(Q37248504)

19 August 2017

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

1 reference

19 August 2017

46

Raoul Hennekam

0 references

Hilde Van Esch

52

object named as

Hilde Van Esch

1 reference

19 August 2017

Margaret McKinnon

34

0 references

Jay Shendure

57

object named as

Jay Shendure

1 reference

19 August 2017

60

William B Dobyns

1 reference

19 August 2017

59

Renzo Guerrini

1 reference

19 August 2017

5

Katta M Girisha

1 reference

19 August 2017

35

Marie-Claude Addor

1 reference

19 August 2017

55

Anne Goriely

1 reference

19 August 2017

50

Karen W Gripp

1 reference

19 August 2017

9

Jane Juusola

1 reference

19 August 2017

4

Evan August Boyle

1 reference

19 August 2017

Ghayda Mirzaa

1

1 reference

19 August 2017

Andrew E Timms

2

1 reference

19 August 2017

Valerio Conti

3

1 reference

19 August 2017

Beth Martin

6

1 reference

19 August 2017

Martin Kircher

7

1 reference

19 August 2017

Carissa Olds

8

1 reference

19 August 2017

Sarah Collins

10

1 reference

19 August 2017

Kaylee Park

11

1 reference

19 August 2017

Melissa Carter

12

1 reference

19 August 2017

Ian Glass

13

1 reference

19 August 2017

Inge Krägeloh-Mann

14

1 reference

19 August 2017

David Chitayat

15

1 reference

19 August 2017

Aditi Shah Parikh

16

1 reference

19 August 2017

Rachael Bradshaw

17

1 reference

19 August 2017

Erin Torti

18

1 reference

19 August 2017

Stephen Braddock

19

1 reference

19 August 2017

Leah Burke

20

1 reference

19 August 2017

Sondhya Ghedia

21

1 reference

19 August 2017

Mark Stephan

22

1 reference

19 August 2017

Fiona Stewart

23

1 reference

19 August 2017

Chitra Prasad

24

1 reference

19 August 2017

Melanie Napier

25

1 reference

19 August 2017

Sulagna Saitta

26

1 reference

19 August 2017

Rachel Straussberg

27

1 reference

19 August 2017

Michael Gabbett

28

1 reference

19 August 2017

Bridget C O'Connor

29

1 reference

19 August 2017

Catherine E Keegan

30

1 reference

19 August 2017

Lim Jiin Yin

31

1 reference

19 August 2017

Angeline Hwei Meeng Lai

32

1 reference

19 August 2017

Nicole Martin

33

1 reference

19 August 2017

Luigi Boccuto

36

1 reference

19 August 2017

Charles E Schwartz

37

1 reference

19 August 2017

Agustina Lanoel

38

1 reference

19 August 2017

Robert L Conway

39

1 reference

19 August 2017

Koenraad Devriendt

40

1 reference

19 August 2017

Katrina Tatton-Brown

41

1 reference

19 August 2017

Mary Ella Pierpont

42

1 reference

19 August 2017

Michael Painter

43

1 reference

19 August 2017

Lisa Worgan

44

1 reference

19 August 2017

James Reggin

45

1 reference

19 August 2017

Karen Tsuchiya

47

1 reference

19 August 2017

Colin C Pritchard

48

1 reference

19 August 2017

Mariana Aracena

49

1 reference

19 August 2017

Maria Cordisco

51

1 reference

19 August 2017

Livia Garavelli

53

1 reference

19 August 2017

Cynthia Curry

54

1 reference

19 August 2017

Hulya Kayserilli

56

1 reference

19 August 2017

John Graham

58

1 reference

19 August 2017

1 June 2016

1 reference

19 August 2017

1 reference

19 August 2017

1

1 reference

19 August 2017

9

1 reference

Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Somatic Activating PIK3CA Mutations Cause Venous Malformation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

PIK3CA activating mutations in facial infiltrating lipomatosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

ACMG clinical laboratory standards for next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

A genomic view of mosaicism and human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Accurate and exact CNV identification from targeted high-throughput sequence data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Rare cancer-specific mutations in PIK3CA show gain of function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Oncogenic PI3K and its role in cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

PTEN: one gene, many syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Vascular abnormalities in epidermal nevus syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Macrocephaly in association with unusual cutaneous angiomatosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

The categories of cutaneous mosaicism: A proposed classification.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

A proposal for classification of entities combining vascular malformations and deregulated growth.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5019182

Linear nevus sebaceous syndrome

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27631024

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromosomal mosaicism and mongolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27631024

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI.INSIGHT.87623

0 references

1 reference

19 August 2017

PubMed publication ID

27631024

1 reference