Genome architecture, rearrangements and genomic disorders (Q29614721)

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

1 reference

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

30 April 2017

Lupski JR

series ordinal

2

1 reference

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

30 April 2017

publication date

February 2002

1 reference

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

1 reference

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

30 April 2017

volume

18

1 reference

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

30 April 2017

issue

2

1 reference

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

publication type of scholarly work

30 April 2017

review article

1 reference

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

Europe PubMed Central

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Pathological Consequences of Sequence Duplications in the Human Genome

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

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CAGGG repeats and the pericentromeric duplication of the hominoid genome

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

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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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Recombination hotspot in NF1 microdeletion patients

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7 January 2021

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

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7 January 2021

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

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7 January 2021

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

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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

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Localization of mariner DNA transposons in the human genome by PRINS

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

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Sequence Variability of a Human Pseudogene

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7 January 2021

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

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7 January 2021

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

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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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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

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7 January 2021

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

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7 January 2021

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

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7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

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7 January 2021

The origins of V(D)J recombination

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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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

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

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

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Sex-dependent rearrangements resulting in CMT1A and HNPP.

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

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7 January 2021

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

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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).

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7 January 2021

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

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7 January 2021

Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The complete human olfactory subgenome

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7 January 2021

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

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7 January 2021

BACking up the promises

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7 January 2021