List of works - Claudio Carta

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

scientific article published on 23 April 2013

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

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

scientific article published on January 2012

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

scientific article

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

scientific article

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

scientific article published on 27 February 2006

Clinical and molecular characterization of 40 patients with Noonan syndrome.

scientific article

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

scientific article published on 28 January 2013

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

scientific article

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

scientific article

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

scientific article published on March 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

scientific article

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

scientific article

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

scientific article published on 13 December 2006

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

scientific article published on 24 February 2004

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

scientific article published in October 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)).

scientific article published in January 2006

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

scientific article

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

scientific article

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

scientific article published on 01 November 1999

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

scientific article published on 17 January 2012

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

scientific article published on 29 October 2017

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

scientific article

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

scientific article published on 29 May 2015

Recommendations for Improving the Quality of Rare Disease Registries

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

scientific article

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

scientific article

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

scientific article published on 01 March 2007

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

scientific article

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

scientific article published on 3 February 2016

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

scientific article

List of works by 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