Lista de obras - Francesca Pantaleoni - Dominio Público Uruguay

A Child with Diminished Linear Growth and Waddling Gait

scientific article published on 08 May 2018

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

artículo científico publicado en 2019

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

artículo científico publicado en 2017

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

article

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

artículo científico publicado en 2015

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

artículo científico publicado en 2019

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

artículo científico publicado en 2014

Biallelic mutations in early-onset, variably progressive neurodegeneration

artículo científico publicado en 2018

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

artículo científico publicado en 2019

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

artículo científico publicado en 2017

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

artículo científico publicado en 2009

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

artículo científico publicado en 2009

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

artículo científico publicado en 2020

Decreased bone mineral density in Costello syndrome.

artículo científico publicado en 2013

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

artículo científico publicado en 2018

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

artículo científico publicado en 2020

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

artículo científico publicado en 2017

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

artículo científico publicado en 2018

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

artículo científico publicado en 2009

Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.

artículo científico publicado en 2010

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

artículo científico publicado en 2006

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

artículo científico publicado en 2017

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade

artículo científico publicado en 2011

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

artículo científico publicado en 2018

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

artículo científico publicado en 2019

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

artículo científico publicado en 2017

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

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

artículo científico publicado en 2022

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 2020

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

artículo científico publicado en 2011

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

artículo científico publicado en 2009

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2

artículo científico publicado en 2007

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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 Francesca Pantaleoni

A Child with Diminished Linear Growth and Waddling Gait

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

A restricted spectrum of NRAS mutations causes Noonan syndrome

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Biallelic mutations in early-onset, variably progressive neurodegeneration

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Decreased bone mineral density in Costello syndrome.

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Genotype and phenotype spectrum of NRAS germline variants

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

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

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations

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

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