Processes of de novo duplication of human alpha-globin genes. (Q35864984)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573529%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Processes of de novo duplication of human alpha-globin genes (English)

1 reference

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31 December 2019

1

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31 December 2019

author name string

Alec J Jeffreys

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573529%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

language of work or name

English

0 references

publication date

15 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573529%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

31 December 2019

published in

1 reference

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31 December 2019

volume

104

1 reference

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31 December 2019

issue

26

1 reference

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31 December 2019

page(s)

10950-10955

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Global variation in copy number in the human genome

31 December 2019

cites work

1 reference

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

11 July 2018

1 reference

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Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.

11 July 2018

1 reference

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Structural variation in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

11 July 2018

1 reference

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Genome architecture, rearrangements and genomic disorders

11 July 2018

1 reference

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High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot

11 July 2018

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Sequence, structure, and evolution of a complete human olfactory receptor gene cluster

11 July 2018

1 reference

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

11 July 2018

1 reference

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A common molecular basis for rearrangement disorders on chromosome 22q11

11 July 2018

1 reference

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Efficient copying of nonhomologous sequences from ectopic sites via P-element-induced gap repair

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Triplicated alpha-globin loci in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

High frequencies of alpha-thalassaemia are the result of natural selection by malaria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Multiple mechanisms generate extrachromosomal circular DNA in Chinese hamster ovary cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

A review of the molecular genetics of the human alpha-globin gene cluster

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Molecular epidemiology of the thalassaemias (including haemoglobin E)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Two alternative pathways of double-strand break repair that are kinetically separable and independently modulated

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

Hemoglobins Lepore and anti-Lepore

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

11 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0703856104

Allelic recombination and de novo deletions in sperm in the human beta-globin gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0703856104

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904127

ALPHA GLOBIN GENOTYPES IN TWO NORTH EUROPEAN POPULATIONS

24 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0703856104

Complex gene conversion events in germline mutation at human minisatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0703856104

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573529

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17573529

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17573529

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0703856104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573529%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573529%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference