(Q33679844)

28 July 2017

title

Features of DiGeorge syndrome and CHARGE association in five patients (English)

1 reference

28 July 2017

12

Munnich A

1 reference

28 July 2017

Valérie Cormier-Daire

2

object named as

V. Cormier-Daire

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

2 December 2024

3

J. Amiel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

2 December 2024

13

S. Lyonnet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

2 December 2024

author name string

P. de Lonlay-Debeney

1

1 reference

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2 December 2024

V. Abadie

4

1 reference

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2 December 2024

S. Odent

5

1 reference

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2 December 2024

A. Paupe

6

1 reference

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2 December 2024

S. Couderc

7

1 reference

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2 December 2024

A. L. Tellier

8

1 reference

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2 December 2024

D. Bonnet

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

2 December 2024

M. Prieur

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

2 December 2024

M. Vekemans

11

1 reference

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2 December 2024

language of work or name

English

0 references

publication date

1 December 1997

1 reference

28 July 2017

December 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9429139

full work available at URL

2 December 2024

https://jmg.bmj.com/content/jmedgenet/34/12/986.full.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

https://europepmc.org/articles/PMC1051148

2 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

https://europepmc.org/articles/PMC1051148?pdf=render

2 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9429139

Journal of Medical Genetics

2 December 2024

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

986-989

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Noonan's and DiGeorge syndromes with monosomy 22q11.

21 June 2018

1 reference

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Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases

21 June 2018

1 reference

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DiGeorge syndrome: part of CATCH 22.

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

DiGeorge syndrome: an historical review of clinical and cytogenetic features

21 June 2018

1 reference

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21 June 2018

1 reference

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Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

21 June 2018

1 reference

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Effects of vitamin A on endocardial cushion development in the mouse heart

21 June 2018

1 reference

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

chapter 2 Migration and Differentiation of Neural Crest Cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Foetal thymic transplant in a case of Digeorge's 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=1051148

Pathologic features of the CHARGE association: support for involvement of the neural crest

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

A reappraisal of the CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

The DiGeorge anomaly as a developmental field defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the 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=1051148

The spectrum of clinical features in CHARGE 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=1051148

Who's in CHARGE? Multidisciplinary management of patients with CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Microdeletions within 22q11 associated with sporadic and familial DiGeorge 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=1051148

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge 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=1051148

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Inherited Partial Trisomy 8q (22 → qter)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051148

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A 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=1051148

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

21 June 2018

1 reference

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A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

30 October 2018

1 reference

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Upper limb malformations in DiGeorge syndrome

30 October 2018

1 reference

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Partial DiGeorge Syndrome With Substantial Cell-Mediated Immunity

30 October 2018

1 reference

12 December 2020

Spectrum of the DiGeorge "syndrome"

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Bilateral posterior choanal atresia: a morphologic and histologic study, and computed tomographic correlation

1 reference

12 December 2020

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Concordant aortic arch anomalies in monozygotic twins

1 reference

12 December 2020

Increased paternal age in CHARGE association

34

1 reference

Crossref

DOI

10.1136/JMG.34.12.986

https://api.crossref.org/works/10.1136/JMG.34.12.986

2 December 2024

Identifiers

DOI

10.1136/JMG.34.12.986

1 reference

28 July 2017

1 reference

28 July 2017

1 reference