(Q41733088)

8 October 2017

0 references

5q11.2 deletion in a patient with tracheal agenesis (English)

1 reference

8 October 2017

4

1 reference

8 October 2017

9

Dick Tibboel

1 reference

8 October 2017

Elisabeth M de Jong

1

1 reference

8 October 2017

Hannie Douben

2

1 reference

8 October 2017

Bert H Eussen

3

1 reference

8 October 2017

Marja W Wessels

5

1 reference

8 October 2017

Pino J Poddighe

6

1 reference

8 October 2017

Peter G J Nikkels

7

1 reference

8 October 2017

Ronald R de Krijger

8

1 reference

8 October 2017

Annelies de Klein

10

1 reference

8 October 2017

16 June 2010

1 reference

European Journal of Human Genetics

8 October 2017

1 reference

8 October 2017

18

1 reference

8 October 2017

11

1 reference

8 October 2017

1265-1268

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.84

8 October 2017

0 references

cites work

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

beta-Catenin promotes respiratory progenitor identity in mouse foregut

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

A case of tracheal agenesis surviving without mechanical ventilation after external esophageal stenting

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Bmp4 is required for tracheal formation: a novel mouse model for tracheal agenesis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Gene prioritization through genomic data fusion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Detection of large-scale variation in the human genome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Diminished callus size and cartilage synthesis in alpha 1 beta 1 integrin-deficient mice during bone fracture healing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Congenital absence of the trachea

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Tracheal agenesis revisited: analysis of associated anomalies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Sonic hedgehog is essential to foregut development

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Multiple defects and perinatal death in mice deficient in follistatin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Tracheal agenesis in infants with VATER association

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Molecular study of 33 families with Fraser syndrome new data and mutation review.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Tissue-specific expression of retinoic acid receptor isoform transcripts in the mouse embryo.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987473

Tracheal agenesis with anomalies found in both VACTERL and TACRD associations

18 August 2018

1 reference

12 December 2020

Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association

1 reference

12 December 2020

Agenesis of the trachea

1 reference

12 December 2020

Use of computed tomography to categorize the type of tracheal agenesis

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.84

1 reference

Dimensions Publication ID

8 October 2017

0 references

1 reference

8 October 2017

PubMed publication ID

20551993

1 reference