(Q33596155)

28 July 2017

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome (English)

1 reference

28 July 2017

1 reference

Seaver LH

1

1 reference

28 July 2017

Pierpont JW

2

1 reference

28 July 2017

Erickson RP

3

1 reference

28 July 2017

Donnerstein RL

4

1 reference

28 July 2017

Cassidy SB

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

11

1 reference

28 July 2017

830-834

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

DiGeorge syndrome: part of CATCH 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

Conotruncal anomaly face syndrome is associated with a deletion within 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=1016653

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

The velo-cardio-facial syndrome: a clinical and genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

Velo-cardio-facial syndrome: language and psychological profiles.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

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=1016653

Dinucleotide repeat polymorphism at the D22S264 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=1016653

Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016653

Deletions and microdeletions of 22q11.2 in 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=1016653

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=1016653

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=1016653

Deletions within chromosome 22q11 in familial congenital heart disease

30 October 2018

1 reference

12 December 2020

Craniofacial morphology in the velo-cardio-facial syndrome

1 reference

12 December 2020

Additional eye findings in a girl with the velo-cardio-facial syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.11.830

1 reference

28 July 2017

1 reference

28 July 2017

1 reference