(Q50346493)

English

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

scientific article published on 23 July 2008

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scholarly article

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. (English)

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

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http://europepmc.org/abstract/MED/18648397

Renato Borgatti

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http://europepmc.org/abstract/MED/18648397

author name string

Maria Clara Bonaglia

1

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Roberto Ciccone

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Europe PubMed Central

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http://europepmc.org/abstract/MED/18648397

Giorgio Gimelli

3

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Stefania Gimelli

4

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Susan Marelli

5

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Europe PubMed Central

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http://europepmc.org/abstract/MED/18648397

Joke Verheij

6

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http://europepmc.org/abstract/MED/18648397

Rita Grasso

8

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Filomena Pagone

10

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Europe PubMed Central

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http://europepmc.org/abstract/MED/18648397

Laura Rodrìguez

11

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Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Maria-Luisa Martinez-Frias

12

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Europe PubMed Central

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http://europepmc.org/abstract/MED/18648397

Conny van Ravenswaaij

13

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

Orsetta Zuffardi

14

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http://europepmc.org/abstract/MED/18648397

publication date

23 July 2008

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http://europepmc.org/abstract/MED/18648397

European Journal of Human Genetics

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http://europepmc.org/abstract/MED/18648397

16

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http://europepmc.org/abstract/MED/18648397

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http://europepmc.org/abstract/MED/18648397

1443-1449

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http://europepmc.org/abstract/MED/18648397

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.119

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De novo interstitial deletion q16.2q21 on chromosome 6.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Prader-Willi-like syndrome in a patient with an Xq23q25 duplication

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Identification and characterization of a second melanin-concentrating hormone receptor, MCH-2R

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Linkage and association of the glutamate receptor 6 gene with autism

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

21 January 2018

6q1 monosomy: a distinctive syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

7 January 2021

based on heuristic

inferred from DOI database lookup

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.119

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2008.119

1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

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1 reference

Europe PubMed Central

5 March 2018

http://europepmc.org/abstract/MED/18648397

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