(Q48459208)

11 February 2018

title

Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis (English)

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11 February 2018

author name string

Chih-Ping Chen

1

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11 February 2018

Yi-Ning Su

2

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11 February 2018

Chia-Cheng Hung

3

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11 February 2018

Jin-Chung Shih

4

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11 February 2018

Wayseen Wang

5

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11 February 2018

publication date

1 July 2006

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11 February 2018

Journal of the Formosan Medical Association

published in

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11 February 2018

volume

105

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11 February 2018

issue

7

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11 February 2018

page(s)

599-603

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11 February 2018

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Low level mosaicism detectable by DHPLC but not by direct sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960157-1

7 January 2021

10.1016/S0929-6646(09)60157-1

Identifiers

DOI

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11 February 2018

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11 February 2018