Lista de obras - Christina Lissewski - Dominio Público Uruguay

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

artículo científico publicado en 2019

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

article

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

artículo científico publicado en 2015

Clinical and molecular analysis of RASopathies in a group of Turkish patients ⬇️

artículo científico publicado el 9 de abril de 2012

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

artículo científico publicado en 2015

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome ⬇️

artículo científico publicado el 17 de enero de 2013

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

artículo científico publicado en 2016

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Germline RRAS2 mutations are not associated with Noonan syndrome.

artículo científico publicado en 2016

Health and Quality of Life in Adults with Noonan Syndrome ⬇️

artículo científico publicado el 10 de abril de 2012

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

artículo científico publicado en 2014

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

artículo científico publicado en 2015

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

scientific article published on 29 February 2020

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

artículo científico publicado en 2016

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

artículo científico publicado en 2020

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

artículo científico publicado en 2017

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

Lista de obras de Christina Lissewski

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Clinical and molecular analysis of RASopathies in a group of Turkish patients ⬇️

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome ⬇️

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Genotype and phenotype spectrum of NRAS germline variants

Germline RRAS2 mutations are not associated with Noonan syndrome.

Health and Quality of Life in Adults with Noonan Syndrome ⬇️

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications