Mutations Affecting G-Protein Subunit α₁₁in Hypercalcemia and Hypocalcemia

M. Andrew Nesbit, Fadil Hannan, Sarah Howles, +7

New England Journal of Medicine

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

M. Andrew Nesbit, Fadil Hannan, Sarah Howles, +13

Nature Genetics

Molecular PhysiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +2

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

Theresa M. Marteau, Victoria Senior, Steve E. Humphries, +16

American Journal of Medical Genetics Part A

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

Paul Newey, Michael R. Bowl, Treena Cranston, +1

Human Mutation

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Fadil Hannan, M. Andrew Nesbit, C. Zhang, +23

Human Molecular Genetics

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Judit Dénes, Francesca Swords, Eleanor Rattenberry, +48

The Journal of Clinical Endocrinology & Metabolism

Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic

Lara Lipton, Victoria Johnson, C. Cummings, +9

Journal of Clinical Oncology

<i>ARMC5</i>Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia

Lucia Gagliardi, Andreas Schreiber, Christopher N Hahn, +13

The Journal of Clinical Endocrinology & Metabolism

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Karin Bradley, Branca Cavaco, Michael R. Bowl, +11

Clinical Endocrinology

Defective expression of the interleukin-2/interleukin-15 receptor β subunit leads to a natural killer cell–deficient form of severe combined immunodeficiency

Kimberly Gilmour, Hodaka Fujii, Treena Cranston, +3

Blood