(Q33653565)

28 July 2017

title

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. (English)

1 reference

28 July 2017

Jin-Lan Chen

1

1 reference

28 July 2017

Xin Zhu

2

1 reference

28 July 2017

Tian-Li Zhao

3

1 reference

28 July 2017

Jian Wang

4

1 reference

28 July 2017

Yi-Feng Yang

5

1 reference

28 July 2017

Zhi-Ping Tan

6

1 reference

28 July 2017

publication date

16 April 2014

1 reference

28 July 2017

published in

Molecular Cytogenetics

1 reference

28 July 2017

volume

7

1 reference

28 July 2017

page(s)

28

1 reference

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

RASopathies: Clinical Diagnosis in the First Year of Life

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Noonan syndrome and clinically related disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Noonan syndrome: clinical aspects and molecular pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Noonan syndrome: a case report and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

A restricted spectrum of NRAS mutations causes Noonan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Noonan syndrome and related disorders: genetics and pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-28

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-28

576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-28

Clinical delineation of a patient with trisomy 12q23q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-28

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4031927

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24739123

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24739123

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-7-28

1 reference

release_3wgpjy5adbf6hhkn5t73a55uaq

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3wgpjy5adbf6hhkn5t73a55uaq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4031927

1 reference

28 July 2017

1 reference