(Q34242739)

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

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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

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based on heuristic

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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

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