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Molecular-evolutionary mechanisms for genomic disorders
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Molecular-evolutionary mechanisms for genomic disorders
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
author
James R. Lupski
series ordinal
2
object named as
James R Lupski
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
Pawel Stankiewicz
series ordinal
1
object named as
Pawel Stankiewicz
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
publication date
1 June 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
volume
12
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
page(s)
312-319
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
cites work
Evolutionary analyses of the human genome
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Crossref
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Initial sequencing and analysis of the human genome
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Biased distribution of inverted and direct Alus in the human genome: implications for insertion, exclusion, and genome stability.
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The Sequence of the Human Genome
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7 January 2021
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Segmental duplications: what's missing, misassigned, and misassembled--and should we care?
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reference URL
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7 January 2021
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Genome architecture, rearrangements and genomic disorders
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reference URL
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Recent duplication, domain accretion and the dynamic mutation of the human genome
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7 January 2021
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Segmental duplications: organization and impact within the current human genome project assembly
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Integration of cytogenetic landmarks into the draft sequence of the human genome
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Crossref
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7 January 2021
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Segmental duplications and the evolution of the primate genome
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reference URL
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7 January 2021
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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
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.
1 reference
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Crossref
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7 January 2021
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Birth of two chimeric genes in the Hominidae lineage.
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7 January 2021
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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Pathological consequences of sequence duplications in the human genome
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7 January 2021
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Structure of chromosomal duplicons and their role in mediating human genomic disorders
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Molecular mechanisms for constitutional chromosomal rearrangements in humans
1 reference
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Crossref
reference URL
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7 January 2021
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Segmental duplications: an 'expanding' role in genomic instability and disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
1 reference
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7 January 2021
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High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot
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7 January 2021
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Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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inferred from DOI database lookup
Recombination hotspot in NF1 microdeletion patients
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7 January 2021
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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
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.
1 reference
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Crossref
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7 January 2021
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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
1 reference
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7 January 2021
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Limited contribution of interchromosomal gene conversion to NF1 gene mutation
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7 January 2021
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Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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Sequence Variability of a Human Pseudogene
1 reference
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Crossref
reference URL
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7 January 2021
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The double-strand-break repair model for recombination
1 reference
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Crossref
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7 January 2021
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Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Gene conversion homogenizes the CMT1A paralogous repeats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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Meiosis-induced double-strand break sites determined by yeast chromatin structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of mariner DNA transposons in the human genome by PRINS
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes
1 reference
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7 January 2021
based on heuristic
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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms for CMT1A duplication and HNPP deletion
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene and genome duplication
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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Computational identification of operons in microbial genomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolutionary breakpoints on human chromosome 21
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic differences between humans and great apes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Positive selection of a gene family during the emergence of humans and African apes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Chromosome breaks and genomic instability
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
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7 January 2021
based on heuristic
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0959-437X(02)00304-0
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
PubMed ID
12076675
1 reference
stated in
Europe PubMed Central
PubMed ID
12076675
retrieved
4 August 2017
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