(Q24608709)

4

0 references

Ryan Neff

1 reference

ORCID Public Data File 2021

author name string

Kyle C Kurek

1

0 references

Valerie L Luks

2

0 references

Ugur M Ayturk

3

0 references

Steven J Fishman

5

0 references

Samantha A Spencer

6

0 references

John B Mulliken

7

0 references

Guilherme L Yamamoto

9

0 references

Harry P W Kozakewich

10

0 references

Matthew L Warman

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

8 June 2012

0 references

published in

0 references

volume

90

0 references

issue

6

0 references

page(s)

1108-15

0 references

cites work

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Construction of normalized RNA-seq libraries for next-generation sequencing using the crab duplex-specific nuclease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

High frequency of mutations of the PIK3CA gene in human cancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

An activating mutation of AKT2 and human hypoglycemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

PI3K: a potential therapeutic target for cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Kit-Shp2-Kit signaling acts to maintain a functional hematopoietic stem and progenitor cell pool

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Constitutively active AKT depletes hematopoietic stem cells and induces leukemia in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

McCune-Albright syndrome and disorders due to activating mutations of GNAS1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Cancer-specific mutations in PIK3CA are oncogenic in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Somatic activation of AKT3 causes hemispheric developmental brain malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Cooperation between Pik3ca and p53 mutations in mouse mammary tumor formation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370283

Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

Klippel-Trenaunay syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

CLOVE(S) syndrome: expanding the acronym

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2012.05.006

1 reference

release_re3paml2qvhp7jreiyvp5xljuu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/re3paml2qvhp7jreiyvp5xljuu

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

22658544

1 reference