Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2 (Q36695749)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782670%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2 (English)

1 reference

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3 March 2020

3

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3 March 2020

John J Bissler

4

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3 March 2020

author name string

David J Kwiatkowski

1

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3 March 2020

Michael R Palmer

2

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3 March 2020

David Franz

5

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3 March 2020

Scott Segal

6

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3 March 2020

David Chen

7

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3 March 2020

Julian R Sampson

8

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3 March 2020

publication date

18 March 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782670%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 March 2020

published in

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3 March 2020

volume

23

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3 March 2020

issue

12

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3 March 2020

page(s)

1665-1672

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Creative Commons Attribution 4.0 International

3 March 2020

copyright license

start time

18 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

30 September 2017

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

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Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

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Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

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

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Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

21 January 2018

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Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects

21 January 2018

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12 December 2020

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios

1 reference

12 December 2020

Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis

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12 December 2020

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

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12 December 2020

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

1 reference

12 December 2020

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

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12 December 2020

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

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12 December 2020

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2015.47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782670%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782670%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

25782670

1 reference