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Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma

The journal of clinical endocrinology and metabolism, 2023-01, Vol.108 (1), p.26-32

2023

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Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time

Clinical endocrinology (Oxford), 2022-06, Vol.96 (6), p.803-811

2022

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Adrenocortical hyperplasia: A multifaceted disease

Baillière's best practice & research. Clinical endocrinology & metabolism, 2020-05, Vol.34 (3), p.101386-101386, Article 101386

2020

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Effects of Pursed Lip Breathing on Exercise Capacity and Dyspnea in Patients With Interstitial Lung Disease: A RANDOMIZED, CROSSOVER STUDY

Journal of cardiopulmonary rehabilitation and prevention, 2019-03, Vol.39 (2), p.112-117

2019

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Sex-Related Differences in Self-Reported Symptoms at Diagnosis in Pheochromocytomas and Paragangliomas

Journal of the Endocrine Society, 2024-01, Vol.8 (3), p.bvae005-bvae005

2024

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Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

Cancers, 2022-06, Vol.14 (12), p.2942

2022

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Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire NF1 Gene

Frontiers in endocrinology (Lausanne), 2019-08, Vol.10

2019

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Genetics of cortisol-secreting bilateral macro- and micronodular adrenal hyperplasias

Current opinion in endocrine and metabolic research, 2024-09, Vol.36, p.100541, Article 100541

2024

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Liver mass containing normal bile ducts in an Alagille patient: a case report

Archivos argentinos de pediatría, 2015-08, Vol.113 (4), p.e223-e225

2015

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Sex-related Differences in a Canadian Cohort of Patients With Pheochromocytomas and Paragangliomas

Canadian journal of diabetes, 2022-11, Vol.46 (7), p.S36-S36

2022

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Chromogranin A in a Cohort of Pheochromocytomas and Paragangliomas: Usefulness at Diagnosis and as an Early Biomarker of Recurrence

Endocrine practice, 2021-04, Vol.27 (4), p.318-325

2021

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FRI127 Delay Of A Decade In The Diagnosis Of Primary Aldosteronism In Patients With Onset Of Hypertension ≤ 40 Yo

Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)

2023

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8415 Rapid Generation Of An In Vivo Loss-Of-Function Genetic Model Of sdhb Zebrafish: Functional And Metabolic Characterization

Journal of the Endocrine Society, 2024-10, Vol.8 (Supplement_1)

2024

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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, 2024-10, Vol.8 (Supplement_1)

2024

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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, 2023-10, Vol.7 (Supplement_1)

2023

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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, 2024-10, Vol.8 (Supplement_1)

2024

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2 - Usefulness of Chromogranin A in Diagnosis and Detection of Recurrence in Pheochromocytomas and Paragangliomas

Canadian journal of diabetes, 2019-10, Vol.43 (7), p.S2-S2

2019

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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, 2023-10, Vol.7 (Supplement_1)

2023

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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, 2020-05, Vol.4 (Supplement_1)

2020

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RF21 | PSUN07 Germline Genetic Testing in a Cohort of Adults with Adrenocortical Carcinoma : Insights From a Clinical Care Setting

Journal of the Endocrine Society, 2022-11, Vol.6 (Supplement_1), p.A139-A139

2022

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Genetic Spectrum in a Canadian Cohort of Apparently Sporadic Pheochromocytomas and Paragangliomas (PPGLs): New Data on Multigene Panel Retesting Over Time

Canadian journal of diabetes, 2021-11, Vol.45 (7), p.S19-S19

2021

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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, 2022-11, Vol.6 (Supplement_1), p.A63-A64

2022

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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, 2020-05, Vol.4 (Supplement_1)

2020

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Tumor hepático con vías biliares normales en un paciente con síndrome de Alagille: a propósito de un caso

Archivos argentinos de pediatría, 2015-08, Vol.113 (4), p.e223-e225

2015

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Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma

Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time

Adrenocortical hyperplasia: A multifaceted disease

Effects of Pursed Lip Breathing on Exercise Capacity and Dyspnea in Patients With Interstitial Lung Disease: A RANDOMIZED, CROSSOVER STUDY

Sex-Related Differences in Self-Reported Symptoms at Diagnosis in Pheochromocytomas and Paragangliomas

Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire NF1 Gene

Genetics of cortisol-secreting bilateral macro- and micronodular adrenal hyperplasias

Liver mass containing normal bile ducts in an Alagille patient: a case report

Sex-related Differences in a Canadian Cohort of Patients With Pheochromocytomas and Paragangliomas

Chromogranin A in a Cohort of Pheochromocytomas and Paragangliomas: Usefulness at Diagnosis and as an Early Biomarker of Recurrence

FRI127 Delay Of A Decade In The Diagnosis Of Primary Aldosteronism In Patients With Onset Of Hypertension ≤ 40 Yo

8415 Rapid Generation Of An In Vivo Loss-Of-Function Genetic Model Of sdhb Zebrafish: Functional And Metabolic Characterization

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

FRI157 Systematic Germline Genetic Analysis In A Cohort Of Adults With Primary Aldosteronism And Hypertension Onset ≤35 yo : Low Yield Of Genetic Pathogenic Variants

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

2 - Usefulness of Chromogranin A in Diagnosis and Detection of Recurrence in Pheochromocytomas and Paragangliomas

OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C>T SDHC Mutation: Insights On SDHC Phenotype And Outcomes

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

RF21 | PSUN07 Germline Genetic Testing in a Cohort of Adults with Adrenocortical Carcinoma : Insights From a Clinical Care Setting

Genetic Spectrum in a Canadian Cohort of Apparently Sporadic Pheochromocytomas and Paragangliomas (PPGLs): New Data on Multigene Panel Retesting Over Time

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

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

Tumor hepático con vías biliares normales en un paciente con síndrome de Alagille: a propósito de un caso

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