Monozygotic twins with chromosome 22q11 deletion and discordant phenotype (Q42668051)

4 November 2017

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype (English)

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4 November 2017

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4 November 2017

Goodship J

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4 November 2017

Cross I

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4 November 2017

Scambler P

series ordinal

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4 November 2017

language of work or name

English

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publication date

1 September 1995

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Journal of Medical Genetics

4 November 2017

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4 November 2017

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4 November 2017

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4 November 2017

746-748

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

DiGeorge syndrome: part of CATCH 22.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Congenital heart defects and twinning

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051680

Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions

3 November 2018

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12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

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12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

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12 December 2020

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

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12 December 2020

Identifiers

DOI

10.1136/JMG.32.9.746

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4 November 2017

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4 November 2017

PubMed publication ID

8544199

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