Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. (Q47293089)

13 January 2018

title

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

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13 January 2018

author

Geraldo A. Passos

6

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13 January 2018

Ester S Ramos

object named as

Ester S Ramos

4

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author name string

Paula Sandrin-Garcia

1

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Dagma V M Abramides

2

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13 January 2018

Lúcia R Martelli

3

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13 January 2018

Antônio Richieri-Costa

5

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13 January 2018

publication date

11 April 2007

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13 January 2018

Molecular and Cellular Biochemistry

published in

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13 January 2018

volume

303

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issue

1-2

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13 January 2018

page(s)

9-17

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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

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13 January 2018

release_thn7q5htangw5asq75qipg5zmq

Fatcat ID

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Fatcat

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

24 November 2022

mapped directly with Wikidata item

PubMed ID

17426930

1 reference

13 January 2018