(Q51911649)

English

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

scientific article published in April 2010

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. (English)

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

diaphragmatic hernia

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

7

object named as

Gary M Shaw

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

author name string

Ryan Chao

2

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

Ali Moshrefi

3

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

Nelson Lopezjimenez

4

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

Allen Delaney

5

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

Justin Chen

6

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

Anne M Slavotinek

8

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

language of work or name

0 references

publication date

1 April 2010

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

152A

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

4

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

916-923

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Decorin enhances the proliferation and differentiation of myogenic cells through suppressing myostatin activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Single gene disorders associated with congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Genetic factors in congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Molecular karyotyping using an SNP array for genomewide genotyping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Antisense inhibition of decorin expression in myoblasts decreases cell responsiveness to transforming growth factor beta and accelerates skeletal muscle differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

A population‐based study of congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Identification of a novel type II classical cadherin: rat cadherin19 is expressed in the cranial ganglia and Schwann cell precursors during development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Delayed presentation of congenital diaphragmatic hernia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Coats disease: smaller volume of the affected globe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Decorin-type I collagen interaction. Presence of separate core protein-binding domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922899

13 August 2018

Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural chromosome anomalies in congenital diaphragmatic hernia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis of proteoglycans is augmented in dystrophic mdx mouse skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delayed presentation of congenital diaphragmatic hernia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33341

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2922899

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51911649&oldid=2192976913"