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Items: 1 to 20 of 134

1.

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
2.

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
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.

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
5.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA.

Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25.

PMID:
24568872
6.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S.

Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.

7.

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. Epub 2012 Jun 2.

8.

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.

9.

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.

10.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL.

Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

11.

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N.

Mol Vis. 2010 Dec 18;16:2847-9.

12.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC.

Am J Hum Genet. 2007 Jun;80(6):1179-87. Epub 2007 Apr 11.

13.

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
14.

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
15.

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

Gallardo ME, Rodríguez De Córdoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P.

Am J Med Genet A. 2004 Aug 15;129A(1):92-4. No abstract available.

PMID:
15266624
16.

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Watson G, Schneider A, Mackey DA, Grigg JR, Zenker M, Jamieson RV.

Clin Genet. 2013 Feb;83(2):162-8. doi: 10.1111/j.1399-0004.2012.01851.x. Epub 2012 Feb 20.

PMID:
22283518
17.

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.

18.

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. Epub 2014 Jun 3.

PMID:
24777706
19.

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
20.

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV.

Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28.

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