(Q35110146)

6 August 2017

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies (English)

1 reference

6 August 2017

Digilio MC

1

1 reference

6 August 2017

Angioni A

2

1 reference

6 August 2017

De Santis M

3

1 reference

6 August 2017

Lombardo A

4

1 reference

6 August 2017

Giannotti A

5

1 reference

6 August 2017

Dallapiccola B

6

1 reference

6 August 2017

Marino B

7

1 reference

6 August 2017

1 April 2003

1 reference

6 August 2017

1 reference

6 August 2017

63

1 reference

6 August 2017

4

1 reference

6 August 2017

308-313

1 reference

Prevalence of 22q11 microdeletion

6 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

The annual incidence of DiGeorge/velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

DiGeorge syndrome: part of CATCH 22.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Familial deletions of chromosome 22q11

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Frequency of inherited deletions of 22q11.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Phenotype of adults with the 22q11 deletion syndrome: A review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Velo-cardio-facial syndrome: clinical report of a 70-year-old woman.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

A new embryonic linkage between chromosome 22q11 deletion and a right ductus from a right aortic arch in a neonate with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code".

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00049.X

7 January 2021

10.1034/J.1399-0004.2003.00049.X

Identifiers

DOI

1 reference

6 August 2017

1 reference