Spondyloepiphyseal dysplasia tarda (SEDT)-associated sedlin mutations disrupt interactions with C-MYC promoter-binding protein 1 (MBP-1), pituitary homeobox 1 (PITX1) and stercidog... by Nesbit, M, Jeyabalan, J, Ingraham, H, Thakker, R

Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1. by Bowl, MR, Turner, J, Nesbit, M, Harding, B, Thakker, R

A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies by Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. by Christie, P, Harding, B, Nesbit, M, Whyte, M, Thakker, R

Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (A... by Graham, U, Nesbit, M, Hannan, F, Howles, SA, Thakker, R, Hunter, S

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism by Mannstadt, M, Nesbit, M, Howles, S, Rogers, A, Thakker, R, Jueppner, H

Characterization of a novel member of the Db1 family of oncogenes. by Rodrigues, N, Theodosiou, A, Nesbit, M, Tandle, A, Saranath, D, Davies, K

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. by Gaynor, K, Grigorieva, I, Nesbit, M, Cranston, T, Gomes, T, Gortner, L, Thakker, R

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases by Hampson, G, Bowl, MR, Nesbit, M, Giannoulis, M, Jones, R, Thakker, R

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene. by Christie, P, Harding, B, Nesbit, M, Eddy, M, Whyte, M, Thakker, R

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. by Jeyabalan, J, Nesbit, M, Galvanovskis, J, Callaghan, R, Rorsman, P, Thakker, R

SEDLIN forms homodimers: Characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1 by Jeyabalan, J, Nesbit, M, Galvanovskis, J, Callaghan, R, Rorsman, P, Thakker, R

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. by Nesbit, M, Hannan, F, Graham, U, Whyte, M, Morrison, P, Hunter, S, Thakker, R

A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2) by Gorvin, C, Cranston, T, Hannan, F, Rust, N, Qureshi, A, Nesbit, M, Thakker, R

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. by Andrew Nesbit, M, Bowl, MR, Harding, B, Schlessinger, D, Whyte, M, Thakker, R

Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. by Hough, T, Bogani, D, Cheeseman, M, Favor, J, Nesbit, M, Thakker, R, Lyon, M

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. by Hannan, F, Nesbit, M, Christie, P, Fratter, C, Dudley, N, Sadler, G, Thakker, R

Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. by Rodrigues, N, Theodosiou, A, Nesbit, M, Campbell, L, Tandle, A, Saranath, D, Davies, K

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25. by Bowl, MR, Nesbit, M, Harding, B, Levy, E, Schlessinger, D, Whyte, M, Thakker, R

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. by Mirczuk, S, Bowl, MR, Nesbit, M, Cranston, T, Fratter, C, Allgrove, J, Brain, C, Thakker, R