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Tuberous sclerosis
scientific article published on 26 July 2006
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
title
Tuberous sclerosis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
author name string
John R W Yates
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
publication date
26 July 2006
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
volume
14
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
issue
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
page(s)
1065-1073
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
exact match
https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201625
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Dysregulation of the TSC-mTOR pathway in human disease
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Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.
1 reference
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7 January 2021
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The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Autistic behaviour and attention deficits in tuberous sclerosis: a population-based study.
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Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.
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Ophthalmic manifestations of tuberous sclerosis: a population based study
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Association between cardiac tumors and tuberous sclerosis in the fetus and neonate
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Lymphangioleiomyomatosis and tuberous sclerosis.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Identification and characterization of the tuberous sclerosis gene on chromosome 16
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Genotype and psychological phenotype in tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
High rate of mosaicism in tuberous sclerosis complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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inferred from DOI database lookup
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Chromosome 16 Loss of Heterozygosity in Tuberous Sclerosis and Sporadic Lymphangiomyomatosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Rheb fills a GAP between TSC and TOR.
1 reference
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Crossref
reference URL
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Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
1 reference
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Crossref
reference URL
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7 January 2021
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Effects of rapamycin in the Eker rat model of tuberous sclerosis complex
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
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7 January 2021
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inferred from DOI database lookup
Visual field constriction in 91 Finnish children treated with vigabatrin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Long-term outcome of epilepsy surgery in patients with tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Vagal nerve stimulation in tuberous sclerosis complex patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
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inferred from DOI database lookup
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carbon dioxide and pulsed dye laser treatment of angiofibromas in 29 patients with tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical experience of lymphangioleiomyomatosis in the UK.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal angiomyolipoma: long-term results after arterial embolization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of tuberous sclerosis in parents by magnetic resonance imaging
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The value of investigation for genetic counselling in tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201625
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5201625
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
PubMed publication ID
16868562
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16868562
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16868562%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
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