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Journal Abstract Search

134 related items for PubMed ID: 27617529

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  • 2. 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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  • 5. Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
    Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E.
    Ophthalmic Res; 2020 Sep 01; 63(2):141-151. PubMed ID: 31927556
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  • 6. A case of hypotrichosis with juvenile macular dystrophy.
    Mason JO, Patel SA.
    Retin Cases Brief Rep; 2015 Sep 01; 9(2):164-7. PubMed ID: 25621871
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  • 9. 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
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  • 10. 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 01; 43(3):420-424. PubMed ID: 35038959
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  • 12. 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
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  • 15. Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
    Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E.
    Doc Ophthalmol; 2019 Apr 01; 138(2):153-160. PubMed ID: 30710256
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  • 16. Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
    Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W.
    Eur J Dermatol; 2016 Dec 01; 26(6):610-612. PubMed ID: 27456782
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  • 17. 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 01; 29(2):134-6. PubMed ID: 11544476
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  • 18. 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 01; 302(9):701-3. PubMed ID: 20140736
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  • 19. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
    Shimomura Y, Wajid M, Kurban M, Christiano AM.
    Dermatology; 2010 Nov 01; 220(3):208-12. PubMed ID: 20203473
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