|1.||Slavotinek, Anne M: 3 articles (08/2014 - 12/2011)|
|2.||Golzio, Christelle: 3 articles (05/2009 - 02/2007)|
|3.||Martinovic-Bouriel, Jelena: 3 articles (05/2009 - 02/2007)|
|4.||Manouvrier-Hanu, Sylvie: 2 articles (05/2009 - 06/2007)|
|5.||Attié-Bitach, Tania: 2 articles (05/2009 - 02/2007)|
|6.||Etchevers, Heather C: 2 articles (05/2009 - 06/2007)|
|7.||Vekemans, Michel: 2 articles (06/2007 - 02/2007)|
|8.||Xiao, Tong: 1 article (08/2013)|
|9.||Baier, Herwig: 1 article (08/2013)|
|10.||Bardakjian, Tanya: 1 article (08/2013)|
05/01/2009 - "Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia."
07/15/2006 - "A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)."
03/29/1996 - "Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)."
01/01/2010 - "Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. "
05/01/2009 - "We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. "
02/01/2007 - "This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). "
06/15/2007 - "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."
08/15/2013 - "Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. "
12/01/2011 - "This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. "
06/01/2007 - "Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. "
08/01/2014 - "This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister-Killian syndrome), together with some of the syndromes in which CDH is a relatively common feature, including Fryns syndrome, Matthew-Wood syndrome, overgrowth syndromes and Donnai-Barrow syndrome. "
|2.||Vitamin A (Retinol)
|3.||Pallister Killian syndrome
|7.||Familial duodenal atresia