(Q35642954)

9 August 2017

title

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome (English)

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9 August 2017

7

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9 August 2017

B Morrow

1

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9 August 2017

R Goldberg

2

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9 August 2017

C Carlson

3

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9 August 2017

R Das Gupta

4

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9 August 2017

H Sirotkin

5

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9 August 2017

J Collins

6

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9 August 2017

H O'Donnell

8

1 reference

9 August 2017

P Scambler

9

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9 August 2017

R Shprintzen

10

1 reference

9 August 2017

language of work or name

English

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publication date

1 June 1995

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American Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

56

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9 August 2017

issue

6

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9 August 2017

page(s)

1391-1403

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velo-cardio-facial syndrome: a review of 120 patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Twelve new polymorphic microsatellites on human chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A microsatellite-based multipoint index map of human chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Twenty-one polymorphic markers from human chromosome 12 for integration of genetic and physical maps

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation and characterization of 25 unique DNA markers for human chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation and regional mapping of 110 chromosome 22 STSs.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

The velo-cardio-facial syndrome: a clinical and genetic analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Neural crest cells contribute to normal aorticopulmonary septation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Neural crest and normal development: a new perspective

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velo-cardio-facial syndrome: language and psychological profiles.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Duplication of the bcr and gamma-glutamyl transpeptidase genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A genetic linkage map of the long arm of human chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A panel of human chromosome 22-specific sequence tagged sites

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801093

Craniofacial morphology in the velo-cardio-facial syndrome

15 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Retrospective diagnoses of previously missed syndromic disorders among 1,000 patients with cleft lip, cleft palate, or both

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Adenoid hypoplasia in the velo-cardio-facial syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Cardiac malformations in the velocardiofacial syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Chemically induced congenital thymic dysgenesis in the rat: a model of the DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Dependence of thymus development on derivatives of the neural crest

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762562

12 December 2020

Identifiers

PMC publication ID

1801093

1 reference

9 August 2017

1 reference