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Page 1
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Eldomery MK, et al. Among authors: kury s. Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6. Genome Med. 2017. PMID: 28327206 Free PMC article.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Among authors: kury s. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.
Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption.
Küry S, Buecher B, Robiou-du-Pont S, Scoul C, Sébille V, Colman H, Le Houérou C, Le Neel T, Bourdon J, Faroux R, Ollivry J, Lafraise B, Chupin LD, Bézieau S. Küry S, et al. Cancer Epidemiol Biomarkers Prev. 2007 Jul;16(7):1460-7. doi: 10.1158/1055-9965.EPI-07-0236. Cancer Epidemiol Biomarkers Prev. 2007. PMID: 17627011
[Acrodermatitis enteropathica in full-term breast-fed infant].
Kharfi M, Zaraa I, Kury S, Moisan JP, Kamoun MR. Kharfi M, et al. Among authors: kury s. Ann Dermatol Venereol. 2005 Mar;132(3):246-8. doi: 10.1016/s0151-9638(05)79254-1. Ann Dermatol Venereol. 2005. PMID: 15924047 French.
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, Ferretti V, Laflamme P, Sundararajan S, Roumy S, Olivier JF, Robidoux F, Sladek R, Montpetit A, Campbell P, Bezieau S, O'Shea AM, Zogopoulos G, Cotterchio M, Newcomb P, McLaughlin J, Younghusband B, Green R, Green J, Porteous ME, Campbell H, Blanche H, Sahbatou M, Tubacher E, Bonaiti-Pellié C, Buecher B, Riboli E, Kury S, Chanock SJ, Potter J, Thomas G, Gallinger S, Hudson TJ, Dunlop MG. Zanke BW, et al. Among authors: kury s. Nat Genet. 2007 Aug;39(8):989-94. doi: 10.1038/ng2089. Epub 2007 Jul 8. Nat Genet. 2007. PMID: 17618283
Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer.
Gong J, Hutter CM, Newcomb PA, Ulrich CM, Bien SA, Campbell PT, Baron JA, Berndt SI, Bezieau S, Brenner H, Casey G, Chan AT, Chang-Claude J, Du M, Duggan D, Figueiredo JC, Gallinger S, Giovannucci EL, Haile RW, Harrison TA, Hayes RB, Hoffmeister M, Hopper JL, Hudson TJ, Jeon J, Jenkins MA, Kocarnik J, Küry S, Le Marchand L, Lin Y, Lindor NM, Nishihara R, Ogino S, Potter JD, Rudolph A, Schoen RE, Schrotz-King P, Seminara D, Slattery ML, Thibodeau SN, Thornquist M, Toth R, Wallace R, White E, Jiao S, Lemire M, Hsu L, Peters U; CCFR and GECCO. Gong J, et al. Among authors: kury s. PLoS Genet. 2016 Oct 10;12(10):e1006296. doi: 10.1371/journal.pgen.1006296. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27723779 Free PMC article.
140 results