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Page 1
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ. Teresa-Rodrigo ME, et al. Among authors: bernal ml. Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925417 Free PMC article.
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ. Pié J, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Am J Med Genet C Semin Med Genet. 2016. PMID: 27164022 Review.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia; Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group; Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2; Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group; Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan … See abstract for full author list ➔ Cheng CY, et al. Am J Hum Genet. 2013 Aug 8;93(2):264-77. doi: 10.1016/j.ajhg.2013.06.016. Am J Hum Genet. 2013. PMID: 24144296 Free PMC article.
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V; Finnish Diabetic Nephropathy Study (FinnDiane); Perna A, Rurali E, Marcovecchio ML, Igo RP Jr, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN; Hong Kong Diabetes Registry Theme-based Research Scheme Project Group; Ang SF, Dorajoo R, Wang L, Clara TSH, McKnight AJ, Duffy S; Warren 3 and Genetics of Kidneys in Diabetes (GoKinD) Study Group; Pezzolesi MG; GENIE (GEnetics of Nephropathy an International Effort) Consortium; Marre M, Gyorgy B, Hadjadj S, Hiraki LT; Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Research Group; Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzz… See abstract for full author list ➔ van Zuydam NR, et al. Diabetes. 2018 Jul;67(7):1414-1427. doi: 10.2337/db17-0914. Epub 2018 Apr 27. Diabetes. 2018. PMID: 29703844 Free PMC article.
The long-term effects of type 1 diabetes treatment and complications on health-related quality of life: a 23-year follow-up of the Diabetes Control and Complications/Epidemiology of Diabetes Interventions and Complications cohort.
Jacobson AM, Braffett BH, Cleary PA, Gubitosi-Klug RA, Larkin ME; DCCT/EDIC Research Group. Jacobson AM, et al. Diabetes Care. 2013 Oct;36(10):3131-8. doi: 10.2337/dc12-2109. Epub 2013 Jul 8. Diabetes Care. 2013. PMID: 23835693 Free PMC article. Clinical Trial.
Intensive diabetes therapy and glomerular filtration rate in type 1 diabetes.
DCCT/EDIC Research Group; de Boer IH, Sun W, Cleary PA, Lachin JM, Molitch ME, Steffes MW, Zinman B. DCCT/EDIC Research Group, et al. N Engl J Med. 2011 Dec 22;365(25):2366-76. doi: 10.1056/NEJMoa1111732. Epub 2011 Nov 12. N Engl J Med. 2011. PMID: 22077236 Free PMC article. Clinical Trial.
Long-term renal outcomes of patients with type 1 diabetes mellitus and microalbuminuria: an analysis of the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications cohort.
de Boer IH, Rue TC, Cleary PA, Lachin JM, Molitch ME, Steffes MW, Sun W, Zinman B, Brunzell JD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study Research Group; White NH, Danis RP, Davis MD, Hainsworth D, Hubbard LD, Nathan DM. de Boer IH, et al. Arch Intern Med. 2011 Mar 14;171(5):412-20. doi: 10.1001/archinternmed.2011.16. Arch Intern Med. 2011. PMID: 21403038 Free PMC article. Clinical Trial.
Modern-day clinical course of type 1 diabetes mellitus after 30 years' duration: the diabetes control and complications trial/epidemiology of diabetes interventions and complications and Pittsburgh epidemiology of diabetes complications experience (1983-2005).
Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group; Nathan DM, Zinman B, Cleary PA, Backlund JY, Genuth S, Miller R, Orchard TJ. Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, et al. Arch Intern Med. 2009 Jul 27;169(14):1307-16. doi: 10.1001/archinternmed.2009.193. Arch Intern Med. 2009. PMID: 19636033 Free PMC article.
60 results