(Q36694090)

15 August 2017

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene (English)

1 reference

15 August 2017

1 reference

Budarf ML

1

1 reference

15 August 2017

Collins J

2

1 reference

15 August 2017

Gong W

3

1 reference

15 August 2017

Roe B

4

1 reference

15 August 2017

Wang Z

5

1 reference

15 August 2017

Bailey LC

6

1 reference

15 August 2017

Sellinger B

7

1 reference

15 August 2017

Michaud D

8

1 reference

15 August 2017

Driscoll DA

9

1 reference

15 August 2017

Emanuel BS

10

1 reference

15 August 2017

language of work or name

English

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publication date

1 July 1995

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15 August 2017

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15 August 2017

10

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15 August 2017

269-278

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15 August 2017

3

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https://scigraph.springernature.com/pub.10.1038/ng0795-269

15 August 2017

0 references

cites work

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

PROSITE: a dictionary of sites and patterns in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Protein family classification based on searching a database of blocks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

Neural crest and normal development: a new perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

The human minisatellite consensus at breakpoints of oncogene translocations

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Characterization of the translocation breakpoint sequences in Philadelphia-positive acute lymphoblastic leukemia

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

A consensus sequence for cleavage by vertebrate DNA topoisomerase II.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Drosophila topoisomerase II double-strand DNA cleavage: analysis of DNA sequence homology at the cleavage site

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

DiGeorge syndrome: an historical review of clinical and cytogenetic features

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

A sequence assembly and editing program for efficient management of large projects

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

https://api.crossref.org/works/10.1038%2FNG0795-269

1 reference

7 January 2021

Toward a long-range map of human chromosomal band 22q11.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-269

7 January 2021

Identifiers

DOI

10.1038/NG0795-269

1 reference

15 August 2017

1 reference