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Journal Abstract Search

124 related items for PubMed ID: 31696509

  • 1. Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.
    Schauren JS, Torres ACMBG, de Almeida RC, Santos PSC, Mulinari-Brenner F, Lima LH, Zago Filho LA, Shiokawa N, Bicalho MDG, Sato MT.
    Clin Genet; 2020 Mar; 97(3):529-531. PubMed ID: 31696509
    [No Abstract] [Full Text] [Related]

  • 2. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
    Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J.
    Mol Genet Genomic Med; 2019 Nov; 7(11):e975. PubMed ID: 31560841
    [Abstract] [Full Text] [Related]

  • 3. A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
    Kamran-ul-Hassan Naqvi S, Azeem Z, Ali G, Ahmad W.
    Arch Dermatol Res; 2010 Nov; 302(9):701-3. PubMed ID: 20140736
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  • 4. The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report.
    Al Zubi K, Mwafi N, Alrawashdeh HM, Al Sarireh F, Somkuwar A, Abdulmannan DM.
    Ophthalmic Genet; 2022 Jun; 43(3):420-424. PubMed ID: 35038959
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  • 5. The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.
    Hayashi T, Katagiri S, Kubota D, Mizobuchi K, Ishiuji Y, Asahina A, Kameya S, Nakano T.
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1688. PubMed ID: 33837674
    [Abstract] [Full Text] [Related]

  • 6. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
    Blanco-Kelly F, Rodrigues-Jacy da Silva L, Sanchez-Navarro I, Riveiro-Alvarez R, Lopez-Martinez MA, Corton M, Ayuso C.
    BMC Med Genet; 2017 Jan 07; 18(1):1. PubMed ID: 28061825
    [Abstract] [Full Text] [Related]

  • 7. Hypotrichosis with juvenile macular dystrophy.
    Oliveira-Ferreira C, Leuzinger-Dias M, Tavares-Ferreira J, Silva SE, Brandão E, Falcão-Reis F, Rocha-Sousa A.
    Ophthalmic Genet; 2019 Dec 07; 40(6):574-577. PubMed ID: 31718366
    [No Abstract] [Full Text] [Related]

  • 8. Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
    Khan AO, Bolz HJ.
    Ophthalmic Genet; 2016 Sep 07; 37(3):301-6. PubMed ID: 26885695
    [Abstract] [Full Text] [Related]

  • 9. Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
    Singh MS, Broadgate S, Mathur R, Holt R, Halford S, MacLaren RE.
    Sci Rep; 2016 May 09; 6():23674. PubMed ID: 27157923
    [Abstract] [Full Text] [Related]

  • 10. Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
    Liu Y, Xu Z, Sun Y, Zhang B, Wang X, Ma L.
    Australas J Dermatol; 2024 Feb 09; 65(1):91-94. PubMed ID: 37850495
    [No Abstract] [Full Text] [Related]

  • 11. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
    Avitan-Hersh E, Indelman M, Khamaysi Z, Leibu R, Bergman R.
    Int J Dermatol; 2012 Mar 09; 51(3):325-7. PubMed ID: 22348569
    [No Abstract] [Full Text] [Related]

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  • 15. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR.
    JAMA Ophthalmol; 2016 Sep 01; 134(9):992-1000. PubMed ID: 27386845
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  • 17. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
    Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E.
    J Invest Dermatol; 2002 Nov 01; 119(5):1210-3. PubMed ID: 12445216
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  • 18. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.
    Ren Y, Liu J, Yao D, Hua H, Guo X, Dai H, Dang N, Huang Y, Yu D.
    Chin Med J (Engl); 2022 Jun 20; 135(12):1503-1505. PubMed ID: 35853629
    [No Abstract] [Full Text] [Related]

  • 19. Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.
    Leal-Rodríguez R, Barragán-Arévalo T, Pérez-Torres A, Giraldo-Gómez DM, Zenteno JC.
    Clin Dysmorphol; 2023 Apr 01; 32(2):62-64. PubMed ID: 36779776
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