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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. Nicholas AK, et al. Among authors: puthi v. J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. doi: 10.1210/jc.2016-1879. Epub 2016 Aug 15. J Clin Endocrinol Metab. 2016. PMID: 27525530 Free PMC article.
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
Boonen SE, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK. Boonen SE, et al. Among authors: puthi v. Diabetes Care. 2013 Mar;36(3):505-12. doi: 10.2337/dc12-0700. Epub 2012 Nov 12. Diabetes Care. 2013. PMID: 23150280 Free PMC article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Views of children with diabetes from underserved communities, and their families on diabetes, glycaemic control and healthcare provision: A qualitative evidence synthesis.
Moore TH, Dawson S, Wheeler J, Hamilton-Shield J, Barrett TG, Redwood S, Litchfield I, Greenfield SM, Searle A; Diversity in Diabetes (DID) Consortium Members. Moore TH, et al. Diabet Med. 2023 Nov;40(11):e15197. doi: 10.1111/dme.15197. Epub 2023 Aug 27. Diabet Med. 2023. PMID: 37573564 Review.
Gene expression signature predicts rate of type 1 diabetes progression.
Suomi T, Starskaia I, Kalim UU, Rasool O, Jaakkola MK, Grönroos T, Välikangas T, Brorsson C, Mazzoni G, Bruggraber S, Overbergh L, Dunger D, Peakman M, Chmura P, Brunak S, Schulte AM, Mathieu C, Knip M, Lahesmaa R, Elo LL; INNODIA Consortium. Suomi T, et al. EBioMedicine. 2023 Jun;92:104625. doi: 10.1016/j.ebiom.2023.104625. Epub 2023 May 22. EBioMedicine. 2023. PMID: 37224769 Free PMC article.
Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort.
Bravis V, Kaur A, Walkey HC, Godsland IF, Misra S, Bingley PJ, Williams AJK, Dunger DB, Dayan CM, Peakman M, Oliver NS, Johnston DG; ADDRESS-2 Management Committee, Patient Advocate Group and Investigators. Bravis V, et al. BMJ Open. 2018 Apr 4;8(4):e020904. doi: 10.1136/bmjopen-2017-020904. BMJ Open. 2018. PMID: 29622578 Free PMC article.
My child has smelly urine.
Felix P, Puthi V, Aslam M. Felix P, et al. Among authors: puthi v. Pediatr Nephrol. 2012 Jul;27(7):1087, 1089-90. doi: 10.1007/s00467-011-2021-8. Epub 2011 Oct 29. Pediatr Nephrol. 2012. PMID: 22038199 No abstract available.