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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. Chitayat D, et al. Among authors: toi a. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106
Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?
Chitayat D, Moore L, Del Bigio MR, MacGregor D, Ben-Zeev B, Hodgkinson K, Deck J, Stothers T, Ritchie S, Toi A. Chitayat D, et al. Among authors: toi a. Am J Med Genet. 1994 Oct 1;52(4):406-15. doi: 10.1002/ajmg.1320520404. Am J Med Genet. 1994. PMID: 7538262
Trisomy 4 in a fetus with cyclopia and other anomalies.
Van Allen MI, Ritchie S, Toi A, Fong K, Winsor E. Van Allen MI, et al. Among authors: toi a. Am J Med Genet. 1993 Apr 15;46(2):193-7. doi: 10.1002/ajmg.1320460219. Am J Med Genet. 1993. PMID: 8484409
Omphalocele in Miller-Dieker syndrome: expanding the phenotype.
Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson JA, Vasjar J, Teshima I. Chitayat D, et al. Among authors: toi a. Am J Med Genet. 1997 Mar 31;69(3):293-8. doi: 10.1002/(sici)1096-8628(19970331)69:3<293::aid-ajmg15>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9096760
214 results