(Q47293089)

13 January 2018

title

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. (English)

1 reference

13 January 2018

author

Geraldo A. Passos

6

1 reference

13 January 2018

Ester S Ramos

object named as

Ester S Ramos

4

0 references

author name string

Paula Sandrin-Garcia

1

1 reference

13 January 2018

Dagma V M Abramides

2

1 reference

13 January 2018

Lúcia R Martelli

3

1 reference

13 January 2018

Antônio Richieri-Costa

5

1 reference

13 January 2018

publication date

11 April 2007

1 reference

13 January 2018

Molecular and Cellular Biochemistry

published in

1 reference

13 January 2018

volume

303

1 reference

13 January 2018

issue

1-2

1 reference

13 January 2018

page(s)

9-17

1 reference

13 January 2018

https://scigraph.springernature.com/pub.10.1007/s11010-007-9450-5

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

1 reference

12 December 2020

The 22q11.2 deletion syndrome

1 reference

12 December 2020

Velo-cardio-facial syndrome: a distinctive behavioral phenotype

1 reference

12 December 2020

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

12 December 2020

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

1 reference

12 December 2020

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

1 reference

12 December 2020

The velocardiofacial syndrome: a review.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb

1 reference

12 December 2020

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

1 reference

12 December 2020

COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

1 reference

12 December 2020

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 reference

12 December 2020

The 22q11 deletion syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

1 reference

12 December 2020

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

12 December 2020

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

12 December 2020

Psychiatric inpatients and chromosome deletions within 22q11.2.

1 reference

12 December 2020

The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development

1 reference

12 December 2020

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

12 December 2020

10.1007/S11010-007-9450-5

Identifiers

DOI

1 reference

13 January 2018

release_thn7q5htangw5asq75qipg5zmq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/thn7q5htangw5asq75qipg5zmq

24 November 2022

mapped directly with Wikidata item

PubMed ID

17426930

1 reference

13 January 2018