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Items: 1 to 20 of 1501

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1.

A decision algorithm to identify patients with high probability of monogenic diabetes due to HNF1A mutations.

Szopa M, Klupa T, Kapusta M, Matejko B, Ucieklak D, Glodzik W, Zapala B, Sani CM, Hohendorff J, Malecki MT, Skupien J.

Endocrine. 2019 Feb 18. doi: 10.1007/s12020-019-01863-7. [Epub ahead of print]

PMID:
30778899
2.

MODY 3 diabetes, not every early onset diabetes is type 1 diabetes.

Sánchez Malo MJ, Arrudi Moreno M, Lou Francés GM.

Endocrinol Diabetes Nutr. 2019 Feb 12. pii: S2530-0164(19)30019-9. doi: 10.1016/j.endinu.2018.12.003. [Epub ahead of print] English, Spanish. No abstract available.

PMID:
30770229
3.

Body mass index and C-peptide are important for the promptly differential diagnosis of maturity-onset diabetes from familial type 2 diabetes in outpatient clinic.

Wu HX, Tang J, Li L, Liu SP, Zhou ZG, Yang JX, Yan DW, Zhou HD.

Endocr J. 2019 Feb 13. doi: 10.1507/endocrj.EJ18-0560. [Epub ahead of print]

4.

Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation.

Cattoni A, Jackson C, Bain M, Houghton J, Wei C.

Pediatr Diabetes. 2019 Feb 7. doi: 10.1111/pedi.12826. [Epub ahead of print]

PMID:
30734462
5.

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

Apperley L, Giri D, Houghton JAL, Flanagan SE, Didi M, Senniappan S.

J Pediatr Endocrinol Metab. 2019 Feb 7. pii: /j/jpem.ahead-of-print/jpem-2018-0389/jpem-2018-0389.xml. doi: 10.1515/jpem-2018-0389. [Epub ahead of print]

PMID:
30730840
6.

An Irish National Diabetes in Pregnancy Audit: aiming for best outcomes for women with diabetes.

Egan AM, Brassill MJ, Brosnan E, Carmody L, Clarke H, Coogan Kelly C, Culliney L, Durkan M, Fenlon M, Ferry P, Hanlon G, Higgins T, Hoashi S, Khamis A, Kinsley B, Kinsley T, Kirwan B, Liew A, McGurk C, McHugh C, Murphy MS, Murphy P, O'Halloran D, O'Mahony L, O'Sullivan E, Nolan M, Peter M, Roberts G, Smyth A, Todd M, Tuthill A, Wan Mahmood WA, Yousif O, Dunne FP; National Diabetes in Pregnancy Audit working group.

Diabet Med. 2019 Feb 2. doi: 10.1111/dme.13923. [Epub ahead of print]

PMID:
30710451
7.

Precision Diabetes is Slowly Becoming a Reality.

Mohan V, Radha V.

Med Princ Pract. 2019 Jan 27. doi: 10.1159/000497241. [Epub ahead of print] Review.

8.

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Stekelenburg C, Gerster K, Blouin JL, Lang-Muritano M, Guipponi M, Santoni F, Schwitzgebel VM.

Pediatr Diabetes. 2019 Jan 26. doi: 10.1111/pedi.12814. [Epub ahead of print]

PMID:
30684292
9.

HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S.

Pediatr Nephrol. 2019 Jan 21. doi: 10.1007/s00467-018-4188-8. [Epub ahead of print]

PMID:
30666461
10.

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, Hattersley AT, Weedon MN.

Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18.

11.

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.

Dallali H, Pezzilli S, Hechmi M, Sallem OK, Elouej S, Jmel H, Ben Halima Y, Chargui M, Gharbi M, Mercuri L, Alberico F, Mazza T, Bahlous A, Ben Ahmed M, Jamoussi H, Abid A, Trischitta V, Abdelhak S, Prudente S, Kefi R.

Acta Diabetol. 2019 Jan 17. doi: 10.1007/s00592-018-01283-5. [Epub ahead of print]

PMID:
30656436
12.

Dimerization defective MODY mutations of hepatocyte nuclear factor 4α.

Singh P, Tung SP, Han EH, Lee IK, Chi YI.

Mutat Res. 2019 Jan 9;814:1-6. doi: 10.1016/j.mrfmmm.2019.01.002. [Epub ahead of print]

PMID:
30648609
13.

[Hepatocellular carcinoma in an inflammatory adenoma with β-catenin mutation in a patient with hepatocellular adenomatosis due to germline mutation in HNF1α].

Ridder DA, Duret D, Wörns MA, Schotten S, Heinrich S, Kloth M, Springer E, Roth W, Straub BK.

Z Gastroenterol. 2019 Jan;57(1):46-51. doi: 10.1055/a-0821-7154. Epub 2019 Jan 14. German.

PMID:
30641602
14.

Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.

Ohara Y, Okada Y, Yamada T, Sugawara K, Kanatani M, Fukuoka H, Hirota Y, Maeda T, Morisada N, Iijima K, Ogawa W.

J Diabetes Investig. 2019 Jan 13. doi: 10.1111/jdi.13004. [Epub ahead of print]

15.

Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes.

Niazi RK, Sun J, Have CT, Hollensted M, Linneberg A, Pedersen O, Nielsen JS, Rungby J, Grarup N, Hansen T, Gjesing AP.

PLoS One. 2019 Jan 10;14(1):e0210114. doi: 10.1371/journal.pone.0210114. eCollection 2019.

16.

Diabetes as a communicable disease.

Kalra S, Kumar A.

J Pak Med Assoc. 2019 Jan;69(1):127-129.

17.

An evolving spectrum of diabetes in a woman with GCK-MODY.

Garrahy A, Mijares Zamuner MB, Byrne MM.

Endocrinol Diabetes Metab Case Rep. 2019 Jan 3;2019. pii: EDM180145. doi: 10.1530/EDM-18-0145. [Epub ahead of print]

18.

KLF11 (Kruüppel-Like Factor 11) Inhibits Arterial Thrombosis via Suppression of Tissue Factor in the Vascular Wall.

Liang W, Fan Y, Lu H, Chang Z, Hu W, Sun J, Wang H, Zhu T, Wang J, Adili R, Garcia-Barrio MT, Holinstat M, Eitzman D, Zhang J, Chen YE.

Arterioscler Thromb Vasc Biol. 2019 Jan 3:ATVBAHA118311612. doi: 10.1161/ATVBAHA.118.311612. [Epub ahead of print]

PMID:
30602303
19.

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

Wang Z, Diao C, Liu Y, Li M, Zheng J, Zhang Q, Yu M, Zhang H, Ping F, Li M, Xiao X.

J Diabetes Investig. 2018 Dec 28. doi: 10.1111/jdi.13001. [Epub ahead of print]

20.

From Hyper- to Hypoinsulinemia and Diabetes: Effect of KCNH6 on Insulin Secretion.

Yang JK, Lu J, Yuan SS, Asan, Cao X, Qiu HY, Shi TT, Yang FY, Li Q, Liu CP, Wu Q, Wang YH, Huang HX, Kayoumu A, Feng JP, Xie RR, Zhu XR, Liu C, Yang GR, Zhang MR, Xie CL, Chen C, Zhang B, Liu G, Zhang XQ, Xu A.

Cell Rep. 2018 Dec 26;25(13):3800-3810.e6. doi: 10.1016/j.celrep.2018.12.005.

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