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Items: 1 to 50 of 51

1.

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Gorvin CM, Frost M, Malinauskas T, Cranston T, Boon H, Siebold C, Jones EY, Hannan FM, Thakker RV.

Hum Mol Genet. 2018 Nov 1;27(21):3720-3733. doi: 10.1093/hmg/ddy263.

2.

An Online Hand Exercise Intervention for Adults With Rheumatoid Arthritis (mySARAH): Design, Development, and Usability Testing.

Srikesavan C, Williamson E, Cranston T, Hunter J, Adams J, Lamb SE.

J Med Internet Res. 2018 Jun 27;20(6):e10457. doi: 10.2196/10457.

3.

Pachydermoperiostosis Masquerading as Acromegaly.

Karimova MM, Halimova ZY, Urmanova YM, Korbonits M, Cranston T, Grossman AB.

J Endocr Soc. 2017 Jan 16;1(2):109-112. doi: 10.1210/js.2016-1084. eCollection 2017 Feb 1.

4.

A Web-Based Training Resource for Therapists to Deliver an Evidence-Based Exercise Program for Rheumatoid Arthritis of the Hand (iSARAH): Design, Development, and Usability Testing.

Srikesavan CS, Williamson E, Eldridge L, Heine P, Adams J, Cranston T, Lamb SE.

J Med Internet Res. 2017 Dec 13;19(12):e411. doi: 10.2196/jmir.8424.

5.

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.

Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV.

J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22.

6.

Technical Peer Review: Methods and Outcomes.

Keenan AM, Cranston T, Hill K, Stocker DJ.

J Nucl Med Technol. 2017 Dec;45(4):309-313. doi: 10.2967/jnmt.117.198473. Epub 2017 Aug 10. Review.

7.

Routine genetic screening with a multi-gene panel in patients with pheochromocytomas.

Sbardella E, Cranston T, Isidori AM, Shine B, Pal A, Jafar-Mohammadi B, Sadler G, Mihai R, Grossman AB.

Endocrine. 2018 Jan;59(1):175-182. doi: 10.1007/s12020-017-1310-9. Epub 2017 May 5.

PMID:
28477304
8.

Do patients with incidentally discovered bilateral adrenal nodules represent an early form of ARMC5-mediated bilateral macronodular hyperplasia?

Emms H, Tsirou I, Cranston T, Tsagarakis S, Grossman AB.

Endocrine. 2016 Sep;53(3):801-8. doi: 10.1007/s12020-016-0988-4. Epub 2016 Jun 15.

PMID:
27306888
9.

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.

10.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.

11.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.

12.

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M.

J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.

13.

A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation.

Ghazi AA, Khah AM, Kamani F, Zare K, Sadeghipour A, Hedayati M, Yeganeh MZ, Cranston T, Grossman A.

Hormones (Athens). 2014 Oct-Dec;13(4):568-73. doi: 10.14310/horm.2002.1500. Epub 2014 Nov 5.

14.

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C, Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB, Torpy DJ, Scott HS.

J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6.

PMID:
24905064
15.

CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.

Korpi-Hyövälti E, Cranston T, Ryhänen E, Arola J, Aittomäki K, Sane T, Thakker RV, Schalin-Jäntti C.

J Clin Endocrinol Metab. 2014 Sep;99(9):3044-8. doi: 10.1210/jc.2014-1481. Epub 2014 May 13.

16.

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.

17.

A patient with an apparently sporadic pheochromocytoma with a rearranged during transfection codon 635 variant: a mild form of multiple endocrine neoplasia type 2?

Huguet I, Cranston T, Walker L, Karavitaki N, Grossman AB.

Endocr Pract. 2014 Apr;20(4):e65-8. doi: 10.4158/EP13424.CR.

PMID:
24449676
18.

A comparison of methods for EGFR mutation testing in non-small cell lung cancer.

Young EC, Owens MM, Adebiyi I, Bedenham T, Butler R, Callaway J, Cranston T, Crosby C, Cree IA, Dutton L, Faulkes C, Faulkner C, Howard E, Knight J, Huang Y, Lavender L, Lazarou LP, Liu H, Mair D, Milano A, Sandell S, Skinner A, Wallace A, Williams M, Spivey V, Goodall J, Frampton J, Ellard S; Clinical Molecular Genetics Society (CMGS) Scientific Subcommittee.

Diagn Mol Pathol. 2013 Dec;22(4):190-5. doi: 10.1097/PDM.0b013e318294936c.

PMID:
24193010
19.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV.

N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.

20.

A complex endocrine conundrum.

Bano G, Siedel V, Beharry N, Wilson P, Cranston T, Hodgson S.

Fam Cancer. 2013 Sep;12(3):577-80. doi: 10.1007/s10689-012-9594-7.

PMID:
23242522
21.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV.

Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.

22.

Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.

Domingo E, Ramamoorthy R, Oukrif D, Rosmarin D, Presz M, Wang H, Pulker H, Lockstone H, Hveem T, Cranston T, Danielsen H, Novelli M, Davidson B, Xu ZZ, Molloy P, Johnstone E, Holmes C, Midgley R, Kerr D, Sieber O, Tomlinson I.

J Pathol. 2013 Feb;229(3):441-8. doi: 10.1002/path.4139.

23.

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

Downes SM, Packham E, Cranston T, Clouston P, Seller A, Németh AH.

Arch Ophthalmol. 2012 Nov;130(11):1486-90. doi: 10.1001/archophthalmol.2012.1697. No abstract available.

PMID:
23143460
24.

Confusing genes: a patient with MEN2A and Cushing's disease.

Naziat A, Karavitaki N, Thakker R, Ansorge O, Sadler G, Gleeson F, Cranston T, McCormack A, Grossman AB, Shine B.

Clin Endocrinol (Oxf). 2013 Jun;78(6):966-8. doi: 10.1111/cen.12072. Epub 2013 Apr 6. No abstract available.

PMID:
23072303
25.

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

Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.

PMID:
22422767
26.

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.

J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12.

PMID:
20463099
27.

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.

Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.

PMID:
20190276
28.

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.

Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188.

PMID:
20052758
29.

Efficient and accurate measurement of physical restraint use in acute care.

Fogel JF, Berkman CS, Merkel C, Cranston T, Leipzig RM.

Care Manag J. 2009;10(3):100-9.

PMID:
19772207
30.

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV.

J Clin Endocrinol Metab. 2009 Oct;94(10):3897-904. doi: 10.1210/jc.2009-0717. Epub 2009 Sep 1.

PMID:
19723756
31.

Putting agency nursing in the spotlight. Interview by Nic Paton.

Cranston T.

Nurs Times. 2007 Apr 3-9;103(14):20-1. No abstract available.

PMID:
17455512
32.

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.

Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306.

PMID:
16487440
33.

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS.

J Mol Med (Berl). 2006 Mar;84(3):203-14. Epub 2005 Dec 31.

PMID:
16389549
34.

Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.

Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJ, Tomlinson IP.

J Clin Oncol. 2004 Dec 15;22(24):4934-43. Erratum in: J Clin Oncol. 2005 May 20;23(15):3652.

PMID:
15611508
35.

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.

Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van't Hoff WG.

Eur J Pediatr. 2004 Oct;163(10):589-94.

PMID:
15241688
36.

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

Marteau T, Senior V, Humphries SE, Bobrow M, Cranston T, Crook MA, Day L, Fernandez M, Horne R, Iversen A, Jackson Z, Lynas J, Middleton-Price H, Savine R, Sikorski J, Watson M, Weinman J, Wierzbicki AS, Wray R; Genetic Risk Assessment for FH Trial Study Group.

Am J Med Genet A. 2004 Jul 30;128A(3):285-93.

PMID:
15216550
37.

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Grünewald S, Fairbanks L, Genet S, Cranston T, Hüsing J, Leonard JV, Champion MP.

J Inherit Metab Dis. 2004;27(2):179-86.

PMID:
15159648
38.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A.

J Med Genet. 2003 May;40(5):380-4. No abstract available.

39.

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels.

Whittall RA, Matheus S, Cranston T, Miller GJ, Humphries SE.

J Med Genet. 2002 Sep;39(9):e57. No abstract available.

40.

Outcomes following physical restraint reduction programs in two acute care hospitals.

Mion LC, Fogel J, Sandhu S, Palmer RM, Minnick AF, Cranston T, Bethoux F, Merkel C, Berkman CS, Leipzig R.

Jt Comm J Qual Improv. 2001 Nov;27(11):605-18.

PMID:
11708040
41.

X-linked lymphoproliferative disease: three atypical cases.

Nistala K, Gilmour KC, Cranston T, Davies EG, Goldblatt D, Gaspar HB, Jones AM.

Clin Exp Immunol. 2001 Oct;126(1):126-30.

42.

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD.

Hum Mutat. 2001 Oct;18(4):355-6.

PMID:
11668621
43.

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF.

Hum Mutat. 2001 Oct;18(4):255-63. Review.

PMID:
11668610
44.

A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.

Meaney C, Cranston T, Lee P, Genet S.

J Inherit Metab Dis. 2001 Aug;24(4):517-8.

PMID:
11596659
45.
46.

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W, Gilmour KC, Heath S, Ashton E, Cranston T, Thomas A, Finn A, Davies EG, Thrasher AJ, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Jun;113(4):861-5.

PMID:
11442475
47.

Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.

Gilmour KC, Cranston T, Loughlin S, Gwyther J, Lester T, Espanol T, Hernandez M, Savoldi G, Davies EG, Abinun M, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Mar;112(3):671-6.

PMID:
11260071
48.
49.

Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.

Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB.

Eur J Immunol. 2000 Jun;30(6):1691-7.

50.

The effect of exercise training on the severity and duration of a viral upper respiratory illness.

Weidner TG, Cranston T, Schurr T, Kaminsky LA.

Med Sci Sports Exerc. 1998 Nov;30(11):1578-83.

PMID:
9813869

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