BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 33111437)

  • 1. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
    Wawrocka A; Walczak-Sztulpa J; Pawlak M; Gotz-Wieckowska A; Krawczynski MR
    Am J Med Genet A; 2021 Jan; 185(1):250-255. PubMed ID: 33111437
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 19(1):160. PubMed ID: 30200890
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 110(4):308-14. PubMed ID: 12116202
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 17(10):1207-15. PubMed ID: 19277062
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
    Brady PD; Van Esch H; Fieremans N; Froyen G; Slavotinek A; Deprest J; Devriendt K; Vermeesch JR
    Eur J Hum Genet; 2015 Apr; 23(4):551-4. PubMed ID: 25026905
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 26(1):e3601. PubMed ID: 37758467
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 24(4):535-41. PubMed ID: 26130484
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 84(5):473-81. PubMed ID: 23701296
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 86(5):475-81. PubMed ID: 24628545
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 5(6):709-719. PubMed ID: 29178648
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 176(12):2872-2876. PubMed ID: 30450806
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
    Islam F; Htun S; Lai LW; Krall M; Poranki M; Martin PM; Sobreira N; Wohler ES; Yu J; Moore AT; Slavotinek AM
    Clin Genet; 2020 Nov; 98(5):499-506. PubMed ID: 32799327
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.
    Sun H; Yu S; Zhou X; Han L; Zhang H; He Y
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1377. PubMed ID: 32597569
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 63(11):1169-1180. PubMed ID: 30181649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG; Rajkumar S; Vasavada AR
    Ophthalmic Genet; 2018 Jun; 39(3):344-352. PubMed ID: 29461140
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 92(2):265-70. PubMed ID: 23312594
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N; Causse A; Vigouroux A; Delahaye A; Alessandri JL; Boespflug-Tanguy O; Boute-Benejean O; Dollfus H; Duban-Bedu B; Gilbert-Dussardier B; Giuliano F; Gonzales M; Holder-Espinasse M; Isidor B; Jacquemont ML; Lacombe D; Martin-Coignard D; Mathieu-Dramard M; Odent S; Picone O; Pinson L; Quelin C; Sigaudy S; Toutain A; Thauvin-Robinet C; Kaplan J; Calvas P
    Clin Genet; 2014 Oct; 86(4):326-34. PubMed ID: 24033328
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A family with microphthalmia, anophthalmia and concomitant oligophrenia.
    Bianchine JW
    Birth Defects Orig Artic Ser; 1971 Mar; 7(3):205-6. PubMed ID: 5173148
    [No Abstract]   [Full Text] [Related]  

  • 20. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
    Marcadier JL; Mears AJ; Woods EA; Fisher J; Airheart C; Qin W; Beaulieu CL; Dyment DA; Innes AM; Curry CJ;
    Am J Med Genet A; 2016 Jan; 170A(1):11-8. PubMed ID: 26373900
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.