(Q34444616)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

tuberous sclerosis

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tuberous sclerosis 1

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Flemming Skovby

6

object named as

Flemming Skovby

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author name string

Nanna D Rendtorff

1

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Europe PubMed Central

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2 August 2017

Bolette Bjerregaard

2

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Europe PubMed Central

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2 August 2017

Morten Frödin

3

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Europe PubMed Central

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2 August 2017

Susanne Kjaergaard

4

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Europe PubMed Central

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2 August 2017

Hanne Hove

5

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Europe PubMed Central

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2 August 2017

Karen Brøndum-Nielsen

7

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Europe PubMed Central

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2 August 2017

Marianne Schwartz

8

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Europe PubMed Central

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2 August 2017

Danish Tuberous Sclerosis Group

9

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Europe PubMed Central

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2 August 2017

publication date

1 October 2005

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Europe PubMed Central

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2 August 2017

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Europe PubMed Central

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2 August 2017

26

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2 August 2017

4

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2 August 2017

374-383

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2 August 2017

The principal rapamycin-sensitive p70(s6k) phosphorylation sites, T-229 and T-389, are differentially regulated by rapamycin-insensitive kinase kinases

1 reference

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21 January 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

21 January 2018

Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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Molecular genetic advances in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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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/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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Double-gradient DGGE for optimized detection of DNA point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

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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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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A phosphoserine/threonine-binding pocket in AGC kinases and PDK1 mediates activation by hydrophobic motif phosphorylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

1 reference

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7 January 2021

based on heuristic

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Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis: from tubers to mTOR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

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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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis complex: from Drosophila to human disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

The tuberous sclerosis complex (TSC) pathway and mechanism of size control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

DGGE is more sensitive for the detection of somatic point mutations than direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20227

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20227

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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