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Alessia David

Showing results (41-50 of 52) with videos related to

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Nature Genetics|January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.
Current Research in Translational Medicine|February 1, 2022
A common TMPRSS2 variant has a protective effect against severe COVID-19Alessia David, Nicholas Parkinson, Thomas P Peacock, et al.
Journal of the Endocrine Society|December 1, 2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I DeficiencyKanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, et al.
The Journal of Clinical Endocrinology and Metabolism|November 22, 2017
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed PubertySasha R Howard, Leonardo Guasti, Ariel Poliandri, et al.
International Journal of Molecular Sciences|November 13, 2020
Ligand-Specific Factors Influencing GLP-1 Receptor Post-Endocytic Trafficking and Degradation in Pancreatic Beta CellsZijian Fang, Shiqian Chen, Yusman Manchanda, et al.
JCI Insight|June 5, 2020
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signalingAlessandra Mancini, Sasha R Howard, Federica Marelli, et al.
EMBO Molecular Medicine|May 4, 2016
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed pubertySasha R Howard, Leonardo Guasti, Gerard Ruiz-Babot, et al.
European Journal of Endocrinology|June 22, 2017
In-frame seven amino-acid duplication in <i>AIP</i> arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantismRoberto Salvatori, Serban Radian, Yoan Diekmann, et al.
The Lancet. Diabetes & Endocrinology|June 29, 2023
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort studyAna P M Canton, Flávia R Tinano, Leonardo Guasti, et al.
European Journal of Endocrinology|March 12, 2025
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesisPaul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Nature Genetics|January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.
Current Research in Translational Medicine|February 1, 2022
A common TMPRSS2 variant has a protective effect against severe COVID-19Alessia David, Nicholas Parkinson, Thomas P Peacock, et al.
Journal of the Endocrine Society|December 1, 2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I DeficiencyKanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, et al.
The Journal of Clinical Endocrinology and Metabolism|November 22, 2017
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed PubertySasha R Howard, Leonardo Guasti, Ariel Poliandri, et al.
International Journal of Molecular Sciences|November 13, 2020
Ligand-Specific Factors Influencing GLP-1 Receptor Post-Endocytic Trafficking and Degradation in Pancreatic Beta CellsZijian Fang, Shiqian Chen, Yusman Manchanda, et al.
JCI Insight|June 5, 2020
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signalingAlessandra Mancini, Sasha R Howard, Federica Marelli, et al.
EMBO Molecular Medicine|May 4, 2016
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed pubertySasha R Howard, Leonardo Guasti, Gerard Ruiz-Babot, et al.
European Journal of Endocrinology|June 22, 2017
In-frame seven amino-acid duplication in <i>AIP</i> arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantismRoberto Salvatori, Serban Radian, Yoan Diekmann, et al.
The Lancet. Diabetes & Endocrinology|June 29, 2023
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort studyAna P M Canton, Flávia R Tinano, Leonardo Guasti, et al.
European Journal of Endocrinology|March 12, 2025
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesisPaul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, et al.
Pageof 6