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Journal Abstract Search

131 related items for PubMed ID: 35038959

  • 1. 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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  • 3. 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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  • 4. 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 01; 7(11):e975. PubMed ID: 31560841
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  • 5. 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
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  • 9. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Vicente LP, Finzi S, Susanna R, Young TL.
    Arq Bras Oftalmol; 2017 Jan 07; 80(1):49-51. PubMed ID: 28380103
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  • 10. Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
    Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E.
    Br J Dermatol; 2005 Sep 07; 153(3):635-8. PubMed ID: 16120155
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  • 13. 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 07; 119(5):1210-3. PubMed ID: 12445216
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  • 15. 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
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  • 16. A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.
    Jelani M, Salman Chishti M, Ahmad W.
    Clin Exp Dermatol; 2009 Jan 09; 34(1):68-73. PubMed ID: 19076794
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  • 18. Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.
    Narayan A, Moosajee M.
    BMJ Case Rep; 2019 Oct 23; 12(10):. PubMed ID: 31645385
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  • 20. 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 23; 97(3):529-531. PubMed ID: 31696509
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