J. Turner

发表

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

B. Harding, R. Thakker, I. Roberts, 2003, The Journal of clinical endocrinology and metabolism.

Compound heterozygous AIRE-1 mutations causing autoimmune polyendocrinopathy syndrome type 1

B. Harding, M. Nesbit, R. Thakker, 2004 .

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

T. Spector, B. Harding, R. Thakker, 2006, Clinical endocrinology.

Localization of gastrinomas by selective intra‐arterial calcium injection

R. Thakker, A. Wren, R. Thakker, 2002, Clinical endocrinology.

A legacy of tinnitus: multiple head and neck paragangliomas

R. Thakker, N. Martin, E. Maher, 2009, Rare tumors.

MicroRNA expression in a phosphaturic mesenchymal tumour

R. Ball, W. Fraser, I. McNamara, 2017, Bone reports.

Menin interacts directly with the homeobox-containing protein Pem.

C. Larsson, F. Piehl, W. V. D. Van de Ven, 2001, Biochemical and biophysical research communications.

Managing primary hyperparathyroidism in primary care

J. Turner, 2010, Drug and Therapeutics Bulletin.

Beware of bone pain with bisphosphonates

W. Fraser, V. Srinivas, J. Turner, 2019, BMJ Case Reports.

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

B. Harding, M. Nesbit, R. Thakker, 2003, The Journal of clinical endocrinology and metabolism.

Hypercalcaemia - presentation and management .

J. Turner, 2017, Clinical medicine.

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)

R. Thakker, P. Turnpenny, P. Christie, 2010, 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.

J. Connell, B. Harding, Jenny J. Yang, 2012, Human molecular genetics.

Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1

S. Ellard, S. Forbes, B. Harding, 2002 .

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

S. Forbes, B. Harding, R. Trembath, 2003, Clinical endocrinology.

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

M. Nesbit, R. Thakker, A. Conigrave, 2010, European Journal of Human Genetics.

SOCIETY FOR ENDOCRINOLOGY ENDOCRINE EMERGENCY GUIDANCE: Emergency management of acute hypocalcaemia in adult patients.

P. Selby, N. Gittoes, J. Turner, 2016, Endocrine connections.

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

A. Hattersley, S. Ellard, S. Forbes, 2002, The Journal of clinical endocrinology and metabolism.

Hypercalcaemia and primary hyperparathyroidism

J. Turner, 2005 .