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Items: 1 to 20 of 95

1.

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, Kanoni S, Kumar A, Lagou V, Langenberg C, Luan J, Lindgren CM, Müller-Nurasyid M, Pechlivanis S, Rayner NW, Scott LJ, Wiltshire S, Yengo L, Kinnunen L, Rossin EJ, Raychaudhuri S, Johnson AD, Dimas AS, Loos RJ, Vedantam S, Chen H, Florez JC, Fox C, Liu CT, Rybin D, Couper DJ, Kao WH, Li M, Cornelis MC, Kraft P, Sun Q, van Dam RM, Stringham HM, Chines PS, Fischer K, Fontanillas P, Holmen OL, Hunt SE, Jackson AU, Kong A, Lawrence R, Meyer J, Perry JR, Platou CG, Potter S, Rehnberg E, Robertson N, Sivapalaratnam S, Stančáková A, Stirrups K, Thorleifsson G, Tikkanen E, Wood AR, Almgren P, Atalay M, Benediktsson R, Bonnycastle LL, Burtt N, Carey J, Charpentier G, Crenshaw AT, Doney AS, Dorkhan M, Edkins S, Emilsson V, Eury E, Forsen T, Gertow K, Gigante B, Grant GB, Groves CJ, Guiducci C, Herder C, Hreidarsson AB, Hui J, James A, Jonsson A, Rathmann W, Klopp N, Kravic J, Krjutškov K, Langford C, Leander K, Lindholm E, Lobbens S, Männistö S, Mirza G, Mühleisen TW, Musk B, Parkin M, Rallidis L, Saramies J, Sennblad B, Shah S, Sigurðsson G, Silveira A, Steinbach G, Thorand B, Trakalo J, Veglia F, Wennauer R, Winckler W, Zabaneh D, Campbell H, van Duijn C, Uitterlinden AG, Hofman A, Sijbrands E, Abecasis GR, Owen KR, Zeggini E, Trip MD, Forouhi NG, Syvänen AC, Eriksson JG, Peltonen L, Nöthen MM, Balkau B, Palmer CN, Lyssenko V, Tuomi T, Isomaa B, Hunter DJ, Qi L; Wellcome Trust Case Control Consortium.; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators.; Genetic Investigation of ANthropometric Traits (GIANT) Consortium.; Asian Genetic Epidemiology Network–Type 2 Diabetes (AGEN-T2D) Consortium.; South Asian Type 2 Diabetes (SAT2D) Consortium., Shuldiner AR, Roden M, Barroso I, Wilsgaard T, Beilby J, Hovingh K, Price JF, Wilson JF, Rauramaa R, Lakka TA, Lind L, Dedoussis G, Njølstad I, Pedersen NL, Khaw KT, Wareham NJ, Keinanen-Kiukaanniemi SM, Saaristo TE, Korpi-Hyövälti E, Saltevo J, Laakso M, Kuusisto J, Metspalu A, Collins FS, Mohlke KL, Bergman RN, Tuomilehto J, Boehm BO, Gieger C, Hveem K, Cauchi S, Froguel P, Baldassarre D, Tremoli E, Humphries SE, Saleheen D, Danesh J, Ingelsson E, Ripatti S, Salomaa V, Erbel R, Jöckel KH, Moebus S, Peters A, Illig T, de Faire U, Hamsten A, Morris AD, Donnelly PJ, Frayling TM, Hattersley AT, Boerwinkle E, Melander O, Kathiresan S, Nilsson PM, Deloukas P, Thorsteinsdottir U, Groop LC, Stefansson K, Hu F, Pankow JS, Dupuis J, Meigs JB, Altshuler D, Boehnke M, McCarthy MI; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium..

Nat Genet. 2012 Sep;44(9):981-90. doi: 10.1038/ng.2383.

3.

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P.

PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423.

4.

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

Oçal G, Flanagan SE, Hacihamdioğlu B, Berberoğlu M, Siklar Z, Ellard S, Savas Erdeve S, Okulu E, Akin IM, Atasay B, Arsan S, Yağmurlu A.

J Pediatr Endocrinol Metab. 2011;24(11-12):1019-23.

PMID:
22308858
5.

Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism.

Beltrand J, Caquard M, Arnoux JB, Laborde K, Velho G, Verkarre V, Rahier J, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ, de Lonlay P.

Diabetes Care. 2012 Feb;35(2):198-203. doi: 10.2337/dc11-1296.

6.

The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies.

Gong B, Yu J, Li H, Li W, Tong X.

DNA Cell Biol. 2012 May;31(5):801-10. doi: 10.1089/dna.2011.1445.

PMID:
22082043
7.

Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy.

Sempoux C, Capito C, Bellanné-Chantelot C, Verkarre V, de Lonlay P, Aigrain Y, Fekete C, Guiot Y, Rahier J.

J Clin Endocrinol Metab. 2011 Dec;96(12):3785-93. doi: 10.1210/jc.2010-3032.

PMID:
21956412
8.

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

Glaser B, Blech I, Krakinovsky Y, Ekstein J, Gillis D, Mazor-Aronovitch K, Landau H, Abeliovich D.

Genet Med. 2011 Oct;13(10):891-4. doi: 10.1097/GIM.0b013e31821fea33.

PMID:
21716120
10.

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.

Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng SL, Stanley CA.

Diabetes. 2011 Jun;60(6):1797-804. doi: 10.2337/db10-1631. Erratum in: Diabetes. 2011 Nov;60(11):3097.

11.

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S.

J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. doi: 10.1210/jc.2010-1906.

12.

Glucose metabolism and neurological outcome in congenital hyperinsulinism.

Ludwig A, Ziegenhorn K, Empting S, Meissner T, Marquard J, Holl R; Diabetes Patienten-Verlaufsdokumentationssystem (DPV) Group., Mohnike K.

Semin Pediatr Surg. 2011 Feb;20(1):45-9. doi: 10.1053/j.sempedsurg.2010.10.005.

PMID:
21186004
13.

Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.

Stanley CA.

Neurochem Int. 2011 Sep;59(4):465-72. doi: 10.1016/j.neuint.2010.11.017. Review.

14.

Large islets, beta-cell proliferation, and a glucokinase mutation.

Kassem S, Bhandari S, Rodríguez-Bada P, Motaghedi R, Heyman M, García-Gimeno MA, Cobo-Vuilleumier N, Sanz P, Maclaren NK, Rahier J, Glaser B, Cuesta-Muñoz AL.

N Engl J Med. 2010 Apr 8;362(14):1348-50. doi: 10.1056/NEJMc0909845. No abstract available. Erratum in: N Engl J Med. 2010 Nov 25;363(22):2178.

15.

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S.

Eur J Endocrinol. 2010 May;162(5):987-92. doi: 10.1530/EJE-09-0861.

16.

Variation in the UCP2 and UCP3 genes associates with abdominal obesity and serum lipids: the Finnish Diabetes Prevention Study.

Salopuro T, Pulkkinen L, Lindström J, Kolehmainen M, Tolppanen AM, Eriksson JG, Valle TT, Aunola S, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Tuomilehto J, Laakso M, Uusitupa M.

BMC Med Genet. 2009 Sep 21;10:94. doi: 10.1186/1471-2350-10-94.

17.

Surgical versus non-surgical treatment of congenital hyperinsulinism.

Mazor-Aronovitch K, Landau H, Gillis D.

Pediatr Endocrinol Rev. 2009 Mar;6(3):424-30. Review.

PMID:
19396028
18.

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA.

Diabetes. 2009 Jun;58(6):1419-27. doi: 10.2337/db08-1792.

19.

Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.

Di Candia S, Gessi A, Pepe G, Sogno Valin P, Mangano E, Chiumello G, Gianolli L, Proverbio MC, Mora S.

Eur J Endocrinol. 2009 Jun;160(6):1019-23. doi: 10.1530/EJE-08-0945.

20.

Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

Kapoor RR, James C, Hussain K.

Nat Clin Pract Endocrinol Metab. 2009 Feb;5(2):101-12. doi: 10.1038/ncpendmet1046. Review. Erratum in: Nat Clin Pract Endocrinol Metab. 2009 Mar;5(3):180.

PMID:
19165222
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