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Items: 1 to 20 of 618

1.

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
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.

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A.

Am J Med Genet A. 2007 Feb 1;143A(3):219-28.

PMID:
17236193
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.

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
6.

Pulmonary and diaphragmatic agenesis: report of affected sibs.

Toriello HV, Higgins JV, Jones AS, Radecki LL.

Am J Med Genet. 1985 May;21(1):87-92.

PMID:
4003451
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
8.

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
9.

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Ng D, Hadley DW, Tifft CJ, Biesecker LG.

Am J Med Genet. 2002 Jul 15;110(4):308-14.

PMID:
12116202
10.

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Digilio MC, Marino B, Giannotti A, Dallapiccola B.

J Med Genet. 1997 Nov;34(11):927-9.

11.

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Sadowski S, Chassaing N, Gaj Z, Czichos E, Wilczynski J, Nowakowska D.

Birth Defects Res. 2017 Mar 1;109(4):251-253. doi: 10.1002/bdra.23465.

PMID:
28398665
12.

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
14.

Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.

Gibbs DL, Rice HE, Farrell JA, Adzick NS, Harrison MR.

J Pediatr Surg. 1997 Feb;32(2):366-8.

PMID:
9044155
15.

Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case.

Priolo M, Casile G, Laganà C.

Clin Dysmorphol. 2004 Jan;13(1):45-6.

PMID:
15127767
16.

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
17.

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.

Richieri-Costa A, Gollop TR, Otto PG.

Am J Med Genet. 1983 Apr;14(4):607-15.

PMID:
6846395
18.

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
19.

Fryns syndrome without diaphragmatic hernia?

Willems PJ, Keersmaekers GH, Dom KE, Colpaert C, Schatteman E, Vergote IB, Dumon JE.

Am J Med Genet. 1991 Nov 1;41(2):255-7. Review.

PMID:
1785645
20.

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

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