Genetic factors in congenital diaphragmatic hernia

American Journal of Human Genetics
Ashley M HolderDaryl A Scott


Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH.


Apr 1, 1979·Journal of Medical Genetics·J M Klep-de PaterC M de Vries-Ekkers
Mar 17, 1978·Human Genetics·I W LurieI A Shved
Jun 1, 1978·Journal of Pediatric Surgery·M R HarrisonO Knutrud
Aug 1, 1976·Journal of Medical Genetics·T J David, C A Illingworth
Dec 1, 1992·Teratology·C P TorfsL H Honoré
Dec 1, 1992·Clinical Genetics·G TachdjianC Nessmann
Dec 1, 1991·Journal of Medical Genetics·I KjaerN Graem
Jan 1, 1990·Pediatric Pathology·J PhillipsonM Bogart
Apr 1, 1990·Clinical Genetics·V PecileG Filippi
Feb 1, 1990·The Journal of Pediatrics·C CunniffM C Jones
Jul 1, 1990·American Journal of Medical Genetics·N Krassikoff, G S Sekhon
Nov 1, 1989·American Journal of Medical Genetics·R D Clark, M Fenner-Gonzales
Jan 1, 1989·American Journal of Medical Genetics·S Shen-SchwarzS Marchese
Jul 1, 1989·Journal of Medical Genetics·G de JongA E Retief
Jun 1, 1987·Clinical Genetics·P PeltomäkiA de la Chapelle
Oct 1, 1988·Journal of Pediatric Surgery·D R BenjaminJ R Siebert
Sep 1, 1987·Clinical Genetics·U KristofferssonI Hägerstrand
May 1, 1985·American Journal of Medical Genetics·A Czeizel, M Kovács
Oct 1, 1983·Journal of Medical Genetics·M Habedank, G Trost-Brinkhues
Feb 1, 1984·American Journal of Medical Genetics·R NorioM Kekomäki
Aug 1, 1982·Journal of Medical Genetics·G S Frohlich
Jan 1, 1980·Human Genetics·M FraccaroL Iselius
Jan 1, 1980·American Journal of Medical Genetics·H M Moreno FuenmayorE H Chu
May 22, 1995·American Journal of Medical Genetics·K DevriendtH Devlieger
Jan 1, 1995·Fetal Diagnosis and Therapy·R BollmannC Tennstedt
Sep 1, 1994·Journal of Medical Genetics·I K TempleD Burge
Nov 1, 1994·American Journal of Medical Genetics·J I RodríguezJ Palacios
May 1, 1994·Prenatal Diagnosis·A PlajaC Mediano
Dec 1, 1993·Journal of Korean Medical Science·Y ParkI Lee
Jun 1, 1994·Archives of Pediatrics & Adolescent Medicine·R H SteinhornN R Payne
May 1, 1994·American Journal of Medical Genetics·H H Punnett
Oct 1, 1993·American Journal of Obstetrics and Gynecology·A E DonnenfeldS Weiner
Aug 27, 1993·Cell·J A KreidbergR Jaenisch
Jan 1, 1993·American Journal of Medical Genetics·J P ParkD H Wurster-Hill

❮ Previous
Next ❯


Jul 25, 2009·Pediatric Surgery International·Kohei OtakeMasato Kusunoki
Aug 20, 2009·Pediatric Surgery International·Hideaki SatoPrem Puri
Sep 4, 2009·Pediatric Surgery International·Fizan AbdullahDavid C Chang
Nov 11, 2011·European Journal of Human Genetics : EJHG·Danielle VeenmaAnnelies de Klein
Feb 9, 2012·Proceedings of the National Academy of Sciences of the United States of America·Meaghan K RussellPatricia K Donahoe
May 8, 2013·Proceedings of the National Academy of Sciences of the United States of America·Garry L Coles, Kate G Ackerman
Apr 18, 2008·Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses·Kathleen S Hartnett
May 7, 2008·Current Opinion in Anaesthesiology·Adrian T Bösenberg, Robin A Brown
Sep 9, 2010·Clinical Dysmorphology·Hermione J RaceSusan E Holder
Jan 10, 2012·Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies·Elizabeth A Berdan, Daniel A Saltzman
Oct 12, 2012·Journal of Medical Genetics·Lan YuWendy K Chung
Oct 3, 2002·American Journal of Respiratory and Critical Care Medicine·Desmond Bohn
Jan 5, 2012·Orphanet Journal of Rare Diseases·Juan A Tovar
Apr 19, 2012·Development·Heather J Ray, Lee Niswander
Jul 10, 2013·Future Cardiology·Cammon B ArringtonNeil E Bowles
Aug 12, 2009·Pediatric Surgery International·L van den HoutD Tibboel
Dec 3, 2014·Seminars in Fetal & Neonatal Medicine·Julia WynnWendy K Chung
Jan 28, 2012·Journal of Perinatology : Official Journal of the California Perinatal Association·M A Mohamed, H Aly
Nov 28, 2009·Nutrition Reviews·Leonardus W J E BeurskensRégine P M Steegers-Theunissen
May 6, 2009·American Journal of Epidemiology·Nina OyenMads Melbye
Nov 17, 2010·Cellular and Molecular Life Sciences : CMLS·Beat Trueb
Oct 14, 2009·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·S M Taheri, R A Kadir
Jan 21, 2014·Journal of Pediatric Surgery·Jarod P McAteerAdam B Goldin
Jul 26, 2011·European Journal of Medical Genetics·Florence PetitSylvie Manouvrier-Hanu
Jul 5, 2011·Pediatric Neurology·Radhika DhamijaElaine Wirrell
May 10, 2011·Revue des maladies respiratoires·A LabbéP-J Déchelotte
Jan 5, 2010·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Jul 9, 2010·Seminars in Pediatric Surgery·Annelies de Klein, Dick Tibboel
Dec 17, 2009·Journal of Pediatric Surgery·Nageena HussainRichard K Firmin
May 26, 2009·European Journal of Medical Genetics·M KlaassensD Tibboel
Jul 17, 2009·American Journal of Medical Genetics. Part a·Margaret J WatSung-Hae Lee Kang
Apr 28, 2009·American Journal of Medical Genetics. Part a·Laura L KlittenRikke S Møller

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2022 Meta ULC. All rights reserved