(Q41810719)

12 October 2017

Radial aplasia and chromosome 22q11 deletion (English)

1 reference

12 October 2017

1 reference

Digilio MC

1

1 reference

12 October 2017

Giannotti A

2

1 reference

12 October 2017

Marino B

3

1 reference

12 October 2017

Guadagni AM

4

1 reference

12 October 2017

Orzalesi M

5

1 reference

12 October 2017

Dallapiccola B

6

1 reference

12 October 2017

language of work or name

English

0 references

publication date

1 November 1997

1 reference

Journal of Medical Genetics

12 October 2017

1 reference

12 October 2017

34

1 reference

12 October 2017

11

1 reference

12 October 2017

942-944

1 reference

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Renal and urological tract malformations caused by a 22q11 deletion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

DiGeorge syndrome: part of CATCH 22.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Cerebellar atrophy in a patient with velocardiofacial syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Ocular findings in the velo-cardio-facial syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Brain anomalies in velo-cardio-facial syndrome.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Limb anomalies in DiGeorge and CHARGE syndromes

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Upper limb malformations in DiGeorge syndrome

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051127

Upper limb malformations in chromosome 22q11 deletions

2 December 2018

1 reference

12 December 2020

[The rectus femoris muscle--the beginning tendon, its functional significance]

1 reference

12 December 2020

Velo-cardio-facial syndrome vs. CHARGE "association"

1 reference

12 December 2020

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.11.942

1 reference

12 October 2017

1 reference

12 October 2017

1 reference