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Items: 1 to 20 of 168

1.
2.

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. Epub 2007 May 23.

3.

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P.

Am J Med Genet A. 2007 Feb 1;143A(3):289-91. No abstract available.

PMID:
17219395
4.

Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia.

Bonneau D, Guichet A, Boussion F, Lépinard C, Biquard F, Descamps P.

Am J Med Genet A. 2004 Dec 1;131(2):204. No abstract available.

PMID:
15487011
5.

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL.

Clin Genet. 2005 Dec;68(6):564-6. No abstract available.

PMID:
16283891
6.

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

Guichet A, Triau S, Lépinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D.

Prenat Diagn. 2004 Oct;24(10):828-32.

PMID:
15503273
7.

Association of anophthalmia and esophageal atresia.

Sandler D, Mancuso A, Becker T, Zori R, Hellrung J, Silverstein J, Burton V, Hamosh A, Williams C.

Am J Med Genet. 1995 Dec 4;59(4):484-91.

PMID:
8585569
8.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR.

Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030.

PMID:
16543359
9.

Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.

Shah D, Jones R, Porter H, Turnpenny P.

Am J Med Genet. 1997 May 16;70(2):171-3. Review.

PMID:
9128938
10.

A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

Li L, Wei J.

Am J Med Genet A. 2006 Jul 15;140(14):1564-6.

PMID:
16761298
11.

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 15;135(1):1-7; discussion 8.

PMID:
15812812
12.

Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?

Arroyo I, García MJ, Cimadevilla CE, Carretero V, Bermejo E, Martínez-Frías ML.

Am J Med Genet. 1992 Jul 1;43(4):686-7.

PMID:
1352427
13.

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

Numakura C, Kitanaka S, Kato M, Ishikawa S, Hamamoto Y, Katsushima Y, Kimura T, Hayasaka K.

Am J Med Genet A. 2010 Sep;152A(9):2355-9. doi: 10.1002/ajmg.a.33556.

PMID:
20803647
14.

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI.

Am J Med Genet A. 2005 Oct 1;138A(2):95-8.

PMID:
16145681
15.

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.

16.

Anophthalmia and microphthalmia.

Verma AS, Fitzpatrick DR.

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

17.

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. Epub 2015 Aug 6.

PMID:
26250054
18.
19.

[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
20.

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. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21.

PMID:
20494911

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