(Q38762894)

6 September 2017

title

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (English)

1 reference

PIK3CA-related overgrowth spectrum

6 September 2017

main subject

1 reference

1

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11 June 2020

Virginie Quéré

5

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11 June 2020

Arthur Sorlin

7

1 reference

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11 June 2020

Juliette Albuisson

9

1 reference

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11 June 2020

Jeanne Amiel

10

1 reference

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11 June 2020

Tania Attié-Bitach

13

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11 June 2020

Nadia Bahi-Buisson

14

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11 June 2020

Sébastien Barbarot

15

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11 June 2020

Valérie Cormier-Daire

23

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11 June 2020

Patrick Edery

26

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11 June 2020

David Geneviève

29

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11 June 2020

A Goldenberg

30

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11 June 2020

Marie-Line Jacquemont

33

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11 June 2020

Didier Lacombe

35

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11 June 2020

Jelena Martinovic

37

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11 June 2020

Michèle Mathieu-Dramard

39

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11 June 2020

Caroline Michot

41

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11 June 2020

Cyril Mignot

42

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11 June 2020

Juliette Miquel

43

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11 June 2020

Fanny Morice-Picard

44

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11 June 2020

Florence Petit

45

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11 June 2020

Alice Phan

46

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11 June 2020

Massimiliano Rossi

47

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11 June 2020

Marie Vincent

50

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11 June 2020

Daphné Lehalle

55

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11 June 2020

Smail Hadj-rabia

58

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11 June 2020

Christel Thauvin-Robinet

59

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11 June 2020

Pierre Vabres

61

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11 June 2020

Jean-Baptiste Rivière

62

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11 June 2020

38

Annabel Maruani

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Juliette Mazereeuw-Hautier

11 June 2020

40

object named as

Juliette Mazereeuw-Hautier

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11 June 2020

22

Christine Chiaverini

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11 June 2020

60

Laurence Faivre

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11 June 2020

Christel Thauvin-Robinet

57

object named as

Christel Thauvin-Robinet

1 reference

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11 June 2020

49

Alain Verloes

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11 June 2020

author name string

Judith St-Onge

2

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11 June 2020

Yannis Duffourd

3

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11 June 2020

Jean-Benoît Courcet

4

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11 June 2020

Thibaud Jouan

6

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11 June 2020

Claire Abasq-Thomas

8

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11 June 2020

Daniel Amram

11

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11 June 2020

Stéphanie Arpin

12

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11 June 2020

Geneviève Baujat

16

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11 June 2020

Didier Bessis

17

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11 June 2020

Olivia Boccara

18

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11 June 2020

Maryse Bonnière

19

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11 June 2020

Odile Boute

20

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11 June 2020

Anne-Claire Bursztejn

21

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11 June 2020

Christine Coubes

24

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11 June 2020

Bruno Delobel

25

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11 June 2020

Salima El Chehadeh

27

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11 June 2020

Christine Francannet

28

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11 June 2020

Damien Haye

31

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11 June 2020

Bertrand Isidor

32

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11 June 2020

Philippe Khau Van Kien

34

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11 June 2020

Ludovic Martin

36

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11 June 2020

Renaud Touraine

48

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11 June 2020

Catherine Vincent-Delorme

51

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11 June 2020

Sandra Whalen

52

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11 June 2020

Marjolaine Willems

53

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11 June 2020

Nathalie Marle

54

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11 June 2020

Julien Thevenon

56

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11 June 2020

language of work or name

English

0 references

publication date

2 February 2017

1 reference

6 September 2017

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11 June 2020

volume

19

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11 June 2020

issue

9

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11 June 2020

page(s)

989-997

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https://scigraph.springernature.com/pub.10.1038/gim.2016.220

11 June 2020

exact match

0 references

cites work

A genomic view of mosaicism and human disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

An activating mutation of AKT2 and human hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Mutational landscape and significance across 12 major cancer types

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Comprehensive molecular portraits of human breast tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Preparation of next-generation sequencing libraries using Nextera™ technology: simultaneous DNA fragmentation and adaptor tagging by in vitro transposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Trimmomatic: a flexible trimmer for Illumina sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Proteus syndrome: Misdiagnosis with PTEN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Decoding cell lineage from acquired mutations using arbitrary deep sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

Phosphoinositide 3-kinase-related overgrowth: cellular phenotype and future therapeutic options

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.220

21 January 2018

Identifiers

DOI

10.1038/GIM.2016.220

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28151489%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference