(Q33595860)

28 July 2017

title

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

1 reference

28 July 2017

Holder SE

1

1 reference

28 July 2017

Winter RM

series ordinal

2

1 reference

28 July 2017

Kamath S

series ordinal

3

1 reference

28 July 2017

Scambler PJ

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

30

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

825-827

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

Di George anomaly and velocardiofacial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

Possible role for COMT in psychosis associated with velo-cardio-facial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

The natural history of ventricular septal defects in infancy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016563

Late‐Onset psychosis in the velo‐cardio‐facial syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8230158

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8230158

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.10.825

1 reference

28 July 2017

1 reference

28 July 2017

1 reference