(Q24598593)

Thomas N Darling

37

0 references

Leslie G Biesecker

40

Leslie G Biesecker

0 references

Kim M Keppler-Noreuil

20

Kim M Keppler-Noreuil

0 references

James C Mullikin

39

James C Mullikin

0 references

author name string

Marjorie J Lindhurst

1

0 references

Julie C Sapp

2

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Jamie K Teer

3

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Jennifer J Johnston

4

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Erin M Finn

5

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Kathryn Peters

6

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Joyce Turner

7

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Jennifer L Cannons

8

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David Bick

9

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Laurel Blakemore

10

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Catherine Blumhorst

11

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Knut Brockmann

12

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Peter Calder

13

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Natasha Cherman

14

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Matthew A Deardorff

15

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David B Everman

16

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Gretchen Golas

17

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Robert M Greenstein

18

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B Maya Kato

19

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Sergei A Kuznetsov

21

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Richard T Miyamoto

22

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Kurt Newman

23

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David Ng

24

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Kevin O'Brien

25

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Steven Rothenberg

26

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Douglas J Schwartzentruber

27

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Virender Singhal

28

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Joseph Upton

30

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Shlomo Wientroub

31

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Elaine H Zackai

32

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Kimberly Hoag

33

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Tracey Whitewood-Neal

34

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Pamela G Robey

35

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Pamela L Schwartzberg

36

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Laura L Tosi

The New England Journal of Medicine

38

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language of work or name

English

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publication date

18 August 2011

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published in

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volume

365

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issue

7

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page(s)

611-9

0 references

cites work

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Akt/Protein kinase B is required for lymphatic network formation, remodeling, and valve development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

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=3170413

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Constitutively active Akt induces ectodermal defects and impaired bone morphogenetic protein signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

The challenges of Proteus syndrome: diagnosis and management

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Impaired platelet responses to thrombin and collagen in AKT-1-deficient 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=3170413

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

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=3170413

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=3170413

Bone vascularization and trabecular bone formation are mediated by PKB alpha/Akt1 in a gene-dosage-dependent manner: in vivo and ex vivo MRI.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Deregulated activity of Akt in epithelial basal cells induces spontaneous tumors and heightened sensitivity to skin carcinogenesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

The McCune-Albright syndrome: a lethal gene surviving by mosaicism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Akt1 in murine chondrocytes controls cartilage calcification during endochondral ossification under physiologic and pathologic conditions

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Monozygotic twins discordant for Proteus syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Akt1/PKBalpha is required for normal growth but dispensable for maintenance of glucose homeostasis in mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

PTEN mutations are uncommon in Proteus syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170413

Sudden death caused by pulmonary thromboembolism in Proteus syndrome

28 November 2018

1 reference

12 December 2020

The multifaceted challenges of Proteus syndrome

1 reference

12 December 2020

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

1 reference

12 December 2020

PTEN mutations and proteus syndrome

1 reference

12 December 2020

Cutaneous manifestation of lethal genes

1 reference

12 December 2020

Type 2 segmental Cowden disease vs. Proteus syndrome

1 reference

12 December 2020