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Seminars in Pediatric Surgery
Volume 16, Issue 2
, Pages 88-93
, May 2007
Genetics of congenital diaphragmatic hernia
References
- A population-based study of congenital diaphragmatic hernia. Teratology. 1992;46:555–565
- Associated malformations and chromosomal defects in congenital diaphragmatic hernia. Fetal Diagn Ther. 1995;10:52–59
- . Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol. 1996;23:689–699
- . The Winter-Baraitser Dysmorphology Database, version 1.0.8 (London Medical Databases). 2006;
- McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Online Mendelian Inheritance in Man, OMIM™. Available from: http://www.ncbi.nlm.nih.gov/omim/.
- . Smith’s Recognizable Patterns of Human Malformation. (ed 5).. Philadelphia: PA: Saunders; 1997;
- Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet A. 1998;79:215–225
- Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diagn. 1996;16:1003–1009
- . Where to look for the genes related to diaphragmatic hernia?. Genet Couns. 2003;14:75–93
- Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005;42:730–736
- Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006;140A:17–23
- . Array comparative genomic hybridization and its applications in cancer. Nat Genet. 2005;37:11–17
- Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?. Am J Med Genet A. 2005;134:259–267
- Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005;7:422–432
- . Etiology of congenital diaphragmatic hernia: the retinoid hypothesis. Pediatr Res. 2003;53:726–730
- . Incidence of congenital diaphragmatic hernia in the young of rats bred on a diet deficient in vitamin A. Am J Dis Child. 1941;62:888–889
- . Effect of diet during pregnancy upon the incidence of congenital hereditary diaphragmatic hernia in the rat. Am J Pathol. 1949;25:163–185
- . An analysis of the syndrome of malformations induced by maternal vitamin A deficiency (Effects of restoration of vitamin A at various times during gestation). Am J Anat. 1953;92:189–217
- Toxicologic studies on 2,4-dichlorophenyl-p-nitrophenyl ether. Toxicol Appl Pharmacol. 1971;19:263–275
- . The heart and diaphragm: target organs in the neonatal death induced by nitrofen in rats: an animal model. Toxicology. 1981;20:209–227
- Nitrofen induced diaphragmatic hernias in rats: an animal model. J Pediatr Surg. 1990;25:850–854
- . Nitrofen-induced congenital diaphragmatic defects in CD1 mice. Teratology. 1993;47:119–125
- The activation of the retinoic acid response element is inhibited in an animal model of congenital diaphragmatic hernia. Biol Neonate. 2003;83:157–161
- Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents. Am J Path. 2003;162:673–679
- Function of the retinoic acid receptors (RARs) during development (II) Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development. 1994;120:2749–2771
- Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci USA. 2005;102:16351–16356
- Retinol status of newborn infants with congenital diaphragmatic hernia. Pediatr Surg Int. 1998;13:547–549
- Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet. 2005;76:877–882
- Chicken ovalbumin upstream promoter-transcription factors and their regulation. J Steroid Biochem Mol Biol. 1996;56:81–85
- . Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age. Endocr Rev. 1997;18:229–240
- The candidate Wilm’s tumour gene is involved in genitourinary development. Nature. 1990;346:194–197
- Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet A. 2005;134:430–433
- . Two cases of 11p13 interstitial deletion and unusual clinical features. Clin Genet. 1984;26:247–249
- Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet. 1995;57:97–101
- WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int. 2000;57:1868–1872
- Reardon W, Smith S, Suri M, et al. WT1 mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome. Abstract #802. Available at: http://www.ashg.org/cgi-bin/ashg04s/ashg04.
- WT-1 is required for early kidney development. Cell. 1993;74:679–691
- A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. Proc Natl Acad Sci U S A. 2003;100:5217–5222
- Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes. Proc Natl Acad Sci U S A. 1999;96:956–961
- Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet. 2005;1:58–65
- Friend of GATA 2 physically interacts with chicken ovalbumin upstream promoter-TF2 (COUP-TF2) and COUP-TF3 and represses COUP-TF2-dependent activation of the atrial natriuretic factor promoter. J Biol Chem. 2001;276:28029–28036
- . The simulation of mendelism. Acta Genet Stat Med. 1960;10:63–70
- . Familial congenital diaphragmatic defect: review and conclusions. Hum Genet. 1980;54:1–5
- Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet. 1984;17:471–483
PII: S1055-8586(07)00004-2
doi: 10.1053/j.sempedsurg.2007.01.003
© 2007 Elsevier Inc. All rights reserved.
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Seminars in Pediatric Surgery
Volume 16, Issue 2
, Pages 88-93
, May 2007
