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Achille Iolascon

Showing results (101-110 of 290) with videos related to

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Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Blood Cells, Molecules & Diseases|March 5, 2013
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type IIRoberta Russo, Concetta Langella, Maria Rosaria Esposito, et al.
Human Genetics|August 27, 2024
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiationMatilde Tirelli, Ferdinando Bonfiglio, Sueva Cantalupo, et al.
Journal of Cancer|February 13, 2020
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastomaFlora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, et al.
British Journal of Haematology|September 29, 2012
Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 geneLuigia De Falco, Mariasole Bruno, Immacolata Andolfo, et al.
American Journal of Hematology|November 19, 2019
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathwayImmacolata Andolfo, Barbara Eleni Rosato, Francesco Manna, et al.
Haematologica|May 28, 2017
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type IIRoberta Russo, Immacolata Andolfo, Antonella Gambale, et al.
Human Reproduction (Oxford, England)|July 4, 2008
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case reportAntonio Agostino Sinisi, Roberta Asci, Giuseppe Bellastella, et al.
FEBS Letters|November 23, 2006
Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosisMarianna Caterino, Margherita Ruoppolo, Stefania Orrù, et al.
Hemoglobin|November 17, 2010
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chainLoïc Garçon, Achille Iolascon, Serge Pissard, et al.
Pageof 29

Showing results (101-110 of 290) with videos related to

Sort By:
Pageof 29
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Blood Cells, Molecules & Diseases|March 5, 2013
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type IIRoberta Russo, Concetta Langella, Maria Rosaria Esposito, et al.
Human Genetics|August 27, 2024
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiationMatilde Tirelli, Ferdinando Bonfiglio, Sueva Cantalupo, et al.
Journal of Cancer|February 13, 2020
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastomaFlora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, et al.
British Journal of Haematology|September 29, 2012
Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 geneLuigia De Falco, Mariasole Bruno, Immacolata Andolfo, et al.
American Journal of Hematology|November 19, 2019
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathwayImmacolata Andolfo, Barbara Eleni Rosato, Francesco Manna, et al.
Haematologica|May 28, 2017
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type IIRoberta Russo, Immacolata Andolfo, Antonella Gambale, et al.
Human Reproduction (Oxford, England)|July 4, 2008
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case reportAntonio Agostino Sinisi, Roberta Asci, Giuseppe Bellastella, et al.
FEBS Letters|November 23, 2006
Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosisMarianna Caterino, Margherita Ruoppolo, Stefania Orrù, et al.
Hemoglobin|November 17, 2010
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chainLoïc Garçon, Achille Iolascon, Serge Pissard, et al.
Pageof 29