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.
182 related articles for article (PubMed ID: 35205402)
1. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: Tachibana N; Hosono K; Nomura S; Arai S; Torii K; Kurata K; Sato M; Shimakawa S; Azuma N; Ogata T; Wada Y; Okamoto N; Saitsu H; Nishina S; Hotta Y Genes (Basel); 2022 Feb; 13(2):. PubMed ID: 35205402 [TBL] [Abstract][Full Text] [Related]
2. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC; JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385 [TBL] [Abstract][Full Text] [Related]
3. Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). Khan AO Ophthalmic Genet; 2018 Oct; 39(5):628-630. PubMed ID: 30019980 [TBL] [Abstract][Full Text] [Related]
5. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059 [TBL] [Abstract][Full Text] [Related]
6. Biallelic Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME Mol Vis; 2020; 26():423-433. PubMed ID: 32565670 [TBL] [Abstract][Full Text] [Related]
7. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in Souzeau E; Thompson JA; McLaren TL; De Roach JN; Barnett CP; Lamey TM; Craig JE Mol Vis; 2018; 24():478-484. PubMed ID: 30090012 [TBL] [Abstract][Full Text] [Related]
8. SRD5A3-CDG: Twins with an intragenic tandem duplication. Rieger M; Türk M; Kraus C; Uebe S; Ekici AB; Krumbiegel M; Huchzermeyer C; Reis A; Thiel C Eur J Med Genet; 2022 May; 65(5):104492. PubMed ID: 35339718 [TBL] [Abstract][Full Text] [Related]
9. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Thompson DA; McHenry CL; Li Y; Richards JE; Othman MI; Schwinger E; Vollrath D; Jacobson SG; Gal A Am J Hum Genet; 2002 Jan; 70(1):224-9. PubMed ID: 11727200 [TBL] [Abstract][Full Text] [Related]
10. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Wheeler PG; Ng BG; Sanford L; Sutton VR; Bartholomew DW; Pastore MT; Bamshad MJ; Kircher M; Buckingham KJ; Nickerson DA; Shendure J; Freeze HH Am J Med Genet A; 2016 Dec; 170(12):3165-3171. PubMed ID: 27480077 [TBL] [Abstract][Full Text] [Related]
11. A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. Nishiguchi KM; Fujita K; Ikeda Y; Kunikata H; Koyanagi Y; Akiyama M; Abe T; Wada Y; Sonoda KH; Nakazawa T Jpn J Ophthalmol; 2020 Jul; 64(4):346-350. PubMed ID: 32193659 [TBL] [Abstract][Full Text] [Related]
12. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition. Ben Ayed I; Ouarda W; Frikha F; Kammoun F; Souissi A; Ben Said M; Bouzid A; Elloumi I; Hamdani TM; Gharbi N; Baklouti N; Guirat M; Mejdoub F; Kharrat N; Boujelbene I; Abdelhedi F; Belguith N; Keskes L; Gibriel AA; Kamoun H; Triki C; Alimi AM; Masmoudi S Am J Med Genet A; 2021 Apr; 185(4):1081-1090. PubMed ID: 33403770 [TBL] [Abstract][Full Text] [Related]
13. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. Kousal B; Honzík T; Hansíková H; Ondrušková N; Čechová A; Tesařová M; Stránecký V; Meliška M; Michaelides M; Lišková P Folia Biol (Praha); 2019; 65(3):134-141. PubMed ID: 31638560 [TBL] [Abstract][Full Text] [Related]
14. Homozygosity for a Novel Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387 [TBL] [Abstract][Full Text] [Related]
16. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. Bruechle NO; Steuernagel P; Zerres K; Kurth I; Eggermann T; Knopp C Pediatr Nephrol; 2017 Oct; 32(10):1989-1992. PubMed ID: 28620746 [TBL] [Abstract][Full Text] [Related]
17. Adult phenotype and further phenotypic variability in SRD5A3-CDG. Kara B; Ayhan Ö; Gökçay G; Başboğaoğlu N; Tolun A BMC Med Genet; 2014 Jan; 15():10. PubMed ID: 24433453 [TBL] [Abstract][Full Text] [Related]
18. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with Motta FL; Filippelli-Silva R; Kitajima JP; Batista DA; Wohler ES; Sobreira NL; Martin RP; Ferraz Sallum JM Ophthalmic Genet; 2021 Oct; 42(5):553-560. PubMed ID: 34157943 [No Abstract] [Full Text] [Related]
19. Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Stevenson DA; Brothman AR; Chen Z; Bayrak-Toydemir P; Longo N Am J Med Genet A; 2004 Sep; 130A(1):88-91. PubMed ID: 15368501 [TBL] [Abstract][Full Text] [Related]
20. SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm. Kasapkara CS; Olgac A; Derinkuyu BE; Oztoprak U; Jaeken J J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS221-SS226. PubMed ID: 36597345 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]