Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs (Q24535643)

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

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scholarly article

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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 (English)

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mutational analysis

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based on heuristic

inferred from title

tuberous sclerosis

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based on heuristic

inferred from title

Sergiusz Jóźwiak

2

object named as

S Jozwiak

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author name string

S L Dabora

1

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D N Franz

3

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P S Roberts

4

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A Nieto

5

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J Chung

6

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Y S Choy

7

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M P Reeve

8

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E Thiele

9

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J C Egelhoff

10

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J Kasprzyk-Obara

11

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D Domanska-Pakiela

12

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D J Kwiatkowski

13

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language of work or name

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publication date

January 2001

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American Journal of Human Genetics

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68

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1

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64-80

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High frequency of large intragenic deletions in the Fanconi anemia group A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Amino acid substitution matrices from protein blocks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

24 March 2017

Molecular genetic advances in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

High rate of mosaicism in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Renal lesion growth in children with tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Dynamic molecular combing: stretching the whole human genome for high-resolution studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Cardiac tumours in tuberous sclerosis: their incidence and course

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

cDNA structure, alternative splicing and exon—intron organization of the predisposing tuberous scelerosis (Tsc2) gene of the Eker rat model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Genetic aspects of tuberous sclerosis in the west of Scotland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Incidence of hepatic hamartomas in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

27 September 2017

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

29 November 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

29 November 2018

Cloning, developmental expression, and evidence for alternative splicing of the murine tuberous sclerosis (TSC2) gene product.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

29 November 2018

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234935

29 November 2018

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://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tuberous sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cutaneous features of tuberous sclerosis: a population study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiology of tuberous sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11112665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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