List of works - Magdalena Ewa Tyburczy

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

scientific article published on 27 June 2019

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

scientific article

Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

scientific article published in July 2017

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

scientific article published on 22 December 2020

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

scientific article published on 04 June 2019

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

scientific article published on 5 November 2015

Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma

scientific article published on February 2016

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

scientific article published on 10 December 2015

Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications

scientific article

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

scientific article published on 22 May 2019

Probe set filtering increases correlation between Affymetrix GeneChip and qRT-PCR expression measurements

scientific article

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

scientific article published on 13 October 2020

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

scientific article

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

scientific article published on 05 December 2016

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

scientific article published on 30 July 2015

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

scientific article

List of works by Magdalena Ewa Tyburczy

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

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

Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

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

Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Probe set filtering increases correlation between Affymetrix GeneChip and qRT-PCR expression measurements

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development