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Journal Abstract Search

530 related items for PubMed ID: 30762128

  • 1. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
    Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK.
    Hum Genet; 2019 Sep; 138(8-9):799-830. PubMed ID: 30762128
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  • 2. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
    Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.
    Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
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  • 3. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
    Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S.
    BMC Med Genet; 2018 Sep 10; 19(1):160. PubMed ID: 30200890
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  • 7. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
    Akbar W, Ullah A, Haider N, Suleman S, Khan FU, Shah AA, Sikandar MA, Basit S, Ahmad W.
    J Gene Med; 2024 Jan 10; 26(1):e3601. PubMed ID: 37758467
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  • 8. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
    Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.
    Clin Genet; 2014 Nov 10; 86(5):475-81. PubMed ID: 24628545
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  • 9. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
    Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC.
    J Hum Genet; 2018 Nov 10; 63(11):1169-1180. PubMed ID: 30181649
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  • 12. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
    Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV.
    Clin Genet; 2013 Nov 10; 84(5):473-81. PubMed ID: 23701296
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  • 15. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
    Riera M, Wert A, Nieto I, Pomares E.
    Mol Genet Genomic Med; 2017 Nov 10; 5(6):709-719. PubMed ID: 29178648
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  • 16. Anophthalmia and microphthalmia.
    Verma AS, Fitzpatrick DR.
    Orphanet J Rare Dis; 2007 Nov 26; 2():47. PubMed ID: 18039390
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  • 17. Congenital eye anomalies: More mosaic than thought?
    Ohuchi H, Sato K, Habuta M, Fujita H, Bando T.
    Congenit Anom (Kyoto); 2019 May 26; 59(3):56-73. PubMed ID: 30039880
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  • 18. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
    Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF.
    Hum Mutat; 2014 Aug 26; 35(8):949-53. PubMed ID: 24777706
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