(Q41471214)

1 October 2017

1 reference

title

Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician (English)

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1 October 2017

main subject

22q11 deletion syndrome

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J A Thomas

1

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1 October 2017

J M Graham

series ordinal

2

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1 October 2017

publication date

1 May 1997

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1 October 2017

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1 October 2017

volume

36

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1 October 2017

issue

5

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1 October 2017

page(s)

253-266

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DiGeorge syndrome: an historical review of clinical and cytogenetic features

1 October 2017

cites work

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The spectrum of the DiGeorge syndrome

21 January 2018

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

21 January 2018

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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992289703600502

Deletions within chromosome 22q11 in familial congenital heart disease

21 January 2018

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https://api.crossref.org/works/10.1177%2F000992289703600502

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992289703600502

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F000992289703600502

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

21 January 2018

1 reference

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Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

21 January 2018

1 reference

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21 January 2018

1 reference

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Cerebellar atrophy in a patient with velocardiofacial syndrome

21 January 2018

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

21 January 2018

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Neural crest cells contribute to normal aorticopulmonary septation

21 January 2018

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

21 January 2018

1 reference

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

21 January 2018

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Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

21 January 2018

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

21 January 2018

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Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

21 January 2018

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Velo-cardio-facial syndrome: a review of 120 patients.

21 January 2018

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

21 January 2018

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DiGeorge syndrome: part of CATCH 22.

21 January 2018

1 reference

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Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise

21 January 2018

1 reference

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Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

21 January 2018

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Velocardiofacial syndrome: learning difficulties and intervention

21 January 2018

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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

21 January 2018

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Brain anomalies in velo-cardio-facial syndrome

21 January 2018

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Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis

21 January 2018

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Three new mutations in patients with myophosphorylase deficiency (McArdle disease)

21 January 2018

1 reference

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Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion

21 January 2018

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Humoral immunity in DiGeorge syndrome

21 January 2018

1 reference

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Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

21 January 2018

1 reference

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Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

21 January 2018

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Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

21 January 2018

1 reference

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Bone marrow transplantation in DiGeorge syndrome

21 January 2018

1 reference

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Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes

21 January 2018

1 reference

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

21 January 2018

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Analysis of chromosome 22 markers in nine schizophrenia pedigrees

21 January 2018

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Search for a schizophrenia susceptibility locus on human chromosome 22

21 January 2018

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10.1177/000992289703600502

21 January 2018

Identifiers

DOI

0 references

1 reference