(Q24539092)

English

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Angelman syndrome

1 reference

based on heuristic

inferred from title

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

author name string

Lee S

1

author given names

S

author last names

Lee

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Wevrick R

2

author given names

R

author last names

Wevrick

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

language of work or name

0 references

publication date

1 March 2000

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

66

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

848-858

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

https://api.crossref.org/works/10.1086%2F302817

7 January 2021

based on heuristic

inferred from DOI database lookup

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

A mouse model for Prader-Willi syndrome imprinting-centre mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

A Gene Map 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=1288168

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

Disruption of the mouse necdin gene results in early post-natal lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

24 March 2017

dbEST--database for "expressed sequence tags"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

7 April 2017

Angelman syndrome: how many genes to remain silent?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

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=1288168

27 September 2017

Tsix, a gene antisense to Xist at the X-inactivation centre

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

A model system to study genomic imprinting of human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

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=1288168

27 September 2017

Competition--a common motif for the imprinting mechanism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

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=1288168

27 September 2017

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

DNA deletion and its parental origin in Angelman syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

27 September 2017

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Imprinting mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Imprinting mechanisms in mammals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Structure and function of the human chromosome 15 imprinting center

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

30 May 2018

Neuroendocrine protein 7B2 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=1288168

30 May 2018

Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

The sins of the fathers and mothers: genomic imprinting in mammalian development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

Imprinting in Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288168

29 November 2018

Assignment of the gene for neuroendocrine protein 7B2 (SGNE1 locus) to mouse chromosome region 2[E3–F3] and to human chromosome region 15q11-q15

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How many genes in the human genome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ESTablishing a human transcript map

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome maps 7. The human transcript map. Wall chart

1 reference

https://api.crossref.org/works/10.1086%2F302817

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

release_qlern73tkvab7bx3htzdzak2dy

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

ResearchGate publication ID

0 references

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