(Q34829468)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Jonathan S Berg

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Marwan Shinawi

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

22

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

17

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

12

Elizabeth R Roeder

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

21

Sau Wai Cheung

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

11

V Reid Sutton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

15

Siddharth K Prakash

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

20

Ankita Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

9

Patricia A Eng

1 reference

23 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

Pengfei Liu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Ayelet Erez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Sandesh C Sreenath Nagamani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Weimin Bi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Claudia M B Carvalho

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Alexandra D Simmons

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Joanna Wiszniewska

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Ping Fang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

M Lance Cooper

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

John B Bodensteiner

13

1 reference

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23 January 2020

Mauricio R Delgado

14

1 reference

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23 January 2020

publication date

25 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

1975-1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Detection of clinically relevant exonic copy-number changes by array CGH.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Prdm9 controls activation of mammalian recombination hotspots

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Modulation of neuritogenesis by a protein implicated in X-linked mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Complex human chromosomal and genomic rearrangements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Increased LIS1 expression affects human and mouse brain development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

A genome-wide survey of structural variation between human and chimpanzee

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

The DNA sequence of the human X chromosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Genome architecture, rearrangements and genomic disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

X-linked ichthyosis: an update

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Hypervariable 'minisatellite' regions in human DNA.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Variable number of tandem repeat (VNTR) markers for human gene mapping

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3080608

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

26 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

Structural variation in the human genome

1 reference

12 December 2020

Challenges in clinical interpretation of microduplications detected by array CGH analysis

1 reference

12 December 2020

Chemical probing of the homopurine.homopyrimidine tract in supercoiled DNA at single-nucleotide resolution

1 reference

12 December 2020

Protonated polypurine/polypyrimidine DNA tracts that appear to lack the single-stranded pyrimidine loop predicted by the "H" model

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR078

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21355048%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference