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183 related items for PubMed ID: 35205402

  • 1. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
    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 16; 13(2):. PubMed ID: 35205402
    [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, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.
    JAMA Ophthalmol; 2017 Apr 01; 135(4):339-347. PubMed ID: 28253385
    [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 01; 39(5):628-630. PubMed ID: 30019980
    [Abstract] [Full Text] [Related]

  • 4. RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.
    Bedoukian EC, O'Neil EC, Aleman TS.
    Ophthalmic Genet; 2022 Aug 01; 43(4):555-560. PubMed ID: 35484846
    [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 01; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 6. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Jun 01; 26():423-433. PubMed ID: 32565670
    [Abstract] [Full Text] [Related]

  • 7. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Mol Vis; 2018 Jun 01; 24():478-484. PubMed ID: 30090012
    [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 01; 65(5):104492. PubMed ID: 35339718
    [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 01; 70(1):224-9. PubMed ID: 11727200
    [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 01; 170(12):3165-3171. PubMed ID: 27480077
    [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 01; 64(4):346-350. PubMed ID: 32193659
    [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 01; 185(4):1081-1090. PubMed ID: 33403770
    [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 Apr 01; 65(3):134-141. PubMed ID: 31638560
    [Abstract] [Full Text] [Related]

  • 14. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
    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 02; 23(13):. PubMed ID: 35806387
    [Abstract] [Full Text] [Related]

  • 15. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
    Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, Futami T, Kondo H, Hosono K, Kurata K, Hotta Y, Yoshitake K, Iwata T, Matsuura T, Nakano T.
    J Clin Med; 2021 May 24; 10(11):. PubMed ID: 34073704
    [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 24; 32(10):1989-1992. PubMed ID: 28620746
    [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 16; 15():10. PubMed ID: 24433453
    [Abstract] [Full Text] [Related]

  • 18. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
    Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM.
    Ophthalmic Genet; 2021 Oct 16; 42(5):553-560. PubMed ID: 34157943
    [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 15; 130A(1):88-91. PubMed ID: 15368501
    [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 15; 32(12):SS221-SS226. PubMed ID: 36597345
    [Abstract] [Full Text] [Related]

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