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Journal Abstract Search

154 related items for PubMed ID: 28380103

  • 1. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Vicente LP, Finzi S, Susanna R, Young TL.
    Arq Bras Oftalmol; 2017; 80(1):49-51. PubMed ID: 28380103
    [Abstract] [Full Text] [Related]

  • 2. 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; 119(5):1210-3. PubMed ID: 12445216
    [Abstract] [Full Text] [Related]

  • 3. Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
    Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO, Ramon M, Ganthos H, Miller B, Richard G, Lurie R, Leibu R, Russell-Eggitt I, Sprecher E.
    J Invest Dermatol; 2003 Nov; 121(5):1217-20. PubMed ID: 14708629
    [Abstract] [Full Text] [Related]

  • 4. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
    Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R.
    Nat Genet; 2001 Oct; 29(2):134-6. PubMed ID: 11544476
    [Abstract] [Full Text] [Related]

  • 5. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
    Shimomura Y, Wajid M, Kurban M, Christiano AM.
    Dermatology; 2010 Oct; 220(3):208-12. PubMed ID: 20203473
    [Abstract] [Full Text] [Related]

  • 6. 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; 34(1):68-73. PubMed ID: 19076794
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
    Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL, Sprecher E.
    Clin Exp Dermatol; 2007 Mar 07; 32(2):191-6. PubMed ID: 17342797
    [Abstract] [Full Text] [Related]

  • 10. 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 07; 302(9):701-3. PubMed ID: 20140736
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 43(3):420-424. PubMed ID: 35038959
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
    Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T.
    J Med Genet; 2005 Apr 01; 42(4):292-8. PubMed ID: 15805154
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
    Khan AO, Bolz HJ.
    Ophthalmic Genet; 2016 Sep 01; 37(3):301-6. PubMed ID: 26885695
    [Abstract] [Full Text] [Related]

  • 15. Histopathology of hypotrichosis with juvenile macular dystrophy.
    Bergman R, Sapir M, Sprecher E.
    Am J Dermatopathol; 2004 Jun 01; 26(3):205-9. PubMed ID: 15166507
    [Abstract] [Full Text] [Related]

  • 16. Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation.
    Rishi E, Goel S, Bassi S, Rishi P.
    Nepal J Ophthalmol; 2022 Jan 01; 14(27):168-172. PubMed ID: 35996915
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 9(6):e1688. PubMed ID: 33837674
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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 23; 51(3):325-7. PubMed ID: 22348569
    [No Abstract] [Full Text] [Related]

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