(Q33708568)

English

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

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scholarly article

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Europe PubMed Central

28 July 2017

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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS (English)

1 reference

Europe PubMed Central

28 July 2017

object named as

Feng Zhang

1

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James R. Lupski

12

object named as

James R Lupski

1 reference

Europe PubMed Central

28 July 2017

Patricia Robbins-Furman

6

object named as

Patricia Robbins-Furman

1 reference

Europe PubMed Central

28 July 2017

author name string

Lorraine Potocki

2

1 reference

Europe PubMed Central

28 July 2017

Jacinda B Sampson

3

1 reference

Europe PubMed Central

28 July 2017

Pengfei Liu

4

1 reference

Europe PubMed Central

28 July 2017

Amarilis Sanchez-Valle

5

1 reference

Europe PubMed Central

28 July 2017

Alicia Delicado Navarro

7

1 reference

Europe PubMed Central

28 July 2017

Patricia G Wheeler

8

1 reference

Europe PubMed Central

28 July 2017

J Edward Spence

9

1 reference

Europe PubMed Central

28 July 2017

Campbell K Brasington

10

1 reference

Europe PubMed Central

28 July 2017

Marjorie A Withers

11

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Europe PubMed Central

28 July 2017

language of work or name

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publication date

25 February 2010

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Europe PubMed Central

28 July 2017

American Journal of Human Genetics

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Europe PubMed Central

28 July 2017

86

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Europe PubMed Central

28 July 2017

462-470

1 reference

Europe PubMed Central

28 July 2017

3

1 reference

Europe PubMed Central

28 July 2017

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Prdm9 controls activation of mammalian recombination hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Mechanisms of change in gene copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Complex human chromosomal and genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Mechanisms for human genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

The mechanism of human nonhomologous DNA end joining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Alu recombination-mediated structural deletions in the chimpanzee genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Serial segmental duplications during primate evolution result in complex human genome architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Recent segmental duplications in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Mild phenotype due to tandem duplication of l7p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

28 July 2018

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

A common sequence motif associated with recombination hot spots and genome instability in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

New insights into the biological basis of genomic disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Human genomic deletions mediated by recombination between Alu elements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

A girl with duplication 17p10-p12 associated with a dicentric chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Complex gene rearrangements caused by serial replication slippage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833368

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20188345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20188345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.02.001

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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