219 related articles for article (PubMed ID: 31884615)
1. 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]
2. 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]
3. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
Ammar THA; Ismail S; Mansour OAA; El-Shafey MM; Doghish AS; Kamal AM; Abdel-Salam GMH
Ophthalmic Genet; 2017; 38(5):498-500. PubMed ID: 28121235
[No Abstract] [Full Text] [Related]
4. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL; Flannick J; Yahyavi M; Li J; Bardakjian T; Tonkin L; Schneider A; Sherr EH; Slavotinek AM
BMC Med Genet; 2011 Dec; 12():172. PubMed ID: 22204637
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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; 26(1):e3601. PubMed ID: 37758467
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.
Chassaing N; Vigouroux A; Calvas P
Genet Test Mol Biomarkers; 2009 Jun; 13(3):289-90. PubMed ID: 19397404
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. The genetics of anophthalmia and microphthalmia.
Bardakjian TM; Schneider A
Curr Opin Ophthalmol; 2011 Sep; 22(5):309-13. PubMed ID: 21825993
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. VSX2 mutations in autosomal recessive microphthalmia.
Reis LM; Khan A; Kariminejad A; Ebadi F; Tyler RC; Semina EV
Mol Vis; 2011; 17():2527-32. PubMed ID: 21976963
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Mauri L; Franzoni A; Scarcello M; Sala S; Garavelli L; Modugno A; Grammatico P; Patrosso MC; Piozzi E; Del Longo A; Gesu GP; Manfredini E; Primignani P; Damante G; Penco S
Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
Desmaison A; Vigouroux A; Rieubland C; Peres C; Calvas P; Chassaing N
Mol Vis; 2010 Dec; 16():2847-9. PubMed ID: 21203406
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]