Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review (Q34242739)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

Europe PubMed Central

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

literature review

1 reference

based on heuristic

inferred from title

author name string

Shaikh TH

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Kurahashi H

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Emanuel BS

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

1 January 2001

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

6-13

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Parameters of the human genome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

The DNA sequence of human chromosome 22

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A molecular timescale for vertebrate evolution

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Evolution of the master Alu gene(s)

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Lethal multiple pterygium syndrome: Importance of fetal physical examination

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200101000-00003

21 January 2018

Identifiers

10.1097/00125817-200101000-00003

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34242739&oldid=2196411773"