Genetic factors in congenital diaphragmatic hernia (Q35752633)

10 August 2017

1 reference

title

Genetic factors in congenital diaphragmatic hernia (English)

1 reference

congenital diaphragmatic hernia

10 August 2017

1 reference

A M Holder

1

1 reference

10 August 2017

M Klaassens

2

1 reference

10 August 2017

D Tibboel

3

1 reference

10 August 2017

A de Klein

4

1 reference

10 August 2017

B Lee

5

1 reference

10 August 2017

D A Scott

6

1 reference

10 August 2017

language of work or name

English

0 references

publication date

4 April 2007

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American Journal of Human Genetics

10 August 2017

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10 August 2017

80

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10 August 2017

5

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10 August 2017

825-845

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Effect of diet during pregnancy upon the incidence of congenital hereditary diaphragmatic hernia in the rat; failure to produce cystic fibrosis of the pancreas by maternal vitamin A deficiency.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Gata4 is necessary for normal pulmonary lobar development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Fetal lung and diaphragm development in congenital diaphragmatic hernia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Where to look for the genes related to diaphragmatic hernia?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Etiology of congenital diaphragmatic hernia: the retinoid hypothesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Variability in the phenotypic expression of fryns syndrome: A report of two sibships

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia: a meta-analysis of mortality factors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Cardiovascular malformations in congenital diaphragmatic hernia: human and experimental studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Cellular retinol-binding protein I is essential for vitamin A homeostasis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Etiologic and genetic factors in congenital diaphragmatic hernia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Chicken ovalbumin upstream promoter-transcription factors and their regulation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

WT-1 is required for early kidney development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Diaphragmatic herniae and translocations involving 8q22 in two patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Associated malformations and chromosomal defects in congenital diaphragmatic hernia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

2 October 2017

Delineation of trisomy 9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital posterolateral diaphragmatic hernia: associated malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Pallister-Killian syndrome: cytogenetic and molecular studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Ring chromosome 15 in a patient with features of Fryns' syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

The candidate Wilms' tumour gene is involved in genitourinary development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Two live-born infants with trisomy 22.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

The midline craniofacial skeleton in holoprosencephalic fetuses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A population‐based study of congenital diaphragmatic hernia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Diaphragmatic hernia in the south-west of England

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Two cases with different deletions of the long arm of chromosome 7.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Pathologic anatomy of the Wolf-Hirschhorn syndrome (partial monosomy 4p--)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A family with a grand-maternally derived interstitial duplication of proximal 15q.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Pathogenesis of nitrofen-induced congenital diaphragmatic hernia in fetal rats.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia in Minnesota. Impact of antenatal diagnosis on survival.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

[The main etiologic groups of congenital developmental defects and the problems of diagnosis and thanatogenesis].

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

The Wolf-Hirschhorn syndrome in fetuses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Partial trisomy 10p in two generations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia in a patient with tetrasomy 9p.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia in WAGR syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Prenatal ultrasound findings in complete trisomy 9

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Embryological origins and development of the rat diaphragm

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Increased neonatal mortality in mice lacking cellular retinol-binding protein II.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Congenital diaphragmatic hernia and interstitial deletion of chromosome 3.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Two unbalanced translocations involving a common 6p25 region in two XY female patients.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Vitamin A decreases the incidence and severity of nitrofen-induced congenital diaphragmatic hernia in rats.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

The epidemiology of diaphragmatic hernia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

[Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+].

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Patterns of malformation in children with congenital diaphragmatic defects

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852742

Trisomy 22 in an Iowa newborn

25 September 2018

1 reference

12 December 2020

A fetus with pseudo Fryns syndrome and t(18;22) translocation

1 reference

12 December 2020

A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient

1 reference

12 December 2020

Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia

1 reference

12 December 2020

Prenatal findings for complete trisomy 9

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital diaphragmatic hernia: the hidden mortality

1 reference

12 December 2020

Structural chromosome anomalies in congenital diaphragmatic hernia

1 reference

12 December 2020

Retinol status of newborn infants with congenital diaphragmatic hernia

1 reference

12 December 2020

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

12 December 2020

A family study of congenital diaphragmatic defects

1 reference

12 December 2020

Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2

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

Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism

1 reference

12 December 2020

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error

1 reference

12 December 2020

Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital

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

An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation

1 reference

12 December 2020

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

1 reference

12 December 2020

Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24)

1 reference

12 December 2020

Congenital diaphragmatic herniation: antenatal detection and outcome

1 reference

12 December 2020

Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin

1 reference

12 December 2020

Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome

1 reference

12 December 2020

Deletion of terminal portion of 6q: report of a case with unusual malformations

1 reference

12 December 2020

Diaphragmatic hernia in tetrasomy 12p mosaicism

1 reference

12 December 2020

A clinical syndrome associated with 5p duplication and 9p deletion

1 reference

12 December 2020

Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22

1 reference

12 December 2020

Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:)

1 reference

12 December 2020

Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

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

Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis

1 reference

12 December 2020

The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families

1 reference

12 December 2020

Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association

1 reference

12 December 2020

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

1 reference

12 December 2020

1 reference

12 December 2020

Correlation between lung scintigraphy and long-term outcome in survivors of congenital diaphragmatic hernia

1 reference

12 December 2020

Fryns syndrome phenotype and trisomy 22

1 reference

12 December 2020

Fryns syndrome: a case associated with karyotype XO

1 reference

12 December 2020

Diaphragmatic hernia in Denys-Drash syndrome

1 reference

12 December 2020

Terminal deletion of Xp in a dysmorphic anencephalic fetus

1 reference

12 December 2020

Experimental study on embryogenesis of congenital diaphragmatic hernia

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation

1 reference

12 December 2020

The simulation of mendelism

1 reference

12 December 2020

Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect

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

Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo)

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

Partial trisomy of the long arm of the chromosme 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)

1 reference

12 December 2020

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

1 reference

12 December 2020

[Clinical spectrum of prenatal tetralogy of Fallot]

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

Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31)

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

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

1 reference

12 December 2020

Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report

1 reference

12 December 2020

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

1 reference

12 December 2020

Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation

1 reference

12 December 2020

Identifiers

DOI

10.1086/513442

1 reference

10 August 2017

1 reference

10 August 2017

1 reference