151 related articles for article (PubMed ID: 37163579)
1. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O; Capasso J; Kopinsky SM; Amlie-Wolf L; Levin AV; Schneider A
Am J Med Genet A; 2023 Aug; 191(8):2198-2203. PubMed ID: 37163579
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A; Bardakjian T; Reis LM; Tyler RC; Semina EV
Am J Med Genet A; 2009 Dec; 149A(12):2706-15. PubMed ID: 19921648
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L; Bardakjian T; Kopinsky SM; Reis LM; Semina EV; Schneider A
Am J Med Genet A; 2022 Jan; 188(1):187-198. PubMed ID: 34562068
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [SOX2 defect and anophthalmia and microphthalmia].
Ye FX; Fan XQ
Zhonghua Yan Ke Za Zhi; 2012 Nov; 48(11):1049-52. PubMed ID: 23302280
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
12. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Blackburn PR; Chacon-Camacho OF; Ortiz-González XR; Reyes M; Lopez-Uriarte GA; Zarei S; Bhoj EJ; Perez-Solorzano S; Vaubel RA; Murphree MI; Nava J; Cortes-Gonzalez V; Parisi JE; Villanueva-Mendoza C; Tirado-Torres IG; Li D; Klee EW; Pichurin PN; Zenteno JC
Am J Med Genet A; 2018 Dec; 176(12):2710-2719. PubMed ID: 30450772
[TBL] [Abstract][Full Text] [Related]
13. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Habibi I; Youssef M; Marzouk E; El Shakankiri N; Gawdat G; El Sada M; F Schorderet D; Abou Zeid H
Adv Exp Med Biol; 2019; 1185():221-226. PubMed ID: 31884615
[TBL] [Abstract][Full Text] [Related]
14. Anophthalmia and microphthalmia.
Verma AS; Fitzpatrick DR
Orphanet J Rare Dis; 2007 Nov; 2():47. PubMed ID: 18039390
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. SOX2 anophthalmia syndrome.
Ragge NK; Lorenz B; Schneider A; Bushby K; de Sanctis L; de Sanctis U; Salt A; Collin JR; Vivian AJ; Free SL; Thompson P; Williamson KA; Sisodiya SM; van Heyningen V; Fitzpatrick DR
Am J Med Genet A; 2005 May; 135(1):1-7; discussion 8. PubMed ID: 15812812
[TBL] [Abstract][Full Text] [Related]
18. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Zhou J; Kherani F; Bardakjian TM; Katowitz J; Hughes N; Schimmenti LA; Schneider A; Young TL
Mol Vis; 2008 Mar; 14():583-92. PubMed ID: 18385794
[TBL] [Abstract][Full Text] [Related]
19. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
Errichiello E; Gorgone C; Giuliano L; Iadarola B; Cosentino E; Rossato M; Kurtas NE; Delledonne M; Mattina T; Zuffardi O
Eur J Med Genet; 2018 Jun; 61(6):335-340. PubMed ID: 29371155
[TBL] [Abstract][Full Text] [Related]
20. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
Schneider A; Bardakjian TM; Zhou J; Hughes N; Keep R; Dorsainville D; Kherani F; Katowitz J; Schimmenti LA; Hummel M; Fitzpatrick DR; Young TL
Am J Med Genet A; 2008 Nov; 146A(21):2794-8. PubMed ID: 18831064
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]