Works matching Genetics of retinal degeneration

Results: 329

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

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

Quantitative Genetic Analysis of Retinal Degeneration in the Blind Cavefish Astyanax mexicanus.

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

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

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 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

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

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

Mapping of genetic modifiers of Nr2e3 rd7/rd7 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

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 architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period.

Published in:

Human Mutation, 2020, v. 41, n. 9, p. 1514, doi. 10.1002/humu.24064

By:

Weisschuh, Nicole;
Obermaier, Carolin D.;
Battke, Florian;
Bernd, Antje;
Kuehlewein, Laura;
Nasser, Fadi;
Zobor, Ditta;
Zrenner, Eberhart;
Weber, Eva;
Wissinger, Bernd;
Biskup, Saskia;
Stingl, Katarina;
Kohl, Susanne

Publication type:

Article

Electrophysiological and Histologic Evaluation of the Time Course of Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa.

Published in:

Korean Journal of Physiology & Pharmacology, 2013, v. 17, n. 3, p. 229, doi. 10.4196/kjpp.2013.17.3.229

By:

Seol A Jae;
Kun No Ahn;
Ji Young Kim;
Je Hoon Seo;
Hyong Kyu Kim;
Yong Sook Goo

Publication type:

Article

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review.

Published in:

Life (2075-1729), 2024, v. 14, n. 1, p. 107, doi. 10.3390/life14010107

By:

Conway, Marcus P.;
Stephenson, Kirk A. J.;
Zhu, Julia;
Dockery, Adrian;
Burke, Tomas;
Turner, Jacqueline;
Le, Francois Thai;
O'Byrne, James J.;
Keegan, David J.

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

Nutritional Genomics: Implications for Age-Related Macular Degeneration.

Published in:

Nutrients, 2024, v. 16, n. 23, p. 4124, doi. 10.3390/nu16234124

By:

Figueiredo, Inês;
Farinha, Cláudia;
Barreto, Patrícia;
Coimbra, Rita;
Pereira, Pedro;
Marques, João Pedro;
Pires, Isabel;
Cachulo, Maria Luz;
Silva, Rufino

Publication type:

Article

CCL2 single nucleotide polymorphism of rs1024611 implicates prominence of inflammatory cascade by univariate modeling in Indian AMD.

Published in:

PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0193423

By:

Sharma, Neel Kamal;
Sharma, Kaushal;
Singh, Ramandeep;
Sharma, Suresh Kumar;
Anand, Akshay

Publication type:

Article

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194321

By:

Winkler, Thomas W.;
Brandl, Caroline;
Grassmann, Felix;
Gorski, Mathias;
Stark, Klaus;
Loss, Julika;
Weber, Bernhard H. F.;
Heid, Iris M.;
null, null

Publication type:

Article

Long Noncoding RNA-Sox2OT Knockdown Alleviates Diabetes Mellitus-Induced Retinal Ganglion Cell (RGC) injury.

Published in:

Cellular & Molecular Neurobiology, 2017, v. 37, n. 2, p. 361, doi. 10.1007/s10571-016-0380-1

By:

Li, Chao-Peng;
Wang, Shu-Hong;
Wang, Wen-Qi;
Song, Shu-Guang;
Liu, Xiu-Ming

Publication type:

Article

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Published in:

Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00044

By:

Molday, Laurie L.;
Jefferies, Thomas;
Molday, Robert S.

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

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

Published in:

Nature Genetics, 2011, v. 43, n. 10, p. 1001, doi. 10.1038/ng.938

By:

Arakawa, Satoshi;
Takahashi, Atsushi;
Ashikawa, Kyota;
Hosono, Naoya;
Aoi, Tomomi;
Yasuda, Miho;
Oshima, Yuji;
Yoshida, Shigeo;
Enaida, Hiroshi;
Tsuchihashi, Takashi;
Mori, Keisuke;
Honda, Shigeru;
Negi, Akira;
Arakawa, Akira;
Kadonosono, Kazuaki;
Kiyohara, Yutaka;
Kamatani, Naoyuki;
Nakamura, Yusuke;
Ishibashi, Tatsuro;
Kubo, Michiaki

Publication type:

Article

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z

By:

Srikrupa, Natarajan N.;
Sripriya, Sarangapani;
Pavithra, Suriyanarayanan;
Sen, Parveen;
Gupta, Ravi;
Mathavan, Sinnakaruppan

Publication type:

Article

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w

By:

McLaren, Terri L.;
De Roach, John N.;
Thompson, Jennifer A.;
Chen, Fred K.;
Mackey, David A.;
Hoffmann, Ling;
Urwin, Isabella R.;
Lamey, Tina M.

Publication type:

Article

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/940864

By:

Battu, Rajani;
Verma, Anshuman;
Hariharan, Ramesh;
Krishna, Shuba;
Kiran, Ravi;
Jacob, Jemima;
Ganapathy, Aparna;
Ramprasad, Vedam L.;
Kumaramanickavel, Govindasamy;
Jeyabalan, Nallathambi;
Ghosh, Arkasubhra

Publication type:

Article

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.

Published in:

Journal of Ophthalmology, 2024, v. 2024, p. 1, doi. 10.1155/2024/4003914

By:

López-Rodríguez, Víctor R.;
Arce-González, Rocío;
Martínez-Aguilar, Alan;
Rodríguez-López, Carlos E.;
Groman-Lupa, Sergio;
Neria-González, M. Isabel;
Rodríguez-Uribe, Genaro;
Zenteno, Juan C.

Publication type:

Article

Association of Common Variants in TCF4 and PTPRG with Fuchs' Corneal Dystrophy: A Systematic Review and Meta-Analysis.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109142

By:

Lau, Lawrence C. M.;
Ma, Li;
Young, Alvin L.;
Rong, Shi Song;
Jhanji, Vishal;
Brelen, Marten E.;
Pang, Chi Pui;
Chen, Li Jia

Publication type:

Article

Three New Genetic Loci (R1210C in CFH, Variants in COL8A1 and RAD51B) Are Independently Related to Progression to Advanced Macular Degeneration.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087047

By:

Seddon, Johanna M.;
Reynolds, Robyn;
Yu, Yi;
Rosner, Bernard

Publication type:

Article

Modelling the Genetic Risk in Age-Related Macular Degeneration.

Published in:

PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037979

By:

Grassmann, Felix;
Fritsche, Lars G.;
Keilhauer, Claudia N.;
Heid, Iris M.;
Weber, Bernhard H. F.

Publication type:

Article

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021452

By:

Downs, Louise M.;
Wallin-Håkansson, Berit;
Boursnell, Mike;
Marklund, Stefan;
Hedhammar, Åke;
Truvé, Katarina;
Hübinette, Louise;
Lindblad-Toh, Kerstin;
Bergström, Tomas;
Mellersh, Cathryn S.

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

Genomic DNA nanoparticles rescue rhodopsin-associated retinitis pigmentosa phenotype.

Published in:

FASEB Journal, 2015, v. 29, n. 6, p. 2535, doi. 10.1096/fj.15-270363

By:

Zongchao Han;
Banworth, Marcellus J.;
Makkia, Rasha;
Conley, Shannon M.;
Al-Ubaidi, Muayyad R.;
Cooper, Mark J.;
Naash, Muna I.

Publication type:

Article

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

Published in:

Eye (0950-222X), 2012, v. 26, n. 6, p. 866, doi. 10.1038/eye.2012.27

By:

Zhao, L;
Grob, S;
Corey, R;
Krupa, M;
Luo, J;
Du, H;
Lee, C;
Hughes, G;
Lee, J;
Quach, J;
Zhu, J;
Shaw, P X;
Kozak, I;
Zhang, K

Publication type:

Article

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

Published in:

BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4582816

By:

Gao, Tingting;
Tian, Chengqiang;
Hu, Qinrui;
Liu, Zhiming;
Zou, Jimei;
Huang, Lvzhen;
Zhao, Mingwei

Publication type:

Article

Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/7532507

By:

Maugeri, Andrea;
Barchitta, Martina;
Mazzone, Maria Grazia;
Giuliano, Francesco;
Agodi, Antonella

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

Toward an elucidation of the molecular genetics of inherited retinal degenerations.

Published in:

Human Molecular Genetics, 2017, v. 26, p. R2, doi. 10.1093/hmg/ddx185

By:

Farrar, G. Jane;
Carrigan, Matthew;
Dockery, Adrian;
Millington-Ward, Sophia;
Palfi, Arpad;
Chadderton, Naomi;
Humphries, Marian;
Kiang, Anna Sophia;
Kenna, Paul F.;
Humphries, Pete

Publication type:

Article

Alternative splicing and retinal degeneration.

Published in:

Clinical Genetics, 2013, v. 84, n. 2, p. 142, doi. 10.1111/cge.12181

By:

Liu, M M;
Zack, D J

Publication type:

Article

Personalized medicine - the promised land: are we there yet?

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 403, doi. 10.1111/j.1399-0004.2010.01609.x

By:

Li, C.

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

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

Genetic targeting or pharmacological inhibition of galectin-3 dampens microglia reactivity and delays retinal degeneration.

Published in:

2022

By:

Tabel, Mona;
Wolf, Anne;
Szczepan, Manon;
Xu, Heping;
Jägle, Herbert;
Moehle, Christoph;
Chen, Mei;
Langmann, Thomas

Publication type:

journal article

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.

Published in:

BMC Bioinformatics, 2015, v. 16, p. 1, doi. 10.1186/s12859-015-0760-4

By:

Hall, Jacob B.;
Bailey, Jessica N. Cooke;
Hoffman, Joshua D.;
Pericak-Vance, Margaret A.;
Scott, William K.;
Kovach, Jaclyn L.;
Schwartz, Stephen G.;
Agarwal, Anita;
Brantley Jr., Milam A.;
Haines, Jonathan L.;
Bush, William S.

Publication type:

Article