Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. (Q34694670)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16709669%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

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

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1

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author name string

Alec J Jeffreys

series ordinal

2

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21 January 2020

language of work or name

English

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publication date

18 May 2006

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16709669%20AND%20SRC:MED&resulttype=core&format=json

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

21 January 2020

published in

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21 January 2020

volume

103

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issue

24

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page(s)

8921-8927

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Structural variation in the human genome

21 January 2020

cites work

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Segmental duplications and copy-number variation in the human genome

7 July 2018

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Fine-scale structural variation of the human genome

7 July 2018

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Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume

7 July 2018

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Large-scale copy number polymorphism in the human genome

7 July 2018

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

7 July 2018

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Recent segmental duplications in the human genome

7 July 2018

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Genome architecture, rearrangements and genomic disorders

7 July 2018

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

7 July 2018

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Segmental duplications: an 'expanding' role in genomic instability and disease

7 July 2018

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The population genetics of the haemoglobinopathies

7 July 2018

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

7 July 2018

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

7 July 2018

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Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia

7 July 2018

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

7 July 2018

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

7 July 2018

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Betaine improves the PCR amplification of GC-rich DNA sequences

7 July 2018

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

7 July 2018

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The Minimum Amount of Homology Required for Homologous Recombination in Mammalian Cells

7 July 2018

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Independent recombination events between the duplicated human α globin genes; implications for their concerted evolution

7 July 2018

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Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions

7 July 2018

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

7 July 2018

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Recombination between repeated genes in microorganisms

7 July 2018

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Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

7 July 2018

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Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

7 July 2018

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

7 July 2018

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Homology requirements for unequal crossing over in humans

7 July 2018

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Molecular epidemiology of the thalassaemias (including haemoglobin E)

7 July 2018

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Hemoglobins Lepore and anti-Lepore

7 July 2018

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alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia

7 July 2018

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Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes

7 July 2018

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

7 July 2018

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

21 January 2018

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Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

21 January 2018

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

21 January 2018

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Unexpected relationships between four large deletions in the human beta-globin gene cluster.

21 January 2018

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By searching processively RecA protein pairs DNA molecules that share a limited stretch of homology.

21 January 2018

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ALPHA GLOBIN GENOTYPES IN TWO NORTH EUROPEAN POPULATIONS

21 January 2018

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Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

21 January 2018

2 references

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21 January 2018

https://pubmed.ncbi.nlm.nih.gov/16709669

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Complex gene conversion events in germline mutation at human minisatellites

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0602690103

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1482541

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

9 December 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0602690103

Recombination hotspot in NF1 microdeletion patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0602690103

Repeat unit sequence variation in minisatellites: a novel source of DNA polymorphism for studying variation and mutation by single molecule analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0602690103

21 January 2018

Identifiers

DOI

10.1073/PNAS.0602690103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16709669%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

0 references

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21 January 2020

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