(Q38084601)

English

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

scientific article published on 26 February 2013

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23440478%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature (English)

1 reference

Europe PubMed Central

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24 February 2020

Fabíola P Monteiro

1

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24 February 2020

Ilária Cristina Sgardioli

3

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24 February 2020

4

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24 February 2020

Isabella Lopes Monlleó

7

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24 February 2020

Claudio E.M. Banzato

13

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24 February 2020

Vera L Gil-da-Silva-Lopes

16

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24 February 2020

author name string

Társis P Vieira

2

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24 February 2020

Ana Paula Damiano

5

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24 February 2020

Josiane Souza

6

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24 February 2020

Marshall I B Fontes

8

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24 February 2020

Agnes C Fett-Conte

9

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24 February 2020

Têmis M Félix

10

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24 February 2020

Gabriela F Leal

11

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24 February 2020

Erlane M Ribeiro

12

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24 February 2020

Clarissa de R Dantas

14

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24 February 2020

Iscia Lopes-Cendes

15

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24 February 2020

publication date

26 February 2013

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24 February 2020

European Journal of Pediatrics

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24 February 2020

172

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24 February 2020

7

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24 February 2020

927-945

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24 February 2020

https://scigraph.springernature.com/pub.10.1007/s00431-013-1964-0

0 references

Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Screening for 22q11 deletions in a schizophrenia population.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Schizophrenia and 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

A population study of chromosome 22q11 deletions in infancy

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Deletion 22q11: spectrum of associated disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Rethinking schizophrenia

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Detailed analysis of 22q11.2 with a high density MLPA probe set

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

The molecular genetics of the 22q11-associated schizophrenia

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Chromosome 22q11 deletions in patients with conotruncal heart defects.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22)

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Microduplication 22q11.2: a new chromosomal syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Velo-cardio-facial syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Psychiatric inpatients and chromosome deletions within 22q11.2.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Hypoparathyroidism and 22q11 deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Towards earlier diagnosis of 22q11 deletions

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Velocardiofacial syndrome in childhood-onset schizophrenia.

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

22q11 deletion syndrome in childhood onset schizophrenia: an update

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-1964-0

21 January 2018

The search for hemizygosity at 22qll in patients with isolated cleft palate

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

22q11 deletion syndrome in adults with schizophrenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is isolated palatal anomaly an indication to screen for 22q11 region deletion?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent association of 22q11.2 deletion with tetralogy of Fallot

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velopharyngeal incompetence and chromosome 22q11 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

22q11 Deletion in children with cleft lip and palate--is routine screening justified?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/23440478

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-013-1964-0

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23440478%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23440478%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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