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2018 5
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Page 1
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS. Tischkowitz M, et al. Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12. Eur J Hum Genet. 2020. PMID: 32533092 Free PMC article.
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar … See abstract for full author list ➔ Tobias DK, et al. Nat Med. 2023 Oct;29(10):2438-2457. doi: 10.1038/s41591-023-02502-5. Epub 2023 Oct 5. Nat Med. 2023. PMID: 37794253 Free PMC article. Review.
Genome-Wide Association Study of NAFLD Using Electronic Health Records.
Fairfield CJ, Drake TM, Pius R, Bretherick AD, Campbell A, Clark DW, Fallowfield JA, Hayward C, Henderson NC, Joshi PK, Mills NL, Porteous DJ, Ramachandran P, Semple RK, Shaw CA, Sudlow CLM, Timmers PRHJ, Wilson JF, Wigmore SJ, Harrison EM, Spiliopoulou A. Fairfield CJ, et al. Hepatol Commun. 2022 Feb;6(2):297-308. doi: 10.1002/hep4.1805. Epub 2021 Sep 17. Hepatol Commun. 2022. PMID: 34535985 Free PMC article.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Precision subclassification of type 2 diabetes: a systematic review.
Misra S, Wagner R, Ozkan B, Schön M, Sevilla-Gonzalez M, Prystupa K, Wang CC, Kreienkamp RJ, Cromer SJ, Rooney MR, Duan D, Thuesen ACB, Wallace AS, Leong A, Deutsch AJ, Andersen MK, Billings LK, Eckel RH, Sheu WH, Hansen T, Stefan N, Goodarzi MO, Ray D, Selvin E, Florez JC; ADA/EASD PMDI; Meigs JB, Udler MS. Misra S, et al. Commun Med (Lond). 2023 Oct 5;3(1):138. doi: 10.1038/s43856-023-00360-3. Commun Med (Lond). 2023. PMID: 37798471 Free PMC article.
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.
Madsen RR, Vanhaesebroeck B, Semple RK. Madsen RR, et al. Trends Mol Med. 2018 Oct;24(10):856-870. doi: 10.1016/j.molmed.2018.08.003. Epub 2018 Sep 6. Trends Mol Med. 2018. PMID: 30197175 Free PMC article. Review.
37 results