Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications (Q33280664)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

Manuel Sánchez de la Torre

28 December 2019

author

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Joan Fibla

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

D. Heine-Suñer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Laura Torres-Juan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jordi Rosell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

2 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-14

28 December 2019

exact match

0 references

cites work

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

A fine-scale map of recombination rates and hotspots across the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Whole-genome patterns of common DNA variation in three human populations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

The fine-scale structure of recombination rate variation in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Distribution of meiotic recombination sites

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

High-resolution patterns of meiotic recombination across the human major histocompatibility complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

A high-resolution recombination map of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Genomic disorders on 22q11

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Genome architecture, rearrangements and genomic disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

The DNA sequence of human chromosome 22

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

A common molecular basis for rearrangement disorders on chromosome 22q11

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Comprehensive human genetic maps: individual and sex-specific variation in recombination

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855045

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

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-14

Human recombination hot spots hidden in regions of strong marker association

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-14

Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-14

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-14

Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations

21 January 2018

1 reference

12 December 2020

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects

1 reference

12 December 2020

Evidence for substantial fine-scale variation in recombination rates across the human genome

1 reference

12 December 2020

Analysis of recombinational hot spots associated with the p haplotype of the mouse MHC

1 reference

12 December 2020

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

1 reference

12 December 2020

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

1 reference

12 December 2020

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-8-14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17397557%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference