Condition: TUBEROUS SCLEROSIS 2 (disorder)


rs1064792923 in PKD1;TSC2 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 25498131 2014 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 9328481 1997 Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

PMID 24789117 2015 Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PMID 12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PMID 10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PMID 10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

PMID 15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PMID 15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PMID 15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

PMID 27174333 2016 Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.

PMID 21510812 2011 High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

PMID 16114042 2005 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.

PMID 23955302 2013 A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 12111193 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

rs1057521562 in TSC2 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 12111193 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

PMID 15798777 2005 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.

PMID 18302728 2008 Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 21567926 2011 Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 21811971 2011 [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].

PMID 23389244 2013 Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.

PMID 22903760 2013 Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PMID 9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 19259131 2009 Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

PMID 22748302 2012 Uterine angiosarcoma associated with lymphangioleiomyomatosis in a patient with tuberous sclerosis complex: an autopsy case report with immunohistochemical and genetic analysis.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PMID 16554133 2006 Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PMID 10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PMID 15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PMID 12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 27859028 2017 Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.

PMID 24271014 2014 Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

PMID 25900779 2015 TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

PMID 25782670 2015 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

PMID 25927202 2015 Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

PMID 10823953 2000 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

PMID 11741832 2001 TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 15483652 2005 Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

PMID 18308511 2008 Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.

PMID 26703369 2016 Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

PMID 22490766 2012 Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

PMID 18792920 2008 PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.

PMID 21332470 2012 Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.

PMID 28149746 2017 Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability.

PMID 25039834 2014 Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex.

PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

PMID 21510812 2011 High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

PMID 10942116 2000 Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.

PMID 9881533 1998 Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

PMID 26540169 2015 Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

PMID 20633017 2010 Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

PMID 11208653 2001 The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.

PMID 11520734 2001 Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.

PMID 16114042 2005 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.

PMID 29196670 2017 Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

PMID 11403047 2001 A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

PMID 17536269 2007 [Analysis of gene mutations in two patients with tuberous sclerosis complex].

PMID 20498439 2010 Biallelic TSC gene inactivation in tuberous sclerosis complex.

PMID 12015165 2002 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

PMID 11068191 2000 Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.

PMID 15121797 2004 Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.

PMID 10090883 1999 Germ-line mosaicism in tuberous sclerosis: how common?

PMID 28065512 2017 Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.

PMID 9412784 1998 Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.

PMID 28968464 2017 Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

PMID 25281918 2014 The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.

PMID 22552000 2012 Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis.

PMID 18772611 2008 Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.

PMID 10330349 1999 High rate of mosaicism in tuberous sclerosis complex.

PMID 14641237 2003 A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.

PMID 17120248 2006 Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

PMID 25432535 2015 A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

PMID 22805177 2013 Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.

PMID 16464865 2006 TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.

PMID 10215407 1998 Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.

PMID 18550814 2008 Phospholipase D1 is an effector of Rheb in the mTOR pathway.

PMID 18411301 2008 The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.

PMID 27078846 2016 mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency.

PMID 12906785 2003 Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.

PMID 14718525 2004 Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe.

PMID 28127866 2017 Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 21910228 2011 Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

PMID 20399389 2010 Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia.

PMID 28087349 2017 Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.

PMID 29926239 2018 Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

rs397515020 in TSC2;NTHL1 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 16835931 2006 Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.

rs137854218 in TSC2;PKD1 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 15874888 2005 Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PMID 25498131 2014 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16114042 2005 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.

PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 9328481 1997 Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

PMID 12136241 2002 SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

PMID 25782670 2015 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

PMID 24789117 2015 Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

PMID 12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PMID 10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PMID 10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PMID 10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PMID 9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.