Molecular-evolutionary mechanisms for genomic disorders (Q34699430)

4 August 2017

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title

Molecular-evolutionary mechanisms for genomic disorders (English)

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4 August 2017

2

James R Lupski

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4 August 2017

1

Pawel Stankiewicz

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4 August 2017

publication date

1 June 2002

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Current Opinion in Genetics & Development

4 August 2017

published in

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4 August 2017

volume

12

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4 August 2017

issue

3

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4 August 2017

page(s)

312-319

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Evolutionary analyses of the human genome

4 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Initial sequencing and analysis of the human genome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Biased distribution of inverted and direct Alus in the human genome: implications for insertion, exclusion, and genome stability.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

The Sequence of the Human Genome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Segmental duplications: what's missing, misassigned, and misassembled--and should we care?

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Genome architecture, rearrangements and genomic disorders

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Recent duplication, domain accretion and the dynamic mutation of the human genome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Segmental duplications: organization and impact within the current human genome project assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Integration of cytogenetic landmarks into the draft sequence of the human genome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Segmental duplications and the evolution of the primate genome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Birth of two chimeric genes in the Hominidae lineage.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Pathological consequences of sequence duplications in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Structure of chromosomal duplicons and their role in mediating human genomic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Limited contribution of interchromosomal gene conversion to NF1 gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Sequence Variability of a Human Pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

The double-strand-break repair model for recombination

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Gene conversion homogenizes the CMT1A paralogous repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Meiosis-induced double-strand break sites determined by yeast chromatin structure

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Localization of mariner DNA transposons in the human genome by PRINS

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Molecular mechanisms for CMT1A duplication and HNPP deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Gene and genome duplication

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Computational identification of operons in microbial genomes

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Evolutionary breakpoints on human chromosome 21

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Genetic differences between humans and great apes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Positive selection of a gene family during the emergence of humans and African apes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Chromosome breaks and genomic instability

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900304-0

7 January 2021

10.1016/S0959-437X(02)00304-0

Identifiers

DOI

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4 August 2017

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