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21 results

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Page 1
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Among authors: sanyoura m. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. Aboud Syriani D, et al. Among authors: sanyoura m. Neurol Genet. 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582864 Free PMC article.
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B, Campagnolo É, Spineli-Silva S, de Leeuw N, Correia-Costa GR, Pessoa A, de Souza CFM, Stevens C, Javaher P, Scallet HF, Mohr J, Biskup S, Herkert JC, Pfundt R, Mehta L, Rekab A, Elloumi HZ, Sanyoura M, Maciel-Guerra AT, Gil-da-Silva-Lopes VL, Dos Santos AM, Vieira TP. Schincariol-Manhe B, et al. Among authors: sanyoura m. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01695-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333428
Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry.
Bowden TL, Letourneau-Freiberg LR, Kandasamy B, Sanyoura M, Tian P, Harris AG, Bell GI, Philipson LH, Naylor RN, Greeley SAW. Bowden TL, et al. Among authors: sanyoura m. Front Clin Diabetes Healthc. 2021 Nov;2:735548. doi: 10.3389/fcdhc.2021.735548. Epub 2021 Nov 5. Front Clin Diabetes Healthc. 2021. PMID: 36330312 Free PMC article.
Integrated Analysis of the Pancreas and Islets Reveals Unexpected Findings in Human Male With Type 1 Diabetes.
Haliyur R, Walker JT, Sanyoura M, Reihsmann CV, Shrestha S, Aramandla R, Poffenberger G, Ramirez AH, Redick SD, Babon JAB, Prasad N, Hegele RA, Kent SC, Harlan DM, Bottino R, Philipson LH, Brissova M, Powers AC. Haliyur R, et al. Among authors: sanyoura m. J Endocr Soc. 2021 Oct 29;5(12):bvab162. doi: 10.1210/jendso/bvab162. eCollection 2021 Dec 1. J Endocr Soc. 2021. PMID: 34870058 Free PMC article.
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.
Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P. Kishore S, et al. Among authors: sanyoura m. Cell Stem Cell. 2020 Jul 2;27(1):137-146.e6. doi: 10.1016/j.stem.2020.05.001. Epub 2020 May 21. Cell Stem Cell. 2020. PMID: 32442395 Free PMC article.
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: sanyoura m. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
21 results