Hoffman JI: Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol. 1995, 16: 103-113. 10.1007/BF00801907.
Article
CAS
PubMed
Google Scholar
Hoffman JI: Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol. 1995, 16: 155-165. 10.1007/BF00801907.
Article
CAS
PubMed
Google Scholar
Samanek M: Congenital heart malformations: prevalence, severity, survival, and quality of life. Cardiol Young. 2000, 10 (3): 179-185.
Article
CAS
PubMed
Google Scholar
Fyler DC, Buckley LP, Hellenbrand WE, et al: Report of the New England regional infant cardiac program. Pediatrics. 1980, 65 (Suppl): 375-461.
Google Scholar
Digilio MC, Casey B, Toscano A, Calabro R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B: Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 2001, 104 (23): 2809-2814.
Article
CAS
PubMed
Google Scholar
Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003, 108 (23): 2843-2850. 10.1161/01.CIR.0000103684.77636.CD.
Article
CAS
PubMed
Google Scholar
Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P: X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet. 2000, 8 (9): 704-708. 10.1038/sj.ejhg.5200526.
Article
CAS
PubMed
Google Scholar
Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000, 26 (3): 365-369. 10.1038/81695.
Article
CAS
PubMed
Google Scholar
Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M: CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet. 2002, 70 (3): 776-780. 10.1086/339079.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B: X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997, 17 (3): 305-308.
Article
CAS
PubMed
Google Scholar
Kirby ML, Gale TF, Stewart DE: Neural crest cells contribute to normal aorticopulmonary septation. Science. 1983, 220 (4601): 1059-1061.
Article
CAS
PubMed
Google Scholar
Creazzo TL, Godt RE, Leatherbury L, Conway SJ, Kirby ML: Role of cardiac neural crest cells in cardiovascular development. Annu Rev Physiol. 1998, 60: 267-286. 10.1146/annurev.physiol.60.1.267.
Article
CAS
PubMed
Google Scholar
Hjalt TA, Semina EV, Amendt BA, Murray JC: The Pitx2 protein in mouse development. Dev Dyn. 2000, 218 (1): 195-200. 10.1002/(SICI)1097-0177(200005)218:1<195::AID-DVDY17>3.0.CO;2-C.
Article
CAS
PubMed
Google Scholar
Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC: Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996, 14 (4): 392-399. 10.1038/ng1296-392.
Article
CAS
PubMed
Google Scholar
Sadeghi-Nejad A, Senior B: Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J Pediatr. 1974, 85 (5): 644-648.
Article
CAS
PubMed
Google Scholar
Brooks JK, Coccaro PJ, Zarbin MA: The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Pathol. 1989, 68 (6): 717-724.
Article
CAS
PubMed
Google Scholar
Gage PJ, Suh H, Camper SA: Dosage requirement of Pitx2 for development of multiple organs. Development. 1999, 126 (20): 4643-4651.
CAS
PubMed
Google Scholar
Kitamura K, Miura H, Miyagawa-Tomita S, Yanazawa M, Katoh-Fukui Y, Suzuki R, Ohuchi H, Suehiro A, Motegi Y, Nakahara Y, Kondo S, Yokoyama M: Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism. Development. 1999, 126 (24): 5749-5758.
CAS
PubMed
Google Scholar
Liu C, Liu W, Lu MF, Brown NA, Martin JF: Regulation of left-right asymmetry by thresholds of Pitx2c activity. Development. 2001, 128 (11): 2039-2048.
CAS
PubMed
Google Scholar
Kioussi C, Briata P, Baek SH, Rose DW, Hamblet NS, Herman T, Ohgi KA, Lin C, Gleiberman A, Wang J, Brault V, Ruiz-Lozano P, Nguyen HD, Kemler R, Glass CK, Wynshaw-Boris A, Rosenfeld MG: Identification of a Wnt/Dvl/beta-Catenin – > Pitx2 pathway mediating cell-type-specific proliferation during development. Cell. 2002, 111 (5): 673-685. 10.1016/S0092-8674(02)01084-X.
Article
CAS
PubMed
Google Scholar
Hamblet NS, Lijam N, Ruiz-Lozano P, Wang J, Yang Y, Luo Z, Mei L, Chien KR, Sussman DJ, Wynshaw-Boris A: Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. Development. 2002, 129 (24): 5827-5838. 10.1242/dev.00164.
Article
CAS
PubMed
Google Scholar
Franco D, Campione M: The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med. 2003, 13 (4): 157-163. 10.1016/S1050-1738(03)00039-2.
Article
CAS
PubMed
Google Scholar
Schweickert A, Campione M, Steinbeisser H, Blum M: Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in vertebrate left-right asymmetry. Mech Dev. 2000, 90 (1): 41-51. 10.1016/S0925-4773(99)00227-0.
Article
CAS
PubMed
Google Scholar
Cox CJ, Espinoza HM, McWilliams B, Chappell K, Morton L, Hjalt TA, Semina EV, Amendt BA: Differential regulation of gene expression by PITX2 isoforms. J Biol Chem. 2002, 277 (28): 25001-25010. 10.1074/jbc.M201737200.
Article
CAS
PubMed
Google Scholar
Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA: Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002, 111: 27-30. 10.1002/ajmg.10473.
Article
PubMed
Google Scholar