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Results: 1 to 20 of 73

1.

Successful treatment of type B insulin resistance with rituximab.

Manikas ED, Isaac I, Semple RK, Malek R, Führer D, Moeller LC.

J Clin Endocrinol Metab. 2015 Feb 12:jc20143552. [Epub ahead of print]

PMID:
25675382
2.

Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance.

Murphy R, Smith G, Isaac I, Hutchinson D, Semple RK.

Diabet Med. 2015 Jan 23. doi: 10.1111/dme.12707. [Epub ahead of print]

PMID:
25644898
3.

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.

Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

PMID:
25557259
4.

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.

Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O'Rahilly S, Gorden P, Semple RK, Bockenhauer D.

Nephron Physiol. 2014 Oct 24. [Epub ahead of print]

PMID:
25358339
5.

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes.

Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, Borecki IB, Knowles JW, Yerges-Armstrong L, Ohlsson C, Perry JR, Chambers JC, Kooner JS, Franceschini N, Langenberg C, Hivert MF, Dastani Z, Richards JB, Semple RK, Frayling TM.

Diabetes. 2014 Dec;63(12):4369-77. doi: 10.2337/db14-0318. Epub 2014 Jul 21.

PMID:
25048195
6.

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.

Scott RA, Fall T, Pasko D, Barker A, Sharp SJ, Arriola L, Balkau B, Barricarte A, Barroso I, Boeing H, Clavel-Chapelon F, Crowe FL, Dekker JM, Fagherazzi G, Ferrannini E, Forouhi NG, Franks PW, Gavrila D, Giedraitis V, Grioni S, Groop LC, Kaaks R, Key TJ, Kühn T, Lotta LA, Nilsson PM, Overvad K, Palli D, Panico S, Quirós JR, Rolandsson O, Roswall N, Sacerdote C, Sala N, Sánchez MJ, Schulze MB, Siddiq A, Slimani N, Sluijs I, Spijkerman AM, Tjonneland A, Tumino R, van der A DL, Yaghootkar H; RISC Study Group; EPIC-InterAct Consortium, McCarthy MI, Semple RK, Riboli E, Walker M, Ingelsson E, Frayling TM, Savage DB, Langenberg C, Wareham NJ.

Diabetes. 2014 Dec;63(12):4378-87. doi: 10.2337/db14-0319. Epub 2014 Jun 19.

7.

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK.

Clin Endocrinol (Oxf). 2014 Dec;81(6):855-61. doi: 10.1111/cen.12517. Epub 2014 Jul 2.

PMID:
24890200
8.

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB.

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2.

9.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

10.

Analytical and clinical challenges in a patient with concurrent type 1 diabetes, subcutaneous insulin resistance and insulin autoimmune syndrome.

Jassam N, Amin N, Holland P, Semple RK, Halsall DJ, Wark G, Barth JH.

Endocrinol Diabetes Metab Case Rep. 2014;2014:130086. doi: 10.1530/EDM-13-0086. Epub 2014 Apr 1.

11.

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.

Parker VE, Semple RK.

Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct. Review.

12.

Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.

Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert MF, Warren LL, Stancáková A, Buxbaum SG, Lyytikäinen LP, Henneman P, Wu Y, Cheung CY, Pankow JS, Jackson AU, Gustafsson S, Zhao JH, Ballantyne CM, Xie W, Bergman RN, Boehnke M, el Bouazzaoui F, Collins FS, Dunn SH, Dupuis J, Forouhi NG, Gillson C, Hattersley AT, Hong J, Kähönen M, Kuusisto J, Kedenko L, Kronenberg F, Doria A, Assimes TL, Ferrannini E, Hansen T, Hao K, Häring H, Knowles JW, Lindgren CM, Nolan JJ, Paananen J, Pedersen O, Quertermous T, Smith U; GENESIS Consortium; RISC Consortium, Lehtimäki T, Liu CT, Loos RJ, McCarthy MI, Morris AD, Vasan RS, Spector TD, Teslovich TM, Tuomilehto J, van Dijk KW, Viikari JS, Zhu N, Langenberg C, Ingelsson E, Semple RK, Sinaiko AR, Palmer CN, Walker M, Lam KS, Paulweber B, Mohlke KL, van Duijn C, Raitakari OT, Bidulescu A, Wareham NJ, Laakso M, Waterworth DM, Lawlor DA, Meigs JB, Richards JB, Frayling TM.

Diabetes. 2013 Oct;62(10):3589-98. doi: 10.2337/db13-0128. Epub 2013 Jul 8. Review.

13.

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.

Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Rajesh NG, Negi VS, Gulati R.

Int J Dermatol. 2013 Jul;52(7):820-3. doi: 10.1111/j.1365-4632.2012.05838.x. No abstract available.

PMID:
23789599
14.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16.

15.

Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.

Ramanathan N, Ahmed M, Raffan E, Stewart CL, O'Rahilly S, Semple RK, Raef H, Rochford JJ.

JIMD Rep. 2013;9:73-80. doi: 10.1007/8904_2012_181. Epub 2012 Oct 21.

16.

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Parameswaran N, Negi VS, Ramassamy S.

Int J Dermatol. 2013 Feb;52(2):182-5. doi: 10.1111/j.1365-4632.2012.05665.x.

PMID:
23347304
17.

Severe insulin resistance and hypertriglyceridemia after childhood total body irradiation.

Mayson SE, Parker VE, Schutta MH, Semple RK, Rickels MR.

Endocr Pract. 2013 Jan-Feb;19(1):51-8. doi: 10.4158/EP12115.OR.

PMID:
23186952
18.

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

Nobile S, Semple RK, Carnielli VP.

J Pediatr Endocrinol Metab. 2012;25(3-4):363-6.

PMID:
22768670
19.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.

Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.

20.

Metabolic insights from extreme human insulin resistance phenotypes.

Stears A, O'Rahilly S, Semple RK, Savage DB.

Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):145-57. doi: 10.1016/j.beem.2011.09.003. Review.

PMID:
22498245
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