Genome architecture, rearrangements and genomic disorders (Q29614721)

Europe PubMed Central

title

Genome architecture, rearrangements and genomic disorders (English)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

author name string

Stankiewicz P

series ordinal

1

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

Lupski JR

series ordinal

2

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

language of work or name

1 reference

30 April 2017

publication date

February 2002

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

volume

18

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

issue

2

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

page(s)

74-82

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

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

30 April 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Pathological consequences of sequence duplications in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

An evaluation of the draft human genome sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Studies on nucleic acid reassociation kinetics: empirical equations describing DNA reassociation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

CAGGG repeats and the pericentromeric duplication of the hominoid genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Localization of mariner DNA transposons in the human genome by PRINS

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Sequence Variability of a Human Pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

The origins of V(D)J recombination

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Sex-dependent rearrangements resulting in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

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%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

The complete human olfactory subgenome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021

BACking up the promises

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2802%2902592-1

7 January 2021