1-11 of 11
Authors: Stefanie Parisien-La Salle
Journal Article
8415 Rapid Generation Of An In Vivo Loss-Of-Function Genetic Model Of sdhb Zebrafish: Functional And Metabolic Characterization
Journal of the Endocrine Society, Volume 8, Issue Supplement_1, October-November 2024, bvae163.278, https://doi.org/10.1210/jendso/bvae163.278
Published: 05 October 2024
Journal Article
8401 Genetic Characterization of a Case of Primary Aldosteronism in an 11-Year-Old Girl carrying a Germline VUS of CACNA1H and a Somatic Mutation of CTNNB1
Journal of the Endocrine Society, Volume 8, Issue Supplement_1, October-November 2024, bvae163.1451, https://doi.org/10.1210/jendso/bvae163.1451
Published: 05 October 2024
Journal Article
8528 An Unusual Case Of Adrenal Hemorrhage As An Initial Manifestation Of Castleman Disease In A 29 yo Male With Unsuspected Late-Onset Congenital Adrenal Hyperplasia
Journal of the Endocrine Society, Volume 8, Issue Supplement_1, October-November 2024, bvae163.110, https://doi.org/10.1210/jendso/bvae163.110
Published: 05 October 2024
Journal Article
Sex-Related Differences in Self-Reported Symptoms at Diagnosis in Pheochromocytomas and Paragangliomas
Journal of the Endocrine Society, Volume 8, Issue 3, March 2024, bvae005, https://doi.org/10.1210/jendso/bvae005
Published: 24 January 2024
Journal Article
FRI157 Systematic Germline Genetic Analysis In A Cohort Of Adults With Primary Aldosteronism And Hypertension Onset ≤35 yo : Low Yield Of Genetic Pathogenic Variants
Journal of the Endocrine Society, Volume 7, Issue Supplement_1, October-November 2023, bvad114.669, https://doi.org/10.1210/jendso/bvad114.669
Published: 05 October 2023
Journal Article
FRI127 Delay Of A Decade In The Diagnosis Of Primary Aldosteronism In Patients With Onset Of Hypertension ≤ 40 Yo
Journal of the Endocrine Society, Volume 7, Issue Supplement_1, October-November 2023, bvad114.640, https://doi.org/10.1210/jendso/bvad114.640
Published: 05 October 2023
Journal Article
OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C>T SDHC Mutation: Insights On SDHC Phenotype And Outcomes
Journal of the Endocrine Society, Volume 7, Issue Supplement_1, October-November 2023, bvad114.159, https://doi.org/10.1210/jendso/bvad114.159
Published: 05 October 2023
Journal Article
RF21 | PSUN07 Germline Genetic Testing in a Cohort of Adults with Adrenocortical Carcinoma : Insights From a Clinical Care Setting
Journal of the Endocrine Society, Volume 6, Issue Supplement_1, November-December 2022, Page A139, https://doi.org/10.1210/jendso/bvac150.283
Published: 01 November 2022
Journal Article
ODP051 Presymptomatic Genetic Screening Leading to the Diagnosis of Paraganglioma Associated with Duodenal and Pancreatic Neuroendocrine Tumours in a Carrier of a Pathogenic MAX Variant
Journal of the Endocrine Society, Volume 6, Issue Supplement_1, November-December 2022, Pages A63–A64, https://doi.org/10.1210/jendso/bvac150.130
Published: 01 November 2022
Journal Article
MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
Journal of the Endocrine Society, Volume 4, Issue Supplement_1, April-May 2020, MON-209, https://doi.org/10.1210/jendso/bvaa046.1548
Published: 08 May 2020
Journal Article
MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate
Journal of the Endocrine Society, Volume 4, Issue Supplement_1, April-May 2020, MON-212, https://doi.org/10.1210/jendso/bvaa046.453
Published: 08 May 2020
