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Journal Abstract Search

183 related items for PubMed ID: 33111437

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  • 3. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    Ng D, Hadley DW, Tifft CJ, Biesecker LG.
    Am J Med Genet; 2002 Jul 15; 110(4):308-14. PubMed ID: 12116202
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  • 4. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
    Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.
    Eur J Hum Genet; 2009 Oct 15; 17(10):1207-15. PubMed ID: 19277062
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  • 6. 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 15; 26(1):e3601. PubMed ID: 37758467
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  • 7. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
    Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.
    Eur J Hum Genet; 2016 Apr 15; 24(4):535-41. PubMed ID: 26130484
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  • 9. 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 15; 86(5):475-81. PubMed ID: 24628545
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  • 10. 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 15; 5(6):709-719. PubMed ID: 29178648
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  • 11. Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
    Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C.
    Am J Med Genet A; 2018 Dec 15; 176(12):2872-2876. PubMed ID: 30450806
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  • 14. 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 15; 63(11):1169-1180. PubMed ID: 30181649
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  • 17. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
    Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.
    Am J Hum Genet; 2013 Feb 07; 92(2):265-70. PubMed ID: 23312594
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  • 19. A family with microphthalmia, anophthalmia and concomitant oligophrenia.
    Bianchine JW.
    Birth Defects Orig Artic Ser; 1971 Mar 07; 7(3):205-6. PubMed ID: 5173148
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  • 20. NAA10 polyadenylation signal variants cause syndromic microphthalmia.
    Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.
    J Med Genet; 2019 Jul 07; 56(7):444-452. PubMed ID: 30842225
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