Molecular genetics of congenital diaphragmatic defects. (Q36327174)

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31 December 2019

review article

1 reference

title

Molecular genetics of congenital diaphragmatic defects (English)

1 reference

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31 December 2019

0 references

5

1 reference

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31 December 2019

David B. Wilson

7

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31 December 2019

author name string

Malgorzata Bielinska

1

1 reference

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31 December 2019

Patrick Y Jay

2

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31 December 2019

Jonathan M Erlich

3

1 reference

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31 December 2019

Susanna Mannisto

4

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31 December 2019

Markku Heikinheimo

6

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31 December 2019

language of work or name

English

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publication date

1 January 2007

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31 December 2019

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31 December 2019

volume

39

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31 December 2019

issue

4

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31 December 2019

page(s)

261-274

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Genetic factors in congenital diaphragmatic hernia

31 December 2019

cites work

1 reference

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Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis

30 September 2017

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Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects

30 September 2017

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Gata4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure

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Small lungs and suspect smooth muscle: congenital diaphragmatic hernia and the smooth muscle hypothesis

30 September 2017

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Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

30 September 2017

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Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

30 September 2017

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Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues

30 September 2017

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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

30 September 2017

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Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia

30 September 2017

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Fog2 is required for normal diaphragm and lung development in mice and humans

30 September 2017

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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

30 September 2017

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The genetics of congenital diaphragmatic hernia

30 September 2017

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Congenital diaphragmatic hernia: a retinoid-signaling pathway disruption during lung development?

30 September 2017

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Haploinsufficiency of chicken ovalbumin upstream promoter transcription factor II in female reproduction.

30 September 2017

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Recent advances in congenital diaphragmatic hernia

30 September 2017

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

30 September 2017

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30 September 2017

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TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

30 September 2017

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30 September 2017

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A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

30 September 2017

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One tissue, two fates: molecular genetic events that underlie testis versus ovary development

30 September 2017

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30 September 2017

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30 September 2017

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Mutated MESP2 causes spondylocostal dysostosis in humans

30 September 2017

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Wt1 functions in the development of germ cells in addition to somatic cell lineages of the testis

30 September 2017

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30 September 2017

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Association of congenital diaphragmatic hernia with limb-reduction defects

30 September 2017

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Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

30 September 2017

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Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia

30 September 2017

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Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice

30 September 2017

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

30 September 2017

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Control of skeletal patterning by ephrinB1-EphB interactions

30 September 2017

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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

30 September 2017

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Where to look for the genes related to diaphragmatic hernia?

30 September 2017

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30 September 2017

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Etiology of congenital diaphragmatic hernia: the retinoid hypothesis

30 September 2017

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Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

30 September 2017

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30 September 2017

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30 September 2017

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Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice

30 September 2017

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30 September 2017

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

30 September 2017

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Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

30 September 2017

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Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo

30 September 2017

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Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

30 September 2017

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Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene

30 September 2017

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Heparan sulfate proteoglycans retain Noggin at the cell surface: a potential mechanism for shaping bone morphogenetic protein gradients

30 September 2017

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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

30 September 2017

1 reference

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Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

30 September 2017

1 reference

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Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition

30 September 2017

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Essential role of Gab1 for signaling by the c-Met receptor in vivo

30 September 2017

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glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development

30 September 2017

1 reference

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The basic helix-loop-helix transcription factor capsulin controls spleen organogenesis

30 September 2017

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FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium

30 September 2017

1 reference

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Dual-hit hypothesis explains pulmonary hypoplasia in the nitrofen model of congenital diaphragmatic hernia

30 September 2017

1 reference

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To be or not to be active: the stochastic nature of enhancer action

30 September 2017

1 reference

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Cardiovascular malformations in congenital diaphragmatic hernia: human and experimental studies

30 September 2017

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The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development

30 September 2017

1 reference

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YAC complementation shows a requirement for Wt1 in the development of epicardium, adrenal gland and throughout nephrogenesis

30 September 2017

1 reference

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FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped

30 September 2017

1 reference

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Modeling stochastic gene expression: implications for haploinsufficiency

30 September 2017

1 reference

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Epicardium-derived cells contribute a novel population to the myocardial wall and the atrioventricular cushions

30 September 2017

1 reference

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Elastin is an essential determinant of arterial morphogenesis

30 September 2017

1 reference

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Capsulin: a novel bHLH transcription factor expressed in epicardial progenitors and mesenchyme of visceral organs

30 September 2017

1 reference

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Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

30 September 2017

1 reference

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GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

30 September 2017

1 reference

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WT-1 is required for early kidney development

30 September 2017

1 reference

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Diaphragmatic herniae and translocations involving 8q22 in two patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud

30 September 2017

1 reference

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Congenital posterolateral diaphragmatic hernia: associated malformations

30 September 2017

1 reference

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Deficiency of distal 8p--report of two cases and review of the literature

30 September 2017

1 reference

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Persistent hypoplasia of the lung after repair of congenital diaphragmatic hernia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Congenital diaphragmatic hernia--does the side of the defect influence the incidence of associated malformations?

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Function of the retinoic acid receptors (RARs) during development: (II) Multiple abnormalities at various stages of organogenesis in RAR double mutants

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Delineation of the male phenotype in carniofrontonasal syndrome.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Congenital diaphragmatic hernia associated with spinal anomalies.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Genomic approaches to surgical diseases: 21st annual Samuel Jason Mixter lecture

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Congenital diaphragmatic hernia in WAGR syndrome.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

A significant reduction of the diaphragm in mdx:MyoD-/-(9th) embryos suggests a role for MyoD in the diaphragm development.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Haploinsufficiency at the Nkx3.1 locus. A paradigm for stochastic, dosage-sensitive gene regulation during tumor initiation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Lysyl oxidase is required for vascular and diaphragmatic development in mice

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Diverse requirements for Notch signalling in mammals

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Temporal and spatial expression of two isoforms of the Dutt1/Robo1 gene in mouse development

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Impaired distal airway development in mice lacking elastin.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Early lung malformations in congenital diaphragmatic hernia.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Hepatocyte growth factor (HGF) receptor expression and role of HGF during embryonic mouse testis development.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

The role of SF/HGF and c-Met in the development of skeletal muscle.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174621

Peristalsis of airway smooth muscle is developmentally regulated and uncoupled from hypoplastic lung growth

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080%2F07853890701326883

Airway Smooth Muscle Dysfunction Precedes Teratogenic Congenital Diaphragmatic Hernia and May Contribute to Hypoplastic Lung Morphogenesis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080%2F07853890701326883

No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia

21 January 2018

1 reference

12 December 2020

Double vagina, cardiac, pulmonary, and other genital malformations with 46, XY karyotype

1 reference

12 December 2020

Diaphragm defects occur in a CDH hernia model independently of myogenesis and lung formation

1 reference

12 December 2020

Structural chromosome anomalies in congenital diaphragmatic hernia

1 reference

12 December 2020

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

1 reference

12 December 2020

Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease

1 reference

12 December 2020

46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia

1 reference

12 December 2020

Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome

1 reference

12 December 2020

Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry

1 reference

12 December 2020

Structure of the primordial diaphragm and defects associated with nitrofen-induced CDH

1 reference

12 December 2020

Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia

1 reference

12 December 2020

Cardiovascular malformations in experimental congenital diaphragmatic hernia

1 reference

12 December 2020

Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect

1 reference

12 December 2020

Congenital liver cyst presenting as congenital diaphragmatic hernia

1 reference

12 December 2020

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

1 reference

12 December 2020

Infantile hemangioendothelioma of heterotopic intrathoracic liver associated with diaphragmatic hernia

1 reference

12 December 2020

Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome

1 reference

12 December 2020

Diaphragmatic hernia in Denys-Drash syndrome

1 reference

12 December 2020

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

1 reference

12 December 2020

Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester

1 reference

12 December 2020

Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the Congenital Diaphragmatic Hernia Study Group

1 reference

12 December 2020

10.1080/07853890701326883

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17558598%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17558598%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

17558598

1 reference