.;
Sullivan, Lori S.;
Rodriguez, Joseph A.

Publication type:

Article

117. AAV-Mediated Erythropoietin Gene Transfer Protects from Genetic and Light-Induced Retinal Degeneration

Published in:

2005

By:

Allocca, Mariacarmela;
Rex, Tonia S.;
Domenici, Luciano;
Bennet, Jean;
Rivera, Victor M.;
Auricchio, Alberto

Publication type:

Abstract

Association of No-Cost Genetic Testing Program Implementation and Patient Characteristics With Access to Genetic Testing for Inherited Retinal Degenerations.

Published in:

2021

By:

Zhao, Peter Y.;
Branham, Kari;
Schlegel, Dana;
Fahim, Abigail T.;
Jayasundera, K. Thiran

Publication type:

journal article

A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.

Published in:

Genetics Selection Evolution, 2016, v. 48, p. 1, doi. 10.1186/s12711-016-0232-y

By:

Michot, Pauline;
Chahory, Sabine;
Marete, Andrew;
Grohs, Cécile;
Dagios, Dimitri;
Donzel, Elise;
Aboukadiri, Abdelhak;
Deloche, Marie-Christine;
Allais-Bonnet, Aurélie;
Chambrial, Matthieu;
Barbey, Sarah;
Genestout, Lucie;
Boussaha, Mekki;
Danchin-Burge, Coralie;
Fritz, Sébastien;
Boichard, Didier;
Capitan, Aurélien

Publication type:

Article

Investigation of Key Signaling Pathways Associating miR-204 and Common Retinopathies.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5568113

By:

Bereimipour, Ahmad;
Satarian, Leila;
Taleahmad, Sara

Publication type:

Article

Inherited retinal degeneration current genetics practices – a needs assessment.

Published in:

2020

By:

Strait, Sydney;
Loman, Rebecca;
Erickson, Lindsay;
DeBenedictis, Meghan

Publication type:

Report

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 1, p. 73, doi. 10.1080/13816810.2017.1373830

By:

Villanueva, Adda;
Biswas, Pooja;
Kishaba, Kameron;
Suk, John;
Tadimeti, Keerti;
Raghavendra, Pongali B;
Nadeau, Karine;
Lamontagne, Bruno;
Busque, Lambert;
Geoffroy, Steve;
Mongrain, Ian;
Asselin, Géraldine;
Provost, Sylvie;
Dubé, Marie-Pierre;
Nudleman, Eric;
Ayyagari, Radha

Publication type:

Article

Oxidative Stress Induces Biphasic ERK1/2 Activation in the RPE with Distinct Effects on Cell Survival at Early and Late Activation.

Published in:

Current Eye Research, 2015, v. 40, n. 8, p. 853, doi. 10.3109/02713683.2014.961613

By:

Koinzer, Stefan;
Reinecke, Kirstin;
Herdegen, Thomas;
Roider, Johann;
Klettner, Alexa

Publication type:

Article

Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration–Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data.

Published in:

Genes, 2023, v. 14, n. 11, p. 2093, doi. 10.3390/genes14112093

By:

Clark, Jessica A.;
Anderson, Heidi;
Donner, Jonas;
Pearce-Kelling, Susan;
Ekenstedt, Kari J.

Publication type:

Article

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

Published in:

Genes, 2023, v. 14, n. 11, p. 2056, doi. 10.3390/genes14112056

By:

Stepanova, Anna;
Ogorodova, Natalya;
Kadyshev, Vitaly;
Shchagina, Olga;
Kutsev, Sergei;
Polyakov, Aleksandr

Publication type:

Article

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Published in:

Genes, 2022, v. 13, n. 4, p. 615, doi. 10.3390/genes13040615

By:

Zhu, Julia;
Stephenson, Kirk A. J.;
Dockery, Adrian;
Turner, Jacqueline;
O'Byrne, James J.;
Fitzsimon, Susan;
Farrar, G. Jane;
Flitcroft, D. Ian;
Keegan, David J.

Publication type:

Article

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Published in:

Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959

By:

Tracewska, Anna M.;
Kocyła-Karczmarewicz, Beata;
Rafalska, Agnieszka;
Murawska, Joanna;
Jakubaszko-Jablonska, Joanna;
Rydzanicz, Małgorzata;
Stawiński, Piotr;
Ciara, Elżbieta;
Khan, Muhammad Imran;
Henkes, Arjen;
Hoischen, Alexander;
Gilissen, Christian;
van de Vorst, Maartje;
Cremers, Frans P. M.;
Płoski, Rafał;
Chrzanowska, Krystyna H.

Publication type:

Article

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy.

Published in:

Genes, 2018, v. 9, n. 12, p. 643, doi. 10.3390/genes9120643

By:

Nanda, Anika;
Salvetti, Anna P.;
Clouston, Penny;
Downes, Susan M.;
MacLaren, Robert E.

Publication type:

Article

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Published in:

Genes, 2018, v. 9, n. 7, p. 360, doi. 10.3390/genes9070360

By:

Wang, Likun;
Zhang, Jinlu;
Chen, Ningning;
Wang, Lei;
Zhang, Fengsheng;
Ma, Zhizhong;
Li, Genlin;
Yang, Liping

Publication type:

Article

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Published in:

Genes, 2017, v. 8, n. 10, p. 280, doi. 10.3390/genes8100280

By:

Di Iorio, Valentina;
Karali, Marianthi;
Brunetti-Pierri, Raffaella;
Filippelli, Mariaelena;
Di Fruscio, Giuseppina;
Pizzo, Mariateresa;
Mutarelli, Margherita;
Nigro, Vincenzo;
Testa, Francesco;
Banfi, Sandro;
Simonelli, Francesca

Publication type:

Article

Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration.

Published in:

Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 3, p. 207, doi. 10.1016/j.ejmhg.2017.09.003

By:

Bakri, Norshakimah Md;
Ramachandran, Vasudevan;
Hoo Fan Kee;
Subrayan, Visvaraja;
Isa, Hazlita;
Ngah, Nor Fariza;
Mohamad, Nur Afiqah;
Ching Siew Mooi;
Chan Yoke Mun;
Ismail, Patimah;
Ismail, Fazliana;
Sukiman, Erma Suryana;
Wan Sulaiman, Wan Alia

Publication type:

Article

Canine inhertited retinal degenerations: update on molecular genetic research and its clinical application.

Published in:

Journal of Small Animal Practice, 2002, v. 43, n. 10, p. 426, doi. 10.1111/j.1748-5827.2002.tb00008.x

By:

Lin, C-T.;
Gould, D. J.;
Petersen-Jones, S. M.;
Sargan, D. R.

Publication type:

Article

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 995, doi. 10.3390/ijms23020995

By:

Stephenson, Kirk A. J.;
Zhu, Julia;
Dockery, Adrian;
Whelan, Laura;
Burke, Tomás;
Turner, Jacqueline;
O'Byrne, James J.;
Farrar, G. Jane;
Keegan, David J.

Publication type:

Article

Clinical and genetic characteristics of pachydrusen in patients with exudative age-related macular degeneration.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48494-6

By:

Fukuda, Yoshiko;
Sakurada, Yoichi;
Yoneyama, Seigo;
Kikushima, Wataru;
Sugiyama, Atsushi;
Matsubara, Mio;
Tanabe, Naohiko;
Iijima, Hiroyuki

Publication type:

Article

Rescue of Photoreceptors by BDNF Gene Transfer Using In Vivo Electroporation in the RCS Rat of Retinitis Pigmentosa.

Published in:

Current Eye Research, 2009, v. 34, n. 9, p. 791, doi. 10.1080/02713680903086018

By:

Zhang, Meng;
Mo, Xiaofen;
Fang, Yuan;
Guo, Wenyi;
Wu, Jihong;
Zhang, Shenghai;
Huang, Qian

Publication type:

Article

Recent advances and future prospects in choroideremia.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 2195, doi. 10.2147/OPTH.S65732

By:

Zinkernagel, Martin S.;
MacLaren, Robert E.

Publication type:

Article

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 571, doi. 10.1002/ajmg.c.31835

By:

Branham, Kari;
Schlegel, Dana;
Fahim, Abigail T.;
Jayasundera, K. Thiran

Publication type:

Article

Age-Related Macular Degeneration: Current Management.

Published in:

Ocular Surgery News, 2015, v. 33, n. 2, p. 32

By:

Munsen, Richard S.;
Duker, Jay S.;
Witkin, Andre J.

Publication type:

Article

Genetics may account for prevalent AMD subtype in Asians.

Published in:: Ocular Surgery News, 2015, v. 33, n. 1, p. 15
Publication type:: Article

IN THE JOURNALS.

Published in:

Ocular Surgery News, 2014, v. 32, n. 16, p. 27

By:

Hasson, Matt

Publication type:

Article

Speaker reinforces AAO stance on guidelines for genetic testing.

Published in:

Ocular Surgery News, 2014, v. 32, n. 13, p. 20

By:

Nale, Patricia

Publication type:

Article

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.

Published in:

Journal of Biochemistry, 2015, v. 158, n. 2, p. 115, doi. 10.1093/jb/mvv028

By:

Songhua Li;
Jane Hu;
Jin, Robin J.;
Aiyar, Ashok;
Jacobson, Samuel G.;
Bok, Dean;
Minghao Jin

Publication type:

Article

Macular degeneration.

Published in:

Australian Journal of Pharmacy, 2014, v. 95, n. 1128, p. 60

By:

Gowan, Jenny;
Roller, Louis

Publication type:

Article

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

Published in:

Genes & Immunity, 2010, v. 11, n. 8, p. 609, doi. 10.1038/gene.2010.39

By:

Kopplin, L J;
Igo, R P;
Wang, Y;
Sivakumaran, T A;
Hagstrom, S A;
Peachey, N S;
Francis, P J;
Klein, M L;
SanGiovanni, J P;
Chew, E Y;
Pauer, G J T;
Sturgill, G M;
Joshi, T;
Tian, L;
Xi, Q;
Henning, A K;
Lee, K E;
Klein, R;
Klein, B E K;
Iyengar, S K

Publication type:

Article

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00180-1

By:

Chen, Ta-Ching;
Huang, Ding-Siang;
Lin, Chao-Wen;
Yang, Chang-Hao;
Yang, Chung-May;
Wang, Victoria Y.;
Lin, Jou-Wei;
Luo, Allen Chilun;
Hu, Fung-Rong;
Chen, Pei-Lung

Publication type:

Article

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.

Published in:

2019

By:

Eung Suk Lee;
Mi-Ae Jang;
Hoon Dong Kim;
Jong Eun Park;
Jong-Won Kim;
Young-Hoon Ohn

Publication type:

Letter to the Editor

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2657, doi. 10.1093/hmg/ddg289

By:

Hayward, Caroline;
Shu, Xinhua;
Cideciyan, Artur V.;
Lennon, Alan;
Barran, Perdita;
Zareparsi, Sepideh;
Sawyer, Lindsay;
Hendry, Grace;
Dhillon, Baljean;
Milam, Ann H.;
Luthert, Philip J.;
Swaroop, Anand;
Hastie, Nicholas D.;
Jacobson, Samuel G.;
Wright, Alan F.

Publication type:

Article

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 177

By:

Del‐Favero, Jurgen;
Krols, Luc;
Michalik, Andrej;
Theuns, Jessie;
Löfgren, Ann;
Goossens, Dirk;
Wehnert, Anita;
Van den Bossche, Dirk;
Van Zand, Karel;
Backhovens, Hubert;
van Regenmorter, Nicole;
Martin, Jean‐Jacques;
Van Broeckhoven, Christine

Publication type:

Article

Study: Response to anti-VEGF therapy not predictable by AMD-associated genes.

Published in:

Ocular Surgery News, 2013, v. 31, n. 9, p. 16

By:

Kronemyer, Bob

Publication type:

Article

Genetic factors in age-related macular degeneration.

Published in:

Ocular Surgery News, 2013, v. 31, n. 6, p. 42

By:

Chi-Chao Chan

Publication type:

Article

If a genetic test (described below) were readily available in your office, would you administer the test?

Published in:: Ocular Surgery News, 2012, v. 30, n. 24, p. 4
Publication type:: Article

In the Journals.

Published in:

Ocular Surgery News, 2012, v. 30, n. 22, p. 10

By:

Osn Retina Staff Writers

Publication type:

Article

AMD needs multiple, individualized strategies for treatment.

Published in:: Ocular Surgery News, 2012, v. 30, n. 11, p. 16
Publication type:: Article

Effect of nutrition, lifestyle factors on AMD merits further study.

Published in:

Ocular Surgery News, 2012, p. 1

By:

Chew, Emily Y.;
Mares, Julie A.

Publication type:

Article

Study shows novel biologic pathway in AMD cascade.

Published in:

Ocular Surgery News, 2010, v. 28, n. 16, p. 15

By:

Hasson, Matt

Publication type:

Article

Nutraceutical Molecules Slow Down Retinal Degeneration, in Tvrm4 Mice a Model of Retinitis Pigmentosa, by Genetic Modulation of Anti-oxidant Pathway.

Published in:

Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.868750

By:

Piano, Ilaria;
Corsi, Francesca;
Polini, Beatrice;
Gargini, Claudia

Publication type:

Article

Genetische Risiken und Therapieentwicklung bei Netzhautdegenerationen.

Published in:

Medizinische Genetik, 2017, v. 29, n. 2, p. 195, doi. 10.1007/s11825-017-0134-6

By:

Grassmann, Felix;
Weber, Bernhard

Publication type:

Article