(Q53652979)

16 May 2018

title

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. (English)

1 reference

16 May 2018

author

Bernice E. Morrow

15

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16 May 2018

author name string

Elizabeth Spiteri

1

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16 May 2018

Melanie Babcock

2

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16 May 2018

Catherine D Kashork

3

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16 May 2018

Keiko Wakui

4

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16 May 2018

Swarna Gogineni

5

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16 May 2018

Debbie A Lewis

6

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16 May 2018

Kisa M Williams

7

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16 May 2018

Shinsei Minoshima

8

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16 May 2018

Takashi Sasaki

9

1 reference

16 May 2018

Nobuyoshi Shimizu

10

1 reference

16 May 2018

Lorraine Potocki

11

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16 May 2018

Venkat Pulijaal

12

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16 May 2018

Alan Shanske

13

1 reference

16 May 2018

Lisa G Shaffer

14

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16 May 2018

publication date

1 August 2003

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16 May 2018

published in

Human Molecular Genetics

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16 May 2018

volume

12

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16 May 2018

issue

15

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16 May 2018

page(s)

1823-1837

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16 May 2018

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

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

21 January 2018

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

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Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

21 January 2018

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A novel 22q11.2 microdeletion in DiGeorge syndrome

21 January 2018

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A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

AT-rich palindromes mediate the constitutional t(11;22) translocation.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

21 January 2018

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Characterization of physical gap sizes at human telomeres

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Structure of chromosomal duplicons and their role in mediating human genomic disorders

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

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

21 January 2018

1 reference

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Systematic analysis of 95 reciprocal translocations of autosomes

21 January 2018

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Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).

21 January 2018

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Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

21 January 2018

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Functional complementation of a genetic deficiency with human artificial chromosomes.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

21 January 2018

1 reference

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Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

THE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERES

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

One-megabase sequence analysis of the human immunoglobulin lambda gene locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

The DNA sequence of human chromosome 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG203

21 January 2018

Identifiers

DOI

10.1093/HMG/DDG203

1 reference

16 May 2018

PubMed ID

12874103

1 reference

16 May 2018