Bowl MR - Search Results

1

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV. Mirczuk SM, et al. Among authors: bowl mr. J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12. J Clin Endocrinol Metab. 2010. PMID: 20463099

2

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Bradley KJ, et al. Among authors: bowl mr. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x. Clin Endocrinol (Oxf). 2006. PMID: 16487440

3

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276

4

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV. Nesbit MA, et al. Among authors: bowl mr. J Biol Chem. 2004 May 21;279(21):22624-34. doi: 10.1074/jbc.M401797200. Epub 2004 Feb 24. J Biol Chem. 2004. PMID: 14985365 Free article.

5

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV. Andrew Nesbit M, et al. Among authors: bowl mr. Genomics. 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003. Genomics. 2004. PMID: 15533723

6

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV. Bowl MR, et al. J Clin Invest. 2005 Oct;115(10):2822-31. doi: 10.1172/JCI24156. Epub 2005 Sep 15. J Clin Invest. 2005. PMID: 16167084 Free PMC article.

7

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

Harding B, Curley AJ, Hannan FM, Christie PT, Bowl MR, Turner JJ, Barber M, Gillham-Nasenya I, Hampson G, Spector TD, Thakker RV. Harding B, et al. Among authors: bowl mr. Clin Endocrinol (Oxf). 2006 Nov;65(5):598-605. doi: 10.1111/j.1365-2265.2006.02634.x. Clin Endocrinol (Oxf). 2006. PMID: 17054460

8

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

Lemos MC, Harding B, Reed AA, Jeyabalan J, Walls GV, Bowl MR, Sharpe J, Wedden S, Moss JE, Ross A, Davidson D, Thakker RV. Lemos MC, et al. Among authors: bowl mr. J Endocrinol. 2009 Oct;203(1):133-42. doi: 10.1677/JOE-09-0124. Epub 2009 Jul 8. J Endocrinol. 2009. PMID: 19587266

9

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S, Johnson PR, Phillips RR, Ryan FJ, Shine B, Bowl MR, Thakker RV. Newey PJ, et al. Among authors: bowl mr. J Clin Endocrinol Metab. 2009 Oct;94(10):3640-6. doi: 10.1210/jc.2009-0564. Epub 2009 Jul 21. J Clin Endocrinol Metab. 2009. PMID: 19622622

10

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

Newey PJ, Bowl MR, Cranston T, Thakker RV. Newey PJ, et al. Among authors: bowl mr. Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188. Hum Mutat. 2010. PMID: 20052758

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