Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome (Q21261463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

main subject

Prader–Willi syndrome

1 reference

2

Mohammed Albalwi

Mohammed

Albalwi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

7

R J McKinlay

Gardner

R J McKinlay Gardner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Birgitt Schüle

1

Birgitt

Schüle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Emma Northrop

3

Emma

Northrop

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

David I Francis

4

David I

Francis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Margaret Rowell

5

Margaret

Rowell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Howard R Slater

6

Howard R

Slater

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Uta Francke

8

Uta

Francke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

language of work or name

English

0 references

publication date

6 May 2005

1 reference

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11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

6

1 reference

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11 January 2020

issue

1

0 references

page(s)

18

1 reference

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https://scigraph.springernature.com/pub.10.1186/1471-2350-6-18

11 January 2020

exact match

0 references

cites work

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

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Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

19 March 2017

1 reference

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Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

19 March 2017

1 reference

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An imprinted, mammalian bicistronic transcript encodes two independent proteins

19 March 2017

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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

19 March 2017

1 reference

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Prader-Willi syndrome is caused by disruption of the SNRPN gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

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

19 March 2017

1 reference

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Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

19 March 2017

1 reference

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A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands

19 March 2017

1 reference

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Complete sequencing and characterization of 21,243 full-length human cDNAs

19 March 2017

1 reference

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Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

19 March 2017

1 reference

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Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions

19 March 2017

1 reference

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The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

19 March 2017

1 reference

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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

19 March 2017

1 reference

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Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays

19 March 2017

1 reference

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The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

19 March 2017

1 reference

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Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

19 March 2017

1 reference

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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

19 March 2017

1 reference

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19 March 2017

1 reference

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Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

22 April 2017

1 reference

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Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream

12 September 2017

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The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

12 September 2017

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

12 September 2017

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Prader-Willi syndrome: consensus diagnostic criteria.

12 September 2017

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Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Chi activity during transduction-associated recombination

12 September 2017

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One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

12 September 2017

1 reference

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An improved PCR method for walking in uncloned genomic DNA.

27 September 2017

1 reference

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DNA deletion and its parental origin in Angelman syndrome patients

27 September 2017

1 reference

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Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Methylation-specific PCR simplifies imprinting analysis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Base sequence studies of 300 nucleotide renatured repeated human DNA clones.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1142316

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-18

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-18

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-18

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-18

Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3-->q21

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15877813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-6-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 January 2020

1049758281

0 references

Fatcat ID

release_6ffldbwfizc3fcpiscogknzd6e

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6ffldbwfizc3fcpiscogknzd6e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15877813%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference