Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q35833449

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Rapamycin and rapalogs for tuberous sclerosis complex Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.The genomic landscape of tuberous sclerosis complex Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.Changing paradigm of cancer therapy: precision medicine by next-generation sequencing.Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.Transarterial embolization for renal angiomyolipomas: A single centre experience in 79 patients.New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature.Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches.Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Dermatological manifestations of tuberous sclerosis complex (TSC).Dermatologische Manifestationen der tuberösen Sklerose (TSC).Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.Molecular rescue of Tsc1-ablated cortical tuber mice.Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.Genotype and brain pathology phenotype in children with tuberous sclerosis complex.Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation.Tuberous sclerosis complex: Five new things.A diagnostic and management algorithm for individuals with an isolated skin finding suggestive of tuberous sclerosis complex.Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.[Hereditary tumor syndromes in neuropathology].Update on Genetic Conditions Affecting the Skin and the Kidneys.Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.Silent gonadotroph pituitary neuroendocrine tumor in a patient with tuberous sclerosis complex: evaluation of a possible molecular link

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

http://www.wikidata.org/entity/Q35833449

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Mosaic and Intronic Mutations ...... ified by Conventional Testing.

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Aaron R Thorner

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Darcy Krueger

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David J Kwiatkowski

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David N Franz

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Elizabeth A Thiele

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Jennifer Glass

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Kira A Dies

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Ling Lin

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Magdalena E Tyburczy

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Susana Camposano

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P2860

Predicting deleterious amino acid substitutions

An integrated map of genetic variation from 1,092 human genomes

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

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

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

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

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

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