(Q81592302)

English

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

scientific article published on 01 June 2005

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scholarly article

1 reference

Europe PubMed Central

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10 January 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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15798777%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

mutational analysis

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based on heuristic

inferred from title

tuberous sclerosis

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based on heuristic

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tuberous sclerosis 1

1 reference

based on heuristic

inferred from title

5

1 reference

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10 January 2020

author name string

Ozgur Sancak

1

1 reference

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10 January 2020

Mark Nellist

2

1 reference

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10 January 2020

Miriam Goedbloed

3

1 reference

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10 January 2020

Peter Elfferich

4

1 reference

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10 January 2020

Anneke Maat-Kievit

6

1 reference

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10 January 2020

Bernard Zonnenberg

7

1 reference

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10 January 2020

Senno Verhoef

8

1 reference

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10 January 2020

Dicky Halley

9

1 reference

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10 January 2020

Ans van den Ouweland

10

1 reference

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10 January 2020

publication date

1 June 2005

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10 January 2020

European Journal of Human Genetics

1 reference

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10 January 2020

13

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10 January 2020

731-741

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10 January 2020

6

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10 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201402

0 references

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

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/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

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/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FSJ.EJHG.5201402

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/10.1038%2FSJ.EJHG.5201402

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/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetic advances in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

High rate of mosaicism in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

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/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Autism and tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Estradiol and tamoxifen stimulate LAM-associated angiomyolipoma cell growth and activate both genomic and nongenomic signaling pathways

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis: from tubers to mTOR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple roles of the tuberous sclerosis complex genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201402

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201402

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15798777%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15798777%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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