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Items: 1 to 20 of 110

1.

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 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007.

PMID:
19254784
2.

[SOX2 defect and anophthalmia and microphthalmia].

Ye FX, Fan XQ.

Zhonghua Yan Ke Za Zhi. 2012 Nov;48(11):1049-52. Review. Chinese.

PMID:
23302280
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. doi: 10.1002/ajmg.a.33098. Erratum in: Am J Med Genet A. 2012 Jan;158A(1):267.

4.

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. doi: 10.1038/ejhg.2011.11.

5.
6.

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.

7.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF.

Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580.

PMID:
24777706
8.

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 1;146A(21):2794-8. doi: 10.1002/ajmg.a.32384.

9.

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. doi: 10.1111/cge.12202.

10.

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 24;14:583-92.

11.

Anophthalmia and microphthalmia.

Verma AS, Fitzpatrick DR.

Orphanet J Rare Dis. 2007 Nov 26;2:47. Review.

12.

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 28;12:172. doi: 10.1186/1471-2350-12-172.

13.

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.

Chassaing N, Ragge N, Kariminejad A, Buffet A, Ghaderi-Sohi S, Martinovic J, Calvas P.

Clin Genet. 2013 Mar;83(3):244-50. doi: 10.1111/j.1399-0004.2012.01904.x.

PMID:
22686418
14.

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. doi: 10.1111/cge.12275.

PMID:
24033328
15.

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 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043.

PMID:
24211324
16.

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. doi: 10.1016/j.ejmg.2014.12.005.

PMID:
25542770
17.

RAX and anophthalmia in humans: evidence of brain anomalies.

Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF.

Mol Vis. 2012;18:1449-56.

18.

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. doi: 10.1002/ajmg.a.37277.

PMID:
26250054
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. doi: 10.1038/ejhg.2009.79.

20.

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.

Clin Genet. 2007 Aug;72(2):164-6. No abstract available.

PMID:
17661825

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