Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. (Q33939387)

30 July 2017

1 reference

title

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

1 reference

30 July 2017

1 reference

Barbara R Pober

1

1 reference

30 July 2017

1 May 2007

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

30 July 2017

1 reference

30 July 2017

145C

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30 July 2017

2

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30 July 2017

158-171

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Gata4 is necessary for normal pulmonary lobar development

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Molecular mechanisms of RET-induced Hirschsprung pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Clinical presentation and operative repair of hernia of Morgagni

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Association of congenital diaphragmatic hernia with limb-reduction defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital Eventration of the Diaphragm in Children: 25 Years' Experience in Three Pediatric Surgery Centers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Where to look for the genes related to diaphragmatic hernia?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Morgagni hernia with Down syndrome: a rare association -- case report and review of literature.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

NKX2.5 mutations in patients with tetralogy of fallot

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

5 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Multiple ipsilateral congenital diaphragmatic pathologies: rarities to consider

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia: a meta-analysis of mortality factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Cardiovascular malformations in congenital diaphragmatic hernia: human and experimental studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia. Epidemiology and outcome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

WT-1 is required for early kidney development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Pallister-Killian and Fryns syndromes: nosology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Diaphragmatic herniae and translocations involving 8q22 in two patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Associated malformations and chromosomal defects in congenital diaphragmatic hernia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic defect: review and conclusions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Pulmonary and diaphragmatic agenesis: report of affected sibs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia in half sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Isolated diaphragmatic defect in three sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic hernia is an autosomal recessive variant

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Discordant, non-syndromic, congenital diaphragmatic defects in sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Pars sternalis diaphragmatic hernia with omphalocele: a report of two cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial congenital diaphragmatic defect: transmission from father to daughter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Distal 8p deletion (8p23.1----8pter): a common deletion?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial occurrence of complete agenesis of the diaphragm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

The Wolf-Hirschhorn syndrome in fetuses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

A population‐based study of congenital diaphragmatic hernia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Diaphragmatic hernia in the south-west of England

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Bilateral congenital diaphragmatic defects in two siblings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Anencephaly with diaphragmatic hernia in sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Pallister-Killian syndrome: report of one case.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Genome structural variation and sporadic disease traits.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Survival rate in congenital diaphragmatic hernia: the experience of the Canadian Neonatal Network.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Pulmonary hypoplasia in Jarcho-Levin syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Donnai-Barrow syndrome: four additional patients.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Population-based study of congenital diaphragmatic hernia: risk factors and survival in Metropolitan Atlanta, 1968-1999.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Analysis of an improved survival rate for congenital diaphragmatic hernia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Bilateral congenital diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns syndromes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Craniofrontonasal syndrome and diaphragmatic hernia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial bilateral congenital diaphragmatic hernia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

The epidemiology of diaphragmatic hernia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Clinical variability of tetrasomy 12p.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Unilateral agenesis of the diaphragm

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Discordant MZ Twins With Cleft Lip and Palate: A Model for Identifying Genes in Complex Traits

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Extreme Poland anomaly associated with congenital diaphragmatic hernia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891729

Posterolateral (Bochdalek's) diaphragmatic hernia in sisters

29 October 2018

1 reference

12 December 2020

Congenital heart disease in supernumerary der(22),t(11;22) syndrome

1 reference

12 December 2020

Diaphragmatic defect in Brachmann-de Lange syndrome: a further observation

1 reference

12 December 2020

Structural chromosome anomalies in congenital diaphragmatic hernia

1 reference

12 December 2020

[Congenital diaphragmatic hernia of the embryonic type (left pleuro-peritoneal cavity): coincidence of this isolated malformation in 2 first cousins.]

1 reference

12 December 2020

Pallister-Killian syndrome: difficulties of prenatal diagnosis

1 reference

12 December 2020

A family study of congenital diaphragmatic defects

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

Bilateral congenital eventration of the diaphragms: successful surgical management

1 reference

12 December 2020

Autosomal recessive congenital diaphragmatic defects in the Arabs

1 reference

12 December 2020

Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects

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

Monozygous anencephalic triplets--a case report

1 reference

12 December 2020

Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000

1 reference

12 December 2020

Heart hypoplasia in experimental congenital diaphragmatic hernia

1 reference

12 December 2020

Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant

1 reference

12 December 2020

Familial occurrence of congenital diaphragmatic defect in three families

1 reference

12 December 2020

[Familial abnormality of the diaphragm]

1 reference

12 December 2020

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

1 reference

12 December 2020

Right diaphragmatic eventration simulating a congenital diaphragmatic hernia

1 reference

12 December 2020

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome

1 reference

12 December 2020

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia

1 reference

12 December 2020

Congenital diaphragmatic herniation: antenatal detection and outcome

1 reference

12 December 2020

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance

1 reference

12 December 2020

Birth prevalence of five congenital abnormalities of medium frequency in Budapest

1 reference

12 December 2020

Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families

1 reference

12 December 2020

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

1 reference

12 December 2020

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)

1 reference

12 December 2020

Aplasia of the diaphragm

1 reference

12 December 2020

Omphalocele and congenital diaphragmatic hernia associated with fetal trisomy 18

1 reference

12 December 2020

Congenital diaphragmatic hernia as a cause of perinatal mortality

1 reference

12 December 2020

Fryns syndrome phenotype and trisomy 22

1 reference

12 December 2020

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families

1 reference

12 December 2020

An infant with trisomy 21 and tachypnea

1 reference

12 December 2020

Unilateral agenesis of the diaphragm

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

Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases

1 reference

12 December 2020

Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report

1 reference

12 December 2020

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype

1 reference

12 December 2020

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

1 reference

12 December 2020

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

1 reference

12 December 2020

Congenital anomalies of the diaphragm. Personal experience with thirty-five consecutive cases

1 reference

12 December 2020

Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

1 reference

12 December 2020

Diaphragmatic defects in children of consanguineous parents

1 reference

12 December 2020

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

1 reference

12 December 2020

Retrospective diagnosis of Pallister-Killian syndrome by CGH array

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30126

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

PubMed ID

17436298