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Journal Abstract Search

124 related items for PubMed ID: 31696509

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  • 24. 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
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  • 26. A case of hypotrichosis with juvenile macular dystrophy.
    Mason JO, Patel SA.
    Retin Cases Brief Rep; 2015 Jan; 9(2):164-7. PubMed ID: 25621871
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  • 27. 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
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  • 29. Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.
    Chatterjee S, Gupta S, Chaudhry VN, Chaudhry P, Mukherjee A, Mutsuddi M.
    Gene; 2022 Mar 30; 816():146158. PubMed ID: 34990796
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  • 30. 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 30; 32(2):191-6. PubMed ID: 17342797
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  • 32. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
    Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J.
    Ophthalmic Genet; 1995 Mar 30; 16(1):11-5. PubMed ID: 7648037
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  • 34. Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.
    Leibu R, Jermans A, Hatim G, Miller B, Sprecher E, Perlman I.
    Ophthalmology; 2006 May 30; 113(5):841-7.e3. PubMed ID: 16650681
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  • 36. Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.
    Zhang J, Qi A, Wang X, Pan H, Mo H, Huang J, Li H, Chen Z, Wei M, Wang B.
    Mol Vis; 2016 May 30; 22():1514-1521. PubMed ID: 28050124
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  • 38. Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.
    Zhou Y, Tao S, Chen H, Huang L, Zhu X, Li Y, Wang Z, Lin H, Hao F, Yang Z, Wang L, Zhu X.
    PLoS One; 2014 May 30; 9(3):e91962. PubMed ID: 24632595
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  • 39. Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
    Liu X, Meng X, Yang L, Long Y, Fujinami-Yokokawa Y, Ren J, Kurihara T, Tsubota K, Tsunoda K, Fujinami K, Li S, East Asia Inherited Retinal Disease Society Study Group.
    Am J Med Genet C Semin Med Genet; 2020 Sep 30; 184(3):694-707. PubMed ID: 32845068
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  • 40. Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.
    Xiang Q, Cao Y, Xu H, Guo Y, Yang Z, Xu L, Yuan L, Deng H.
    Biosci Rep; 2019 Jan 31; 39(1):. PubMed ID: 30563929
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