Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia (Q35581878)

9 August 2017

title

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia (English)

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congenital diaphragmatic hernia

9 August 2017

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18

Dick Tibboel

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9 August 2017

Margaret J Wat

1

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9 August 2017

Danielle Veenma

2

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9 August 2017

Jacob Hogue

3

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9 August 2017

Ashley M Holder

4

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9 August 2017

Zhiyin Yu

5

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9 August 2017

Jeanette J Wat

6

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9 August 2017

Neil Hanchard

7

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9 August 2017

Oleg A Shchelochkov

8

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9 August 2017

Caraciolo J Fernandes

9

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9 August 2017

Anthony Johnson

10

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9 August 2017

Kevin P Lally

11

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9 August 2017

Anne Slavotinek

12

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9 August 2017

Olivier Danhaive

13

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9 August 2017

Thomas Schaible

14

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9 August 2017

Sau Wai Cheung

15

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9 August 2017

Katherine A Rauen

16

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9 August 2017

Vijay S Tonk

17

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9 August 2017

Annelies de Klein

19

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9 August 2017

Daryl A Scott

20

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9 August 2017

language of work or name

English

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publication date

1 May 2011

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Journal of Medical Genetics

9 August 2017

published in

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9 August 2017

volume

48

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9 August 2017

issue

5

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9 August 2017

page(s)

299-307

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Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes

9 August 2017

cites work

1 reference

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

12 July 2018

1 reference

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Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

12 July 2018

1 reference

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Overexpression of MIP2, a novel WD-repeat protein, promotes proliferation of H9c2 cells

12 July 2018

1 reference

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

12 July 2018

1 reference

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Wnt5a regulates distinct signalling pathways by binding to Frizzled2

12 July 2018

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High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

12 July 2018

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Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

12 July 2018

1 reference

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Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

12 July 2018

1 reference

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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

12 July 2018

1 reference

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Integrated detection and population-genetic analysis of SNPs and copy number variation

12 July 2018

1 reference

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Tbx6 regulates left/right patterning in mouse embryos through effects on nodal cilia and perinodal signaling

12 July 2018

1 reference

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The migration of paraxial and lateral plate mesoderm cells emerging from the late primitive streak is controlled by different Wnt signals.

12 July 2018

1 reference

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Wnt3a-mediated chemorepulsion controls movement patterns of cardiac progenitors and requires RhoA function

12 July 2018

1 reference

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

12 July 2018

1 reference

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Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients

12 July 2018

1 reference

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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Genetics of congenital diaphragmatic hernia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

12 July 2018

1 reference

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Genetic factors in congenital diaphragmatic hernia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

ASPP2 is a haploinsufficient tumor suppressor that cooperates with p53 to suppress tumor growth

12 July 2018

1 reference

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SNPs3D: candidate gene and SNP selection for association studies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Structure-function analysis of Frizzleds

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins

12 July 2018

1 reference

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WDR26: a novel Gbeta-like protein, suppresses MAPK signaling pathway

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Where to look for the genes related to diaphragmatic hernia?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

ASPP2 inhibits APP‐BP1‐mediated NEDD8 conjugation to cullin‐1 and decreases APP‐BP1‐induced cell proliferation and neuronal apoptosis

12 July 2018

1 reference

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Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

12 July 2018

1 reference

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Prediction of deleterious human alleles

12 July 2018

1 reference

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Functional genomics reveals a family of eukaryotic oxidation protection genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Mesoderm-specific expression of the divergent homeobox gene Hlx during murine embryogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Fryns syndrome survivors and neurologic outcome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Hlx homeo box gene is essential for an inductive tissue interaction that drives expansion of embryonic liver and gut

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3227222

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

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21525063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The simulation of mendelism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21525063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21525063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2011.089680

1 reference

9 August 2017

1 reference

9 August 2017

1 reference