(Q33679844)

28 July 2017

title

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

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28 July 2017

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12

Munnich A

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28 July 2017

de Lonlay-Debeney P

1

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28 July 2017

Cormier-Daire V

2

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28 July 2017

Amiel J

3

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28 July 2017

Abadie V

4

1 reference

28 July 2017

Odent S

5

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28 July 2017

Paupe A

6

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28 July 2017

Couderc S

7

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28 July 2017

Tellier AL

8

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28 July 2017

Bonnet D

9

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28 July 2017

Prieur M

10

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28 July 2017

Vekemans M

11

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28 July 2017

Lyonnet S

13

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28 July 2017

language of work or name

English

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publication date

1 December 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

12

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28 July 2017

page(s)

986-989

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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

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

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

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: 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=1051148

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

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

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

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

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

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

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

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

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

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

30 October 2018

1 reference

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

Upper limb malformations in DiGeorge syndrome

30 October 2018

1 reference

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

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

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12 December 2020

Concordant aortic arch anomalies in monozygotic twins

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12 December 2020

Identifiers

DOI

10.1136/JMG.34.12.986

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28 July 2017

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28 July 2017

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