Familial Isolated Hyperparathyroidism Latest Advances

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

Journal: Archives of endocrinology and metabolism

Published: September 02, 2025

Diagnostic Dilemma Involving a Rare Case of a CDC73 Parafibromin-Deficient Parathyroid Adenoma.

Journal: AACE endocrinology and diabetes

Published: June 29, 2025

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: March 08, 2025

Congenital primary hyperparathyroidism.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: February 12, 2025

Chapter 5: The roles of genetics in primary hyperparathyroidism.

Journal: Annales d'endocrinologie

Published: January 16, 2025

Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.

Journal: Annales d'endocrinologie

Published: December 30, 2024

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Journal: Scientific reports

Published: November 11, 2024

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Journal: Clinics and practice

Published: October 02, 2024

Importance of Hypomagnesemia in Primary Hyperparathyroidism: A Turkish Nationwide Retrospective Cohort Study.

Journal: Biological trace element research

Published: August 17, 2024

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

Journal: JBMR plus

Published: April 27, 2024

Familial states of primary hyperparathyroidism: an update.

Journal: Journal of endocrinological investigation

Published: October 25, 2023

Genetics of hereditary forms of primary hyperparathyroidism.

Journal: Hormones (Athens, Greece)

Published: October 04, 2023

Familial Isolated Hyperparathyroidism Latest Advances

Find the Latest Research About Familial Isolated Hyperparathyroidism

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

Diagnostic Dilemma Involving a Rare Case of a CDC73 Parafibromin-Deficient Parathyroid Adenoma.

Diagnostic Dilemma Involving a Rare Case of a CDC73 Parafibromin-Deficient Parathyroid Adenoma.

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Congenital primary hyperparathyroidism.

Congenital primary hyperparathyroidism.

Chapter 5: The roles of genetics in primary hyperparathyroidism.

Chapter 5: The roles of genetics in primary hyperparathyroidism.

Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.

Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Importance of Hypomagnesemia in Primary Hyperparathyroidism: A Turkish Nationwide Retrospective Cohort Study.

Importance of Hypomagnesemia in Primary Hyperparathyroidism: A Turkish Nationwide Retrospective Cohort Study.

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

Familial states of primary hyperparathyroidism: an update.

Familial states of primary hyperparathyroidism: an update.

Genetics of hereditary forms of primary hyperparathyroidism.

Genetics of hereditary forms of primary hyperparathyroidism.