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Lidia Larizza

Showing results (101-110 of 150) with videos related to

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Neurogenetics|June 19, 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpressionMaria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, et al.
Stem Cell Research|June 27, 2018
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)Valentina Alari, Silvia Russo, Davide Rovina, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
Human Molecular Genetics|December 13, 2006
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumourAngela Sparago, Silvia Russo, Flavia Cerrato, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Frontiers in Genetics|December 18, 2018
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like FeaturesValentina Cirello, Valentina Giorgini, Chiara Castronovo, et al.
International Journal of Molecular Sciences|June 2, 2021
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi PatientsValentina Alari, Paolo Scalmani, Paola Francesca Ajmone, et al.
International Journal of Molecular Sciences|April 13, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer OutcomeElisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, et al.
Stem Cell Research|September 7, 2019
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutationsValentina Alari, Silvia Russo, Davide Rovina, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Pageof 15

Showing results (101-110 of 150) with videos related to

Sort By:
Pageof 15
Neurogenetics|June 19, 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpressionMaria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, et al.
Stem Cell Research|June 27, 2018
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)Valentina Alari, Silvia Russo, Davide Rovina, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
Human Molecular Genetics|December 13, 2006
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumourAngela Sparago, Silvia Russo, Flavia Cerrato, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Frontiers in Genetics|December 18, 2018
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like FeaturesValentina Cirello, Valentina Giorgini, Chiara Castronovo, et al.
International Journal of Molecular Sciences|June 2, 2021
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi PatientsValentina Alari, Paolo Scalmani, Paola Francesca Ajmone, et al.
International Journal of Molecular Sciences|April 13, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer OutcomeElisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, et al.
Stem Cell Research|September 7, 2019
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutationsValentina Alari, Silvia Russo, Davide Rovina, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Pageof 15