Search details
1.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38131308
2.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35260474
3.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
J Med Genet
; 57(12): 829-834, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32170000
4.
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Hum Mol Genet
; 27(21): 3720-3733, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30052933
5.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hum Mol Genet
; 24(18): 5079-92, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26082470
6.
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
N Engl J Med
; 368(26): 2476-2486, 2013 Jun 27.
Article
in English
| MEDLINE | ID: mdl-23802516
7.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hum Mol Genet
; 21(12): 2768-78, 2012 Jun 15.
Article
in English
| MEDLINE | ID: mdl-22422767
8.
Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.
J Pathol
; 229(3): 441-8, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23165447
9.
A patient with an apparently sporadic pheochromocytoma with a rearranged during transfection codon 635 variant: a mild form of multiple endocrine neoplasia type 2?
Endocr Pract
; 20(4): e65-8, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24449676
10.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
J Bone Miner Res
; 38(6): 907-917, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36970776
11.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Hum Mol Genet
; 19(10): 2028-38, 2010 May 15.
Article
in English
| MEDLINE | ID: mdl-20190276
12.
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Eur J Endocrinol
; 187(1): 111-122, 2022 May 24.
Article
in English
| MEDLINE | ID: mdl-35521792
13.
Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.
Surgery
; 171(1): 77-87, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34183184
14.
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.
J Bone Miner Res
; 36(1): 100-109, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32780883
15.
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
Hum Mutat
; 31(3): 295-307, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20052758
16.
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
J Endocr Soc
; 4(11): bvaa142, 2020 Nov 01.
Article
in English
| MEDLINE | ID: mdl-33150274
17.
Activating Mutations of the G-protein Subunit αâ11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Article
in English
| MEDLINE | ID: mdl-31820785
18.
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Article
in English
| MEDLINE | ID: mdl-32150253
19.
Confusing genes: a patient with MEN2A and Cushing's disease.
Clin Endocrinol (Oxf)
; 78(6): 966-8, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23072303
20.
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.
J Bone Miner Res
; 33(1): 32-41, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28833550