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Francesca Pantaleoni

Showing results (21-30 of 49) with videos related to

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Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
Clinical Genetics|January 17, 2022
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-makingChiara Leoni, Filomena Valentina Paradiso, Nazario Foschi, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Human Molecular Genetics|May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathyMarialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
Clinical Genetics|January 17, 2022
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-makingChiara Leoni, Filomena Valentina Paradiso, Nazario Foschi, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Human Molecular Genetics|May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathyMarialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Pageof 5