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Items: 1 to 20 of 84

1.

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

West B, Bove KE, Slavotinek AM.

Am J Med Genet A. 2009 Mar;149A(3):539-42. doi: 10.1002/ajmg.a.32682. No abstract available.

2.

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Steiner RD, St J Dignan P, Hopkin RJ, Kozielski R, Bove KE.

Am J Med Genet. 2002 Feb 15;108(1):45-50.

PMID:
11857549
3.

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
4.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium.

Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. Epub 2015 Sep 16.

PMID:
26373900
5.

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
6.

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. Epub 2012 Jul 4.

PMID:
22686418
7.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.

8.

Congenital bilateral eventration of the diaphragm in a pair of male twins.

Elberg JJ, Brok KE, Pedersen SA, Kock KE.

J Pediatr Surg. 1989 Nov;24(11):1140-1.

PMID:
2809986
9.

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang TY, Tran-Viet KN, Young TL.

Mol Vis. 2008;14:2458-65. Epub 2008 Dec 26.

10.
11.

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
12.

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. Epub 2009 Feb 28.

PMID:
19254784
13.

Familial occurrence of diaphragmatic anomalies.

Varpela E, Lehtovaara R.

Ann Chir Gynaecol Fenn. 1969;58(1):62-4. No abstract available.

PMID:
5367298
14.

Eye development genes and known syndromes.

Slavotinek AM.

Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29. Review.

15.

Waardenburg's recessive anophthalmia syndrome.

Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM.

Ophthalmic Paediatr Genet. 1984 Apr;4(1):13-8.

PMID:
6549566
16.

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns JP, Tükün A.

Genet Couns. 2005;16(2):145-8.

PMID:
16080293
17.

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.

Aughton DJ.

Am J Med Genet. 1990 Oct;37(2):178-81. No abstract available.

PMID:
2248283
18.

Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?

Devriendt K, Naulaers G, Matthijs G, Van Houdt K, Devlieger H, Gewillig M, Fryns JP.

Ann Genet. 1997;40(1):14-7.

PMID:
9150845
19.

[Congenital anophthalmias: a case of trisomy 13].

Kouassi FX, Koffi KV, Safede K, Cochard C, Cochener B.

J Fr Ophtalmol. 2006 Apr;29(4):e10. French.

20.

An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.

Ceylaner S, Gozer HE, Ceylaner G, Ertas IE, Kizilates SU, Edguer T.

Genet Couns. 2006;17(2):231-6.

PMID:
16970042

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