Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene (Q36694090)

15 August 2017

title

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

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15 August 2017

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human chromosome 22

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chromosomal translocation

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author name string

M. L. Budarf

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J. Collins

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W. Gong

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B. Roe

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Z. Wang

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L. C. Bailey

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B. Sellinger

7

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D. Michaud

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D. A. Driscoll

9

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B. S. Emanuel

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language of work or name

English

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publication date

1 July 1995

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full work available at URL

15 August 2017

http://www.nature.com/articles/ng0795-269

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http://www.nature.com/articles/ng0795-269.pdf

3 August 2024

file format

Portable Document Format

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3 August 2024

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15 August 2017

volume

10

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15 August 2017

issue

3

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15 August 2017

page(s)

269-278

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Basic local alignment search tool

15 August 2017

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Protein family classification based on searching a database of blocks

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

21 January 2018

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

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

21 January 2018

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Sequence and Analysis of the Human ABL Gene, the BCR Gene, and Regions Involved in the Philadelphia Chromosomal Translocation

21 January 2018

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Neural crest and normal development: a new perspective

21 January 2018

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

DiGeorge syndrome and 22q11 rearrangements

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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.

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7 January 2021

The human minisatellite consensus at breakpoints of oncogene translocations

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7 January 2021

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

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7 January 2021

A consensus sequence for cleavage by vertebrate DNA topoisomerase II.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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.

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7 January 2021

A deletion in chromosome 22 can cause DiGeorge syndrome

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7 January 2021

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

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7 January 2021

DiGeorge syndrome: an historical review of clinical and cytogenetic features

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7 January 2021

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

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7 January 2021

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

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7 January 2021

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

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7 January 2021

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

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7 January 2021

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

In vivo topoisomerase II cleavage of the Drosophila histone and satellite III repeats: DNA sequence and structural characteristics

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3 August 2024

Identifiers

DOI

10.1038/NG0795-269

1 reference

15 August 2017

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