209 related articles for article (PubMed ID: 36737727)
1. Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Chee JM; Lanoue L; Clary D; Higgins K; Bower L; Flenniken A; Guo R; Adams DJ; Bosch F; Braun RE; Brown SDM; Chin HG; Dickinson ME; Hsu CW; Dobbie M; Gao X; Galande S; Grobler A; Heaney JD; Herault Y; de Angelis MH; Mammano F; Nutter LMJ; Parkinson H; Qin C; Shiroishi T; Sedlacek R; Seong JK; Xu Y; ; Brooks B; McKerlie C; Lloyd KCK; Westerberg H; Moshiri A
BMC Biol; 2023 Feb; 21(1):22. PubMed ID: 36737727
[TBL] [Abstract][Full Text] [Related]
2. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J; Pelcastre EL; Tovilla-Canales JL; Garcia-Ortiz JE; Amato-Almanza M; Villanueva-Mendoza C; Espinosa-Mattar Z; Zenteno JC
Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
[TBL] [Abstract][Full Text] [Related]
3. The genetic architecture of microphthalmia, anophthalmia and coloboma.
Williamson KA; FitzPatrick DR
Eur J Med Genet; 2014 Aug; 57(8):369-80. PubMed ID: 24859618
[TBL] [Abstract][Full Text] [Related]
4. Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
Harding P; Gore S; Malka S; Rajkumar J; Oluonye N; Moosajee M
Br J Ophthalmol; 2023 Nov; 107(12):1925-1935. PubMed ID: 36192130
[TBL] [Abstract][Full Text] [Related]
5. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Reis LM; Semina EV
Birth Defects Res C Embryo Today; 2015 Jun; 105(2):96-113. PubMed ID: 26046913
[TBL] [Abstract][Full Text] [Related]
6. Congenital eye anomalies: More mosaic than thought?
Ohuchi H; Sato K; Habuta M; Fujita H; Bando T
Congenit Anom (Kyoto); 2019 May; 59(3):56-73. PubMed ID: 30039880
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.
Dash S; Brastrom LK; Patel SD; Scott CA; Slusarski DC; Lachke SA
Hum Mol Genet; 2020 Mar; 29(4):591-604. PubMed ID: 31814023
[TBL] [Abstract][Full Text] [Related]
11. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A; Bakrania P; Bunyan DJ; Osborne RJ; Crolla JA; Salt A; Ayuso C; Newbury-Ecob R; Abou-Rayyah Y; Collin JR; Robinson D; Ragge N
Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
[TBL] [Abstract][Full Text] [Related]
12. Genes relacionados con microftalmia y anoftalmia hereditarias.
Matías-Pérez D; García-Montalvo IA; Zenteno JC
Gac Med Mex; 2017; 153(7):824-829. PubMed ID: 29414965
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
Leung KCP; Ko TCS
Ophthalmic Genet; 2020 Aug; 41(4):373-376. PubMed ID: 32506980
[TBL] [Abstract][Full Text] [Related]
16. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Casey J; Kawaguchi R; Morrissey M; Sun H; McGettigan P; Nielsen JE; Conroy J; Regan R; Kenny E; Cormican P; Morris DW; Tormey P; Chróinín MN; Kennedy BN; Lynch S; Green A; Ennis S
Hum Mutat; 2011 Dec; 32(12):1417-26. PubMed ID: 21901792
[TBL] [Abstract][Full Text] [Related]
17. Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.
Trejo-Reveles V; Owen N; Ching Chan BH; Toms M; Schoenebeck JJ; Moosajee M; Rainger J;
Biomolecules; 2023 Feb; 13(2):. PubMed ID: 36830662
[TBL] [Abstract][Full Text] [Related]
18. Eye development genes and known syndromes.
Slavotinek AM
Mol Genet Metab; 2011 Dec; 104(4):448-56. PubMed ID: 22005280
[TBL] [Abstract][Full Text] [Related]
19. A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
Chao R; Nevin L; Agarwal P; Riemer J; Bai X; Delaney A; Akana M; JimenezLopez N; Bardakjian T; Schneider A; Chassaing N; Schorderet DF; FitzPatrick D; Kwok PY; Ellgaard L; Gould DB; Zhang Y; Malicki J; Baier H; Slavotinek A
PLoS One; 2010 May; 5(5):e10565. PubMed ID: 20485507
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
