172 related articles for article (PubMed ID: 18831064)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. A novel deletion mutation of the
Zhang Y; Zhang X; Long R; Yu L
J Genet; 2018 Sep; 97(4):1007-1011. PubMed ID: 30262714
[TBL] [Abstract][Full Text] [Related]
8. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
Macchiaroli A; Kelberman D; Auriemma RS; Drury S; Islam L; Giangiobbe S; Ironi G; Lench N; Sowden JC; Colao A; Pivonello R; Cavallo L; Gasperi M; Faienza MF
Gene; 2014 Jan; 534(2):282-5. PubMed ID: 24211324
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
Nikuei P; Ph D ; Khashavy Z; Ali Farazi Fard M; Tabasi S; Zeidi B Sc Student A; Pourkashani P; Tabatabaei Z; Eftekhar E; Saberi M; Mahjoubi F
Int J Reprod Biomed; 2023 Aug; 21(8):667-672. PubMed ID: 37885978
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. 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]
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. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
Stark Z; Storen R; Bennetts B; Savarirayan R; Jamieson RV
Eur J Hum Genet; 2011 Jul; 19(7):753-6. PubMed ID: 21326281
[TBL] [Abstract][Full Text] [Related]
15. Parent-of-origin effects in SOX2 anophthalmia syndrome.
Osborne RJ; Kurinczuk JJ; Ragge NK
Mol Vis; 2011; 17():3097-106. PubMed ID: 22171155
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.
Kidd J; Patberg E; McGath M; Monteleone B; Chavez M
Prenat Diagn; 2023 Aug; 43(9):1251-1254. PubMed ID: 37529968
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutations in SOX2 cause anophthalmia.
Fantes J; Ragge NK; Lynch SA; McGill NI; Collin JR; Howard-Peebles PN; Hayward C; Vivian AJ; Williamson K; van Heyningen V; FitzPatrick DR
Nat Genet; 2003 Apr; 33(4):461-3. PubMed ID: 12612584
[TBL] [Abstract][Full Text] [Related]
19. Novel SOX2 partner-factor domain mutation in a four-generation family.
Mihelec M; Abraham P; Gibson K; Krowka R; Susman R; Storen R; Chen Y; Donald J; Tam PP; Grigg JR; Flaherty M; Gole GA; Jamieson RV
Eur J Hum Genet; 2009 Nov; 17(11):1417-22. PubMed ID: 19471311
[TBL] [Abstract][Full Text] [Related]
20. SOX2 anophthalmia syndrome and dental anomalies.
Chacon-Camacho OF; Fuerte-Flores BI; Ricardez-Marcial EF; Zenteno JC
Am J Med Genet A; 2015 Nov; 167A(11):2830-3. PubMed ID: 26250054
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]