Lista de obras -

<i>TSC1</i>-mutant bladder cancer expression signature in relation to nuclear localization of TFE3 and potential for targetable dependency.

artículo científico publicado en 2022

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

scientific article published on 27 June 2019

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

artículo científico publicado el 22 de junio de 2012

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

artículo científico publicado en 2017

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

artículo científico publicado en 2013

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

artículo científico publicado en 2013

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

artículo científico publicado en 2010

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

artículo científico publicado en 2020

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

artículo científico publicado en 2010

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly

scientific article published on 08 March 2017

Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndrome associated with chromosome 5q deletion

artículo científico publicado en 2009

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

artículo científico publicado en 2015

Expanding the Histomorphologic Spectrum of TFE3 Rearranged PEComas

artículo científico publicado en 2018

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

artículo científico publicado el 18 de abril de 2012

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

artículo científico

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

artículo científico publicado en 2019

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.

artículo científico publicado en 2017

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

artículo científico publicado en 2019

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61

artículo científico publicado en 2020

Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells.

artículo científico publicado en 2013

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

artículo científico publicado en 2011

Microrna expression signatures predict patient progression and disease outcome in pediatric embryonal central nervous system neoplasms

artículo científico publicado en 2014

New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney

artículo científico publicado en 2014

Notch transactivates Rheb to maintain the multipotency of TSC-null cells

artículo científico publicado en 2017

Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.

artículo científico publicado en 2011

Reserves, functional, immunoregulatory, and cytogenetic properties of bone marrow mesenchymal stem cells in patients with myelodysplastic syndromes

artículo científico publicado en 2010

Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell

artículo científico publicado en 2020

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

artículo científico publicado en 2020

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

artículo científico publicado en 2017

Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion

artículo científico publicado en 2019

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

artículo científico publicado en 2022

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

artículo científico publicado en 2016

Lista de obras de

<i>TSC1</i>-mutant bladder cancer expression signature in relation to nuclear localization of TFE3 and potential for targetable dependency.

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

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

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly

Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndrome associated with chromosome 5q deletion

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Expanding the Histomorphologic Spectrum of TFE3 Rearranged PEComas

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.

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

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61

Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Microrna expression signatures predict patient progression and disease outcome in pediatric embryonal central nervous system neoplasms

New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney

Notch transactivates Rheb to maintain the multipotency of TSC-null cells

Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.

Reserves, functional, immunoregulatory, and cytogenetic properties of bone marrow mesenchymal stem cells in patients with myelodysplastic syndromes

Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell

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

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

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