(Q33656756)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times (English)

1 reference

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4 March 2020

5

1 reference

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4 March 2020

8

Helen Firth

1 reference

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4 March 2020

author name string

Alex Habel

1

1 reference

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4 March 2020

Richard Herriot

2

1 reference

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4 March 2020

Dinakantha Kumararatne

3

1 reference

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4 March 2020

Jeremy Allgrove

4

1 reference

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4 March 2020

Helen Baxendale

6

1 reference

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4 March 2020

Frances Bu'Lock

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Andrew Gennery

9

1 reference

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4 March 2020

Anthony Holland

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Claire Illingworth

11

1 reference

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4 March 2020

Nigel Mercer

12

1 reference

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4 March 2020

Merel Pannebakker

13

1 reference

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4 March 2020

Andrew Parry

14

1 reference

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4 March 2020

Anne Roberts

15

1 reference

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4 March 2020

Beverly Tsai-Goodman

16

1 reference

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4 March 2020

publication date

3 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

4 March 2020

published in

1 reference

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4 March 2020

volume

173

1 reference

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4 March 2020

issue

6

1 reference

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4 March 2020

page(s)

757-765

1 reference

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Creative Commons Attribution 2.0 Generic

4 March 2020

copyright license

start time

3 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00431-013-2240-z

0 references

cites work

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Genotype-phenotype correlation in 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Functional outcomes of adults with 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Review of cervical spine anomalies in genetic syndromes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Practical guidelines for managing patients with 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Clinical practice. The care of children with Down syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Premature death in adults with 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Surgical management of velopharyngeal incompetence in velocardiofacial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

22q11 deletion: a multisystem disorder requiring multidisciplinary input

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Hypoparathyroidism and 22q11 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Towards earlier diagnosis of 22q11 deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

DiGeorge syndrome: part of CATCH 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032642

ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome.

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Clinical features of 78 adults with 22q11 Deletion Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Cognitive development in children with 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Auxological evaluation in patients with a 22q11.2 microdeletion syndrome: normal prevalence of obesity and neonatal length and gender influence on body mass index evolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Communication issues in 22q11.2 deletion syndrome: children at risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2240-Z

Integration of care in The Netherlands: the development of transmural care since 1994

21 January 2018

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

Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age

1 reference

12 December 2020

Graves' disease in patients with 22q11.2 deletion

1 reference

12 December 2020

Pharyngeal flap and the internal carotid in velocardiofacial syndrome

1 reference

12 December 2020

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

1 reference

12 December 2020

10.1007/S00431-013-2240-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24384789%20AND%20SRC:MED&resulttype=core&format=json