Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes (Q33944592)

30 July 2017

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes (English)

1 reference

30 July 2017

Taddei I

1

1 reference

30 July 2017

Morishima M

series ordinal

2

1 reference

30 July 2017

Huynh T

series ordinal

3

1 reference

30 July 2017

Lindsay EA

series ordinal

4

1 reference

30 July 2017

language of work or name

English

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publication date

18 September 2001

1 reference

Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

1 reference

30 July 2017

98

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30 July 2017

20

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30 July 2017

11428-11431

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects 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=58746

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge 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=58746

The 22q11 deletion 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=58746

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint 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=58746

A common molecular basis for rearrangement disorders on chromosome 22q11

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial 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=58746

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative 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=58746

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome 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=58746

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.201127298

DiGeorge syndrome with discordant phenotype in monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.201127298

Phenotypic discordance in monozygotic twins with 22q11.2 deletion.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=58746

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

29 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.201127298

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.201127298

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11562466

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11562466

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.201127298

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference