Literature DB >> 17436298

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Barbara R Pober1.   

Abstract

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID： 17436298      PMCID： PMC2891729          DOI： 10.1002/ajmg.c.30126

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  140 in total

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3.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

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Review 5.  Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Authors:  Anne M Slavotinek
Journal:  Am J Med Genet A       Date:  2004-02-01       Impact factor: 2.802

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Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

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Review 8.  Donnai-Barrow syndrome: four additional patients.

Authors:  Nicolas Chassaing; Didier Lacombe; Dominique Carles; Patrick Calvas; Robert Saura; Eric Bieth
Journal:  Am J Med Genet A       Date:  2003-09-01       Impact factor: 2.802

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  52 in total

1.  Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.

Authors:  Margaret J Wat; Victoria B Enciso; Wojciech Wiszniewski; Trevor Resnick; Patricia Bader; Elizabeth R Roeder; Debra Freedenberg; Chester Brown; Pawel Stankiewicz; Sau-Wai Cheung; Daryl A Scott
Journal:  J Med Genet       Date:  2010-10-04       Impact factor: 6.318

2.  Wt1 and β-catenin cooperatively regulate diaphragm development in the mouse.

Authors:  Nicole D Paris; Garry L Coles; Kate G Ackerman
Journal:  Dev Biol       Date:  2015-08-14       Impact factor: 3.582

3.  Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

Authors:  Meaghan K Russell; Mauro Longoni; Julie Wells; Faouzi I Maalouf; Adam A Tracy; Maria Loscertales; Kate G Ackerman; Barbara R Pober; Kasper Lage; Carol J Bult; Patricia K Donahoe
Journal:  Proc Natl Acad Sci U S A       Date:  2012-02-06       Impact factor: 11.205

4.  Downregulated bone morphogenetic protein signaling in nitrofen-induced congenital diaphragmatic hernia.

Authors:  Martine Makanga; Céline Dewachter; Hidekazu Maruyama; Aline Vuckovic; Benoit Rondelet; Robert Naeije; Laurence Dewachter
Journal:  Pediatr Surg Int       Date:  2013-07-06       Impact factor: 1.827

5.  Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Authors:  Lan Yu; Ashley D Sawle; Julia Wynn; Gudrun Aspelund; Charles J Stolar; Marc S Arkovitz; Douglas Potoka; Kenneth S Azarow; George B Mychaliska; Yufeng Shen; Wendy K Chung
Journal:  Hum Mol Genet       Date:  2015-06-01       Impact factor: 6.150

Review 6.  The influence of genetics in congenital diaphragmatic hernia.

Authors:  Lan Yu; Rebecca R Hernan; Julia Wynn; Wendy K Chung
Journal:  Semin Perinatol       Date:  2019-08-01       Impact factor: 3.300

7.  A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia.

Authors:  Patricia K Donahoe
Journal:  J Pediatr Surg       Date:  2009-02       Impact factor: 2.545

8.  Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:  Tyler F Beck; Danielle Veenma; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Hitisha P Zaveri; Yolande van Bever; Sunju Choi; Hannie Douben; Terry K Bertin; Pragna I Patel; Brendan Lee; Dick Tibboel; Annelies de Klein; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2012-12-05       Impact factor: 6.150

Review 9.  Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.

Authors:  Allyson J Merrell; Gabrielle Kardon
Journal:  FEBS J       Date:  2013-05-07       Impact factor: 5.542

Review 10.  Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Authors:  Patricia K Donahoe; Mauro Longoni; Frances A High
Journal:  Am J Pathol       Date:  2016-08-24       Impact factor: 4.307
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