A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism (Q24655126)

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English	A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism	scientific article

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instance of

scholarly article

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title

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism (English)

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main subject

obesity

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hypogonadism

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based on heuristic

inferred from title

author

Philippe Froguel

series ordinal

14

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Robin G Walters

object named as

Robin G Walters

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3

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Stephen O'Rahilly

object named as

Stephen O'Rahilly

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13

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Mehul T Dattani

series ordinal

9

object named as

Mehul Dattani

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author name string

Adam J de Smith

series ordinal

1

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Carolin Purmann

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2

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Richard J Ellis

series ordinal

4

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Susan E Holder

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5

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Mieke M Van Haelst

series ordinal

6

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Angela F Brady

series ordinal

7

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Una L Fairbrother

series ordinal

8

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Julia M Keogh

series ordinal

10

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Elana Henning

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11

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Giles S H Yeo

series ordinal

12

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I Sadaf Farooqi

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15

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Alexandra I F Blakemore

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16

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language of work or name

English

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publication date

1 September 2009

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published in

Human Molecular Genetics

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volume

18

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issue

17

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page(s)

3257-65

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cites work

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

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SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

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

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PubMed Central

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7 April 2017

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

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7 April 2017

Sno storm in the nucleolus: new roles for myriad small RNPs

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Is obesity our genetic legacy?

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28 September 2017

Small deletion variants have stable breakpoints commonly associated with alu elements.

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

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PubMed Central

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Genetics of body-weight regulation

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

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28 September 2017

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

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PubMed Central

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28 September 2017

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

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PubMed Central

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28 September 2017

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The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints

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30 May 2018

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

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Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

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Crossref

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https://api.crossref.org/works/10.1093%2FHMG%2FDDP263

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21 January 2018

ALL-1 tandem duplication in acute myeloid leukemia with a normal karyotype involves homologous recombination between Alu elements.

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retrieved

28 November 2018

Identifiers

DOI

10.1093/HMG/DDP263

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4582307

Fatcat ID

release_qsj24gxu4vgltoyb7t3urrbtlu

1 reference

stated in

Fatcat

reference URL

https://api.fatcat.wiki/v0/release/qsj24gxu4vgltoyb7t3urrbtlu

retrieved

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

4582307

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4582307

PMC publication ID

2722987

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4582307

PubMed publication ID

19498035

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4582307

ResearchGate publication ID

26268255

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