(Q41778761)

English

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

scientific article published on October 14, 2003

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scholarly article

1 reference

Europe PubMed Central

9 October 2017

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity (English)

1 reference

Europe PubMed Central

9 October 2017

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

1 reference

https://api.crossref.org/works/10.1086/379155

21 March 2024

fluorescence in situ hybridization

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

1 reference

https://api.crossref.org/works/10.1086/379155

21 March 2024

author name string

S. E. Roberts

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

F. Maggouta

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

N. S. Thomas

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

P. A. Jacobs

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

J. A. Crolla

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

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publication date

14 October 2003

1 reference

Europe PubMed Central

9 October 2017

full work available at URL

http://www.cell.com/article/S0002929707619697/pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

https://europepmc.org/articles/PMC1180486

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

https://europepmc.org/articles/PMC1180486?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560400

21 March 2024

https://api.elsevier.com/content/article/PII:S0002929707619697?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1086/379155

21 March 2024

https://api.elsevier.com/content/article/PII:S0002929707619697?httpAccept=text/plain

1 reference

https://api.crossref.org/works/10.1086/379155

21 March 2024

American Journal of Human Genetics

1 reference

Europe PubMed Central

9 October 2017

73

1 reference

Europe PubMed Central

9 October 2017

1061-1072

1 reference

Europe PubMed Central

9 October 2017

5

1 reference

Europe PubMed Central

9 October 2017

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=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 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=1180486

6 June 2018

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 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=1180486

6 June 2018

Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 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=1180486

6 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=1180486

6 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=1180486

6 June 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 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=1180486

6 June 2018

Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

The origin and behavior of two isodicentric bisatellited chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

6 June 2018

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

18 August 2018

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

18 August 2018

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

18 August 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=1180486

18 August 2018

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

18 August 2018

Maternal origin of inv dup(15) chromosomes in infantile autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180486

18 August 2018

Segregation of a supernumerary del(15) marker chromosome in sperm

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal origin of a small, class I inv dup(15)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14560400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

9 October 2017

1 reference

Europe PubMed Central

9 October 2017

1 reference

Europe PubMed Central

9 October 2017

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