(Q43552546)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21449900%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

An Australian tuberous sclerosis cohort: are surveillance guidelines being met? (English)

1 reference

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27 January 2020

1 reference

1

1 reference

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27 January 2020

John A Lawson

2

1 reference

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27 January 2020

Sean E Kennedy

4

1 reference

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27 January 2020

Orli Wargon

7

1 reference

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27 January 2020

author name string

Meredith Wilson

3

1 reference

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27 January 2020

Peter Taylor

5

1 reference

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27 January 2020

Michael F Buckley

6

1 reference

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27 January 2020

Gayathri Parasivam

8

1 reference

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27 January 2020

Christoph Camphausen

9

1 reference

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27 January 2020

Deborah Yates

10

1 reference

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27 January 2020

David Mowat

11

1 reference

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27 January 2020

publication date

30 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21449900%20AND%20SRC:MED&resulttype=core&format=json

Journal of Paediatrics and Child Health

27 January 2020

published in

1 reference

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27 January 2020

volume

47

1 reference

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27 January 2020

issue

10

1 reference

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27 January 2020

page(s)

711-716

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21449900%20AND%20SRC:MED&resulttype=core&format=json

Identification and characterization of the tuberous sclerosis gene on chromosome 16

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Cell signaling. mTOR, unleashed

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Lymphangioleiomyomatosis: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Genotype and psychological phenotype in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Tuberous sclerosis--what's new?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02038.X

10.1111/J.1440-1754.2011.02038.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21449900%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference