Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits (Q35875197)

10 August 2017

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title

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits (English)

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10 August 2017

Stankiewicz P

1

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10 August 2017

Inoue K

2

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10 August 2017

Bi W

3

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10 August 2017

Walz K

4

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10 August 2017

Park SS

5

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10 August 2017

Kurotaki N

6

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10 August 2017

Shaw CJ

7

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10 August 2017

Fonseca P

8

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10 August 2017

Yan J

9

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10 August 2017

Lee JA

10

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10 August 2017

Khajavi M

11

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10 August 2017

Lupski JR

12

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10 August 2017

1 January 2003

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Cold Spring Harbor Symposia on Quantitative Biology

10 August 2017

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10 August 2017

68

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10 August 2017

445-454

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

10 August 2017

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Majority of divergence between closely related DNA samples is due to indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

A human genome diversity cell line panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

AT-rich palindromes mediate the constitutional t(11;22) translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Human genes encoding U3 snRNA associate with coiled bodies in interphase cells and are clustered on chromosome 17p11.2 in a complex inverted repeat structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Gene conversion homogenizes the CMT1A paralogous repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Molecular mechanisms for genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Genetics and genomics of behavioral and psychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

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https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Initial sequencing and analysis of the human genome

21 January 2018

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https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Chromosome engineering in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Segmental duplications and the evolution of the primate genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Molecular-evolutionary mechanisms for genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

Implications of natural selection in shaping 99.4% nonsynonymous DNA identity between humans and chimpanzees: enlarging genus Homo

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

21 January 2018

A singular chromosome

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https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

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

1 reference

https://api.crossref.org/works/10.1101%2FSQB.2003.68.445

21 January 2018

Identifiers

DOI

10.1101/SQB.2003.68.445

1 reference

10 August 2017

1 reference