Related references
Note: Only part of the references are listed.Familial Hyperparathyroidism
Jenny E. Blau et al.
FRONTIERS IN ENDOCRINOLOGY (2021)
Whole exome sequencing in familial isolated primary hyperparathyroidism
F. Cetani et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2020)
GERMLINE GCM2 MUTATION SCREENING IN CHINESE PRIMARY HYPERPARATHYROIDISM PATIENTS
An Song et al.
ENDOCRINE PRACTICE (2020)
Molecular genetic insights into sporadic primary hyperparathyroidism
Kelly Brewer et al.
ENDOCRINE-RELATED CANCER (2019)
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities
Se Hee Kim et al.
PEDIATRIC NEUROLOGY (2019)
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas
Aaliyah Riccardi et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
John Hoon Rim et al.
BMC MEDICAL GENOMICS (2018)
Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism
Mustapha El Lakis et al.
JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS (2018)
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure
Mustapha El Lakis et al.
SURGERY (2018)
Primary Hyperparathyroidism
John P. Bilezikian
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas
Zhe Wei et al.
ENDOCRINOLOGY (2018)
Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus
A. A. Khan et al.
OSTEOPOROSIS INTERNATIONAL (2017)
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism
Bin Guan et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2017)
Persistent and recurrent hyperparathyroidism
Carole Guerin et al.
UPDATES IN SURGERY (2017)
Genomic profiling reveals mutational landscape in parathyroid carcinomas
Chetanya Pandya et al.
JCI INSIGHT (2017)
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism
Bin Guan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Genetics of parathyroid tumours
R. V. Thakker
JOURNAL OF INTERNAL MEDICINE (2016)
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins
Andrew D. Rouillard et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2016)
Primary hyperparathyroidism
John P. Bilezikian et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Molecular profiling in primary hyperparathyroidism
Oliwia Anna Segiet et al.
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK (2015)
Increased Prevalence of the GCM2 Polymorphism, Y282D, in Primary Hyperparathyroidism: Analysis of Three Italian Cohorts
Leonardo D'Agruma et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Guidelines for the Management of Asymptomatic Primary Hyperparathyroidism: Summary Statement from the Fourth International Workshop
John P. Bilezikian et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop
Richard Eastell et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Incidence and Prevalence of Primary Hyperparathyroidism in a Racially Mixed Population
Michael W. Yeh et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
M. Andrew Nesbit et al.
NATURE GENETICS (2013)
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
M. Andrew Nesbit et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas
Paul J. Newey et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Evidence of a Functional Estrogen Receptor in Parathyroid Adenomas
Felix Haglund et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing
M. Kyle Cromer et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism
Lee F. Starker et al.
HORMONES & CANCER (2012)
Lrp5 functions in bone to regulate bone mass
Yajun Cui et al.
NATURE MEDICINE (2011)
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
Fadil M. Hannan et al.
CLINICAL ENDOCRINOLOGY (2010)
Aberrant WNT/β-catenin signaling in parathyroid carcinoma
Jessica Svedlund et al.
MOLECULAR CANCER (2010)
An LRP5-receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/β-catenin signaling
Peyman Bjorklund et al.
PLOS MEDICINE (2007)
Familial adenomatous polyposis associated with multiple endocrine neoplasia type 1 - Related tumors and thyroid carcinoma a case report with clinicopathologic and molecular analyses
Y Sakai et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2002)