Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome - Wikidata - awgldk - TriplyDB

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

http://www.wikidata.org/entity/Q24608709

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Somatic mosaicism in the human genome Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations Somatic mosaicism: implications for disease and transmission genetics Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction Overgrowth Syndromes.New insights into the generation and role of de novo mutations in health and disease Next-Generation Sequencing in Intellectual Disability PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation Somatic Activating PIK3CA Mutations Cause Venous Malformation Proteus syndrome review: molecular, clinical, and pathologic features Genetics of lymphatic anomalies Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Somatic mutation, genomic variation, and neurological disease Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Exome capture from saliva produces high quality genomic and metagenomic data Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Malformations of cortical development: clinical features and genetic causes AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.A somatic MAP3K3 mutation is associated with verrucous venous malformation PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting.Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Assessment of copy number variations in the brain genome of schizophrenia patients.Pediatric lymphatic malformations: evolving understanding and therapeutic options.Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours Phosphoinositide 3-kinase: a new kid on the block in vascular anomalies.Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

http://www.wikidata.org/entity/Q24608709

description

2012 nî lūn-bûn

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2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հունիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@ast

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@en

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@nl

type

label

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@ast

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@en

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@nl

prefLabel

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@ast

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@en

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@nl

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J.AJHG.2012.05.006

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American Journal of Human Genetics

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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

@en

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Guilherme L Yamamoto

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Harry P W Kozakewich

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John B Mulliken

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Kyle C Kurek

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Matthew L Warman

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Samantha A Spencer

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Steven J Fishman

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Ugur M Ayturk

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Valerie L Luks

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P2860

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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

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

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

High frequency of mutations of the PIK3CA gene in human cancers

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

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

Cancer-specific mutations in PIK3CA are oncogenic in vivo

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

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

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1108-15

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scholarly article

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1918471

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10.1016/J.AJHG.2012.05.006

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6

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90

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Ahmad I. Alomari

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2012-06-08T00:00:00Z

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225096920

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22658544

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3370283

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