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Results: 1 to 20 of 203

1.

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
[PubMed - indexed for MEDLINE]
2.

Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

Seller MJ, Davis TB, Fear CN, Flinter FA, Ellis I, Gibson AG.

Am J Med Genet. 1996 Mar 29;62(3):227-29.

PMID:
8882778
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

Zenteno JC, Perez-Cano HJ, Aguinaga M.

Am J Med Genet A. 2006 Sep 15;140(18):1899-903.

PMID:
16892407
[PubMed - indexed for MEDLINE]
6.

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P.

Am J Med Genet A. 2007 Jun 15;143A(12):1268-81.

PMID:
17506106
[PubMed - indexed for MEDLINE]
7.

Newborn with anophthalmia and features of Fryns syndrome.

Pierson DM, Subtil A, Taboada E, Butler MG.

Pediatr Dev Pathol. 2002 Nov-Dec;5(6):592-6. Epub 2002 Oct 14.

PMID:
12375132
[PubMed - indexed for MEDLINE]
8.

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen Vv, Fitzpatrick DR.

Am J Med Genet A. 2006 Mar 15;140(6):636-9. No abstract available.

PMID:
16470798
[PubMed - indexed for MEDLINE]
9.

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. Epub 2003 Mar 3.

PMID:
12612584
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P.

Hum Mutat. 2009 May;30(5):E673-81. doi: 10.1002/humu.21023.

PMID:
19309693
[PubMed - indexed for MEDLINE]
12.

Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

Wang J, Steelman CK, Vincent R, Richburg D, Chang TS, Shehata BM.

Fetal Pediatr Pathol. 2010;29(5):291-8. doi: 10.3109/15513811003796953.

PMID:
20704474
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
17522144
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Anophthalmia and microphthalmia.

Verma AS, Fitzpatrick DR.

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

PMID:
18039390
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS.

Am J Med Genet A. 2009 Nov;149A(11):2457-63. doi: 10.1002/ajmg.a.33038.

PMID:
19839040
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

Slavotinek A, Lee SS, Hamilton SP.

Am J Med Genet A. 2005 Oct 1;138A(2):89-94. Review.

PMID:
16114045
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
Free Article
20.

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T.

Eur J Endocrinol. 2007 Feb;156(2):167-71.

PMID:
17287405
[PubMed - indexed for MEDLINE]
Free Article

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