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Journal Abstract Search

124 related items for PubMed ID: 31696509

  • 41. 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; 42(4):292-8. PubMed ID: 15805154
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  • 42. Multimodal Imaging in Hypotrichosis with Juvenile Macular Degeneration.
    Marques JP, Geada S.
    Ophthalmol Retina; 2021 Jun; 5(6):593. PubMed ID: 34099227
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  • 45. Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy).
    Marren P, Wilson C, Dawber RP, Walshe MM.
    Clin Exp Dermatol; 1992 May; 17(3):189-91. PubMed ID: 1451298
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  • 47. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
    Qu LH, Jin X, Zeng C, Zhou NG, Liu YH, Lin Y.
    Biosci Rep; 2021 Jun 25; 41(6):. PubMed ID: 33988224
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  • 48. Macular dystrophy and hypotrichosis: the EEM-Albrectsen syndrome.
    Warburg M.
    Ophthalmic Genet; 1995 Dec 25; 16(4):177-8. PubMed ID: 8749055
    [No Abstract] [Full Text] [Related]

  • 49. Hypotrichosis with juvenile macular dystrophy: Portuguese case.
    Elfatoiki FZ, Cordoliani F, Pascal Regane P, Afforitit-Demoge A.
    Dermatol Online J; 2016 May 15; 22(5):. PubMed ID: 27617529
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  • 50. 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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  • 53. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
    El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M.
    Am J Hum Genet; 2015 Jun 04; 96(6):948-54. PubMed ID: 25983245
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  • 54. Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
    Bardak H, Gunay M, Erçalık Y, Bardak Y, Ozbas H, Bagci O, Ayata A, Sönmez M, Alagöz C.
    Genet Mol Res; 2016 Oct 24; 15(4):. PubMed ID: 27813578
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  • 55. Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
    Zolnikova IV, Strelnikov VV, Skvortsova NA, Tanas AS, Barh D, Rogatina EV, Egorova IV, Levina DV, Demenkova ON, Prikaziuk EG, Ivanova ME.
    Eur J Med Genet; 2017 Feb 24; 60(2):140-147. PubMed ID: 27939946
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  • 57. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
    Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB.
    Ophthalmology; 2015 Jan 24; 122(1):170-9. PubMed ID: 25227500
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  • 59. Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.
    Wang Y, Wang P, Li S, Ouyang J, Jia X, Xiao X, Yang J, Li X, Sun W, Zhang Q.
    Invest Ophthalmol Vis Sci; 2021 May 03; 62(6):19. PubMed ID: 34008001
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  • 60. Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
    Hua S, Ding Y, Zhang J, Qian Q, Li M.
    J Dermatol; 2021 Mar 03; 48(3):408-412. PubMed ID: 33222230
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