Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex (Q33790242)

29 July 2017

title

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

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29 July 2017

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6

Pasi Janne

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29 July 2017

Wei Qin

1

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29 July 2017

Piotr Kozlowski

2

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29 July 2017

Bruce E Taillon

3

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29 July 2017

Pascal Bouffard

4

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29 July 2017

Alison J Holmes

5

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29 July 2017

Susana Camposano

7

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29 July 2017

Elizabeth Thiele

8

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29 July 2017

David Franz

9

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29 July 2017

David J Kwiatkowski

10

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29 July 2017

publication date

18 February 2010

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29 July 2017

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29 July 2017

volume

127

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29 July 2017

issue

5

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29 July 2017

page(s)

573-582

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describes a project that uses

29 July 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2854849/fullTextXML

inferred from PubMed Central ID database lookup

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

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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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

4 July 2018

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4 July 2018

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

4 July 2018

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High rate of mosaicism in tuberous sclerosis complex

4 July 2018

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

4 July 2018

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Germ-line mosaicism in tuberous sclerosis: how common?

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

4 July 2018

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4 July 2018

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

4 July 2018

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Genetic aspects of tuberous sclerosis in the west of Scotland

4 July 2018

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4 July 2018

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Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

4 July 2018

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Low-abundance drug-resistant viral variants in chronically HIV-infected, antiretroviral treatment-naive patients significantly impact treatment outcomes

30 October 2018

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30 October 2018

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Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations

30 October 2018

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30 October 2018

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A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia.

30 October 2018

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30 October 2018

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

30 October 2018

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

30 October 2018

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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

A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine

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12 December 2020

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12 December 2020

Low level mosaicism detectable by DHPLC but not by direct sequencing

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12 December 2020

10.1007/S00439-010-0801-Z

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DOI

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Dimensions Publication ID

29 July 2017

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29 July 2017

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