Lista de obras - Claudio Carta - Dominio Público Uruguay

A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

artículo científico publicado en 2013

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

Accentuated response to phenylhydrazine and erythropoietin in mice genetically impaired for their GATA-1 expression (GATA-1(low) mice).

artículo científico publicado en 2001

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

artículo científico publicado en 2006

Biochemical and molecular characterization of the novel BRAF(V599Ins) mutation detected in a classic papillary thyroid carcinoma.

artículo científico publicado en 2006

Clinical and molecular characterization of 40 patients with Noonan syndrome.

artículo científico publicado en 2008

Complete sequence of the IncT-type plasmid pT-OXA-181 carrying the blaOXA-181 carbapenemase gene from Citrobacter freundii

artículo científico publicado en 2013

Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes

artículo científico publicado en 2012

Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia

artículo científico publicado en 2005

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

Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalis

artículo científico publicado en 2013

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

scholarly article published in Nature Genetics

Erythropoietin-dependent suppression of the expression of the beta subunits of the interleukin-3 receptor during erythroid differentiation

artículo científico publicado en 2000

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

artículo científico publicado en 2006

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

artículo científico publicado en 2004

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

artículo científico publicado en 2009

Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns)).

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

In vivo expansion of purified hematopoietic stem cells transplanted in nonablated W/Wv mice

artículo científico publicado en 1999

Klebsiella pneumoniae ST258 producing KPC-3 identified in italy carries novel plasmids and OmpK36/OmpK35 porin variants

artículo científico publicado en 2012

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

artículo científico publicado en 2017

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

artículo científico publicado en 2005

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

artículo científico publicado en 2015

Recommendations for Improving the Quality of Rare Disease Registries

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

artículo científico publicado en 2005

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

The Italian National Centre for Rare Diseases: where research and public health translate into action

artículo científico publicado en 2014

The Italian pilot external quality assessment program for cystic fibrosis sweat test

artículo científico publicado en 2016

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

artículo científico publicado en 2018

Lista de obras de Claudio Carta

A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

A restricted spectrum of NRAS mutations causes Noonan syndrome

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

Accentuated response to phenylhydrazine and erythropoietin in mice genetically impaired for their GATA-1 expression (GATA-1(low) mice).

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

Biochemical and molecular characterization of the novel BRAF(V599Ins) mutation detected in a classic papillary thyroid carcinoma.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Complete sequence of the IncT-type plasmid pT-OXA-181 carrying the blaOXA-181 carbapenemase gene from Citrobacter freundii

Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes

Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia

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

Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalis

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Erythropoietin-dependent suppression of the expression of the beta subunits of the interleukin-3 receptor during erythroid differentiation

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns)).

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

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

In vivo expansion of purified hematopoietic stem cells transplanted in nonablated W/Wv mice

Klebsiella pneumoniae ST258 producing KPC-3 identified in italy carries novel plasmids and OmpK36/OmpK35 porin variants

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Recommendations for Improving the Quality of Rare Disease Registries

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

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

The Italian National Centre for Rare Diseases: where research and public health translate into action

The Italian pilot external quality assessment program for cystic fibrosis sweat test

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers