Molecular and clinical analyses of 84 patients with tuberous sclerosis complex (Q33257900)

24 July 2017

title

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex (English)

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24 July 2017

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Wang-Tso Lee

9

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Horng-huei Liou

object named as

Horng-Huei Liou

4

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Chien-Nan Lee

object named as

Chien-Nan Lee

11

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Pau-Chung Chen

object named as

Pau-Chung Chen

6

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author name string

Chia-Cheng Hung

1

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24 July 2017

Yi-Ning Su

2

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24 July 2017

Shu-Chin Chien

3

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24 July 2017

Chih-Chuan Chen

5

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24 July 2017

Chia-Jung Hsieh

7

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24 July 2017

Chih-Ping Chen

8

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24 July 2017

Win-Li Lin

10

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24 July 2017

publication date

18 September 2006

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24 July 2017

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24 July 2017

volume

7

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24 July 2017

page(s)

72

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Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease

24 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

21 June 2018

1 reference

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A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Denaturing high-performance liquid chromatography: A review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

High rate of mosaicism in tuberous sclerosis complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592085

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

Genotype and psychological phenotype in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-72

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

21 January 2018

1 reference

12 December 2020

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

1 reference

12 December 2020

Epidemiology of tuberous sclerosis

1 reference

12 December 2020

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE

1 reference

12 December 2020

Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-7-72

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Dimensions Publication ID

24 July 2017

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24 July 2017

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