These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
199 related articles for article (PubMed ID: 36362148)
1. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Jimenez HJ; Procopio RA; Thuma TBT; Marra MH; Izquierdo N; Klufas MA; Nagiel A; Pennesi ME; Pulido JS Int J Mol Sci; 2022 Nov; 23(21):. PubMed ID: 36362148 [TBL] [Abstract][Full Text] [Related]
2. A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes. Cicerone AP; Dailey W; Sun M; Santos A; Jeong D; Jones L; Koustas K; Drekh M; Schmitz K; Haque N; Felisky JA; Guzman AE; Mellert K; Trese MT; Capone A; Drenser KA; Mitton KP Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328049 [TBL] [Abstract][Full Text] [Related]
3. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R Genet Test Mol Biomarkers; 2017 Feb; 21(2):66-73. PubMed ID: 28005406 [TBL] [Abstract][Full Text] [Related]
4. Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. Rao FQ; Cai XB; Cheng FF; Cheng W; Fang XL; Li N; Huang XF; Li LH; Jin ZB Invest Ophthalmol Vis Sci; 2017 May; 58(5):2623-2629. PubMed ID: 28494495 [TBL] [Abstract][Full Text] [Related]
5. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771 [TBL] [Abstract][Full Text] [Related]
6. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy. Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614 [TBL] [Abstract][Full Text] [Related]
7. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland. Conti GM; Vaclavik V; Rivolta C; Escher P; Schorderet DF; Munier FL; Tran HV Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664 [TBL] [Abstract][Full Text] [Related]
8. A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing. Areblom M; Kjellström S; Andréasson S; Öhberg A; Gränse L; Kjellström U Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510321 [TBL] [Abstract][Full Text] [Related]
9. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. Motta FL; Salles MV; Costa KA; Filippelli-Silva R; Martin RP; Sallum JMF Sci Rep; 2017 Aug; 7(1):8654. PubMed ID: 28819299 [TBL] [Abstract][Full Text] [Related]
10. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. Munir A; Afsar S; Rehman AU BMC Ophthalmol; 2024 Feb; 24(1):55. PubMed ID: 38317096 [TBL] [Abstract][Full Text] [Related]
11. Mutation spectrum in a cohort with familial exudative vitreoretinopathy. Qu N; Li W; Han DM; Gao JY; Yang ZT; Jiang L; Liu TB; Chen YX; Jiang XS; Zhou L; Wu JH; Huang X Mol Genet Genomic Med; 2022 Sep; 10(9):e2021. PubMed ID: 35876299 [TBL] [Abstract][Full Text] [Related]
13. Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management. Daich Varela M; Conti GM; Malka S; Vaclavik V; Mahroo OA; Webster AR; Tran V; Michaelides M Ophthalmology; 2023 Dec; 130(12):1327-1335. PubMed ID: 37544434 [TBL] [Abstract][Full Text] [Related]
14. Genetic spectrum of retinal dystrophies in Tunisia. Habibi I; Falfoul Y; Turki A; Hassairi A; El Matri K; Chebil A; Schorderet DF; El Matri L Sci Rep; 2020 Jul; 10(1):11199. PubMed ID: 32641690 [TBL] [Abstract][Full Text] [Related]
15. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Pontikos N; Arno G; Jurkute N; Schiff E; Ba-Abbad R; Malka S; Gimenez A; Georgiou M; Wright G; Armengol M; Knight H; Katz M; Moosajee M; Yu-Wai-Man P; Moore AT; Michaelides M; Webster AR; Mahroo OA Ophthalmology; 2020 Oct; 127(10):1384-1394. PubMed ID: 32423767 [TBL] [Abstract][Full Text] [Related]
16. Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. Repo P; Järvinen RS; Sankila EM; Paavo M; Ellonen P; Kivelä TT; Turunen JA Clin Genet; 2021 Jan; 99(1):193-198. PubMed ID: 32901921 [TBL] [Abstract][Full Text] [Related]
17. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Perea-Romero I; Gordo G; Iancu IF; Del Pozo-Valero M; Almoguera B; Blanco-Kelly F; Carreño E; Jimenez-Rolando B; Lopez-Rodriguez R; Lorda-Sanchez I; Martin-Merida I; Pérez de Ayala L; Riveiro-Alvarez R; Rodriguez-Pinilla E; Tahsin-Swafiri S; Trujillo-Tiebas MJ; ; ; ; Garcia-Sandoval B; Minguez P; Avila-Fernandez A; Corton M; Ayuso C Sci Rep; 2021 Jan; 11(1):1526. PubMed ID: 33452396 [TBL] [Abstract][Full Text] [Related]
19. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy. Pierrache LHM; Messchaert M; Thiadens AAHJ; Haer-Wigman L; de Jong-Hesse Y; van Zelst-Stams WAG; Collin RWJ; Klaver CCW; van den Born LI Invest Ophthalmol Vis Sci; 2019 May; 60(6):2049-2063. PubMed ID: 31074760 [TBL] [Abstract][Full Text] [Related]
20. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Nikopoulos K; Venselaar H; Collin RW; Riveiro-Alvarez R; Boonstra FN; Hooymans JM; Mukhopadhyay A; Shears D; van Bers M; de Wijs IJ; van Essen AJ; Sijmons RH; Tilanus MA; van Nouhuys CE; Ayuso C; Hoefsloot LH; Cremers FP Hum Mutat; 2010 Jun; 31(6):656-66. PubMed ID: 20340138 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]