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Anne Barlier

Showing results (151-160 of 166) with videos related to

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European Journal of Endocrinology|July 15, 2011
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomasMaria A Tichomirowa, Anne Barlier, Adrian F Daly, et al.
Endocrine-Related Cancer|February 1, 2012
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindredsMaria A Tichomirowa, Misu Lee, Anne Barlier, et al.
The Journal of Clinical Endocrinology and Metabolism|December 23, 2004
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, et al.
The Journal of Clinical Endocrinology and Metabolism|January 30, 2024
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature ReviewBenjamin Chevalier, Lucie Coppin, Pauline Romanet, et al.
Endocrine Connections|May 7, 2020
Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter studyLouise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, et al.
American Journal of Human Genetics|July 16, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiencyPeter Gergics, Cathy Smith, Hironori Bando, et al.
Human Molecular Genetics|February 5, 2013
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort studyJulien Thevenon, Abderrahmane Bourredjem, Laurence Faivre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 25, 2007
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 familiesAdrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, 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.
The Journal of Clinical Endocrinology and Metabolism|December 16, 2014
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohortJudit Dénes, Francesca Swords, Eleanor Rattenberry, et al.
Pageof 17

Showing results (151-160 of 166) with videos related to

Sort By:
Pageof 17
European Journal of Endocrinology|July 15, 2011
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomasMaria A Tichomirowa, Anne Barlier, Adrian F Daly, et al.
Endocrine-Related Cancer|February 1, 2012
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindredsMaria A Tichomirowa, Misu Lee, Anne Barlier, et al.
The Journal of Clinical Endocrinology and Metabolism|December 23, 2004
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, et al.
The Journal of Clinical Endocrinology and Metabolism|January 30, 2024
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature ReviewBenjamin Chevalier, Lucie Coppin, Pauline Romanet, et al.
Endocrine Connections|May 7, 2020
Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter studyLouise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, et al.
American Journal of Human Genetics|July 16, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiencyPeter Gergics, Cathy Smith, Hironori Bando, et al.
Human Molecular Genetics|February 5, 2013
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort studyJulien Thevenon, Abderrahmane Bourredjem, Laurence Faivre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 25, 2007
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 familiesAdrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, 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.
The Journal of Clinical Endocrinology and Metabolism|December 16, 2014
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohortJudit Dénes, Francesca Swords, Eleanor Rattenberry, et al.
Pageof 17