(Q44103084)

29 November 2017

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). (English)

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29 November 2017

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Smith-Magenis syndrome

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3

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29 November 2017

7

James R Lupski

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29 November 2017

Ann C M Smith

1

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29 November 2017

Andrea L Gropman

2

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29 November 2017

Ozlem Goker-Alpan

4

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29 November 2017

Sarah H Elsea

5

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29 November 2017

Jan Blancato

6

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29 November 2017

Lorraine Potocki

8

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29 November 2017

language of work or name

English

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publication date

1 May 2002

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29 November 2017

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29 November 2017

4

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29 November 2017

3

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29 November 2017

118-125

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https://scigraph.springernature.com/pub.10.1097/00125817-200205000-00004

29 November 2017

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cites work

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

A receptor-mediated pathway for cholesterol homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Regulation of the mevalonate pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Distributions and trends of serum lipid levels among United States children and adolescents ages 4-19 years: data from the Third National Health and Nutrition Examination Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00004

10.1097/00125817-200205000-00004

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

29 November 2017

1003111306

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Fatcat ID

release_66k6lonfvnhuvdoq3gpeckvtda

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/66k6lonfvnhuvdoq3gpeckvtda

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference