(Q34384983)

1 August 2017

title

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

1 reference

1 August 2017

A E Wandstrat

1

1 reference

1 August 2017

J Leana-Cox

series ordinal

2

1 reference

1 August 2017

L Jenkins

series ordinal

3

1 reference

1 August 2017

S Schwartz

series ordinal

4

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1 August 2017

language of work or name

English

0 references

publication date

1 April 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

62

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1 August 2017

issue

4

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1 August 2017

page(s)

925-936

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Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

An STS-based map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Clinical and molecular analysis of five inv dup(15) patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Regional localization of human chromosome 15 loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Extra dicentric 15 pter leads to q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Forty four probands with an additional "marker" chromosome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Genomic imprinting: review and relevance to human diseases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Identification of a marker chromosome as inv dup(15) by molecular analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

The origin and behavior of two isodicentric bisatellited chromosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Cytogenetic and clinical studies in five cases of inv dup(15)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Chromosome survey of total population of mentally subnormal in North-East of Scotland

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377019

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

27 October 2018

1 reference

12 December 2020

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

1 reference

12 December 2020

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11–q13

1 reference

12 December 2020

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

1 reference

12 December 2020

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

1 reference

12 December 2020

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1 reference

12 December 2020

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

1 reference

12 December 2020

Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter

1 reference

12 December 2020

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

12 December 2020

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

1 reference

12 December 2020

Identifiers

DOI

10.1086/301777

1 reference

1 August 2017

1 reference

1 August 2017

1 reference