(Q33287971)

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Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

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Europe PubMed Central

PubMed publication ID

25 July 2017

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

author name string

Andrew J Makoff

1

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Rachel H Flomen

2

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

publication date

1 January 2007

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

R114

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Global variation in copy number 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=2394762

21 June 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Primate segmental duplications: crucibles of evolution, diversity and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Analysis of the DNA sequence and duplication history of human chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Segmental duplications and copy-number variation 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=2394762

21 June 2018

Large-scale copy number polymorphism 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=2394762

21 June 2018

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Molecular-evolutionary mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Neuronal nicotinic acetylcholine receptors: from the gene to the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Forty four probands with an additional "marker" chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

21 June 2018

Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

31 October 2018

Haplotype transmission disequilibrium and evidence for linkage of the CHRNA7 gene region to schizophrenia in Southern African Bantu families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

31 October 2018

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

31 October 2018

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2394762

31 October 2018

Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH genetics initiative

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

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Schizophrenia and smoking: evidence for a common neurobiological basis?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

based on heuristic

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Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

based on heuristic

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Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

based on heuristic

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Analysis of the centromeric regions of the human genome assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

based on heuristic

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Diminished Suppression of the P50 Auditory Evoked Potential in Bipolar Disorder Subjects With a History of Psychosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

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Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17573966

12 December 2020

based on heuristic

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Identifiers

10.1186/GB-2007-8-6-R114

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

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