Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

(2018) Caroline M Gorvin et al.   HUMAN MOLECULAR GENETICS

Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism

(2018) Mustapha El Lakis et al.   JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS

Primary hyperparathyroidism: should surgery be performed on all patients? Current evidence and residual uncertainties

(2018) I.-L Nilsson   JOURNAL OF INTERNAL MEDICINE

MEN4 and CDKN1B mutations: the latest of the MEN syndromes

(2017) Rami Alrezk et al.   ENDOCRINE-RELATED CANCER

Heritable forms of primary hyperparathyroidism: a current perspective

(2017) Ronald A DeLellis et al.   HISTOPATHOLOGY

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

(2017) Luís Cardoso et al.   HUMAN MUTATION

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation

(2017) Namita Ganesh Hattangady et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

(2016) Rosa Vargas-Poussou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The American Association of Endocrine Surgeons Guidelines for Definitive Management of Primary Hyperparathyroidism

(2016) Scott M. Wilhelm et al.   JAMA Surgery

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

(2015) Titis Widowati et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary hyperparathyroidism—a consensus report of the European Society of Endocrine Surgeons (ESES)

(2015) Maurizio Iacobone et al.   LANGENBECKS ARCHIVES OF SURGERY

The peopling of Britain

(2015) Magdalena Skipper   NATURE REVIEWS GENETICS

Understanding the Genetic Basis of Parathyroid Carcinoma

(2014) Anthony J. Gill   ENDOCRINE PATHOLOGY

The PRIMARA study: a prospective, descriptive, observational study to review cinacalcet use in patients with primary hyperparathyroidism in clinical practice

(2014) P Schwarz et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Hyperparathyroidism-jaw tumor syndrome: Results of operative management

(2014) Amit Mehta et al.   SURGERY

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

(2013) Thomas Cuny et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Primary Hyperparathyroidism in MEN1 Patients

(2012) Carolina R. C. Pieterman et al.   ANNALS OF SURGERY

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

(2011) Lee F. Starker et al.   Hormones & Cancer

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors

(2010) Paul J. Newey et al.   HUMAN MUTATION

DNA-based test: when and why to apply it to primary hyperparathyroidism clinical phenotypes

(2009) A. Falchetti et al.   JOURNAL OF INTERNAL MEDICINE

Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred

(2009) Maurizio Iacobone et al.   LANGENBECKS ARCHIVES OF SURGERY