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Page 1
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: urreizti r. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JMW, Buchkovich ML, Heard-Costa NL, Roman TS, Drong AW, Song C, Gustafsson S, Day FR, Esko T, Fall T, Kutalik Z, Luan J, Randall JC, Scherag A, Vedantam S, Wood AR, Chen J, Fehrmann R, Karjalainen J, Kahali B, Liu CT, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bragg-Gresham JL, Buyske S, Demirkan A, Ehret GB, Feitosa MF, Goel A, Jackson AU, Johnson T, Kleber ME, Kristiansson K, Mangino M, Leach IM, Medina-Gomez C, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Stančáková A, Sung YJ, Tanaka T, Teumer A, Van Vliet-Ostaptchouk JV, Yengo L, Zhang W, Albrecht E, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Böhringer S, Bonnet F, Böttcher Y, Bruinenberg M, Carba DB, Caspersen IH, Clarke R, Daw EW, Deelen J, Deelman E, Delgado G, Doney AS, Eklund N, Erdos MR, Estrada K, Eury E, Friedrich N, Garcia ME, Giedraitis V, Gigante B, Go AS, Golay A, Grallert H, Grammer TB, Gräßler J, Grewal J, Groves CJ, Haller T, Hallmans G, Hartman CA, Hassinen M, Hayward C, Heikkilä K, Herzig KH, Helmer Q, Hi… See abstract for full author list ➔ Shungin D, et al. Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132. Nature. 2015. PMID: 25673412 Free PMC article.
Assessment of gene-by-sex interaction effect on bone mineral density.
Liu CT, Estrada K, Yerges-Armstrong LM, Amin N, Evangelou E, Li G, Minster RL, Carless MA, Kammerer CM, Oei L, Zhou Y, Alonso N, Dailiana Z, Eriksson J, García-Giralt N, Giroux S, Husted LB, Khusainova RI, Koromila T, Kung AW, Lewis JR, Masi L, Mencej-Bedrac S, Nogues X, Patel MS, Prezelj J, Richards JB, Sham PC, Spector T, Vandenput L, Xiao SM, Zheng HF, Zhu K, Balcells S, Brandi ML, Frost M, Goltzman D, González-Macías J, Karlsson M, Khusnutdinova EK, Kollia P, Langdahl BL, Ljunggren O, Lorentzon M, Marc J, Mellström D, Ohlsson C, Olmos JM, Ralston SH, Riancho JA, Rousseau F, Urreizti R, Van Hul W, Zarrabeitia MT, Castano-Betancourt M, Demissie S, Grundberg E, Herrera L, Kwan T, Medina-Gómez C, Pastinen T, Sigurdsson G, Thorleifsson G, Vanmeurs JB, Blangero J, Hofman A, Liu Y, Mitchell BD, O'Connell JR, Oostra BA, Rotter JI, Stefansson K, Streeten EA, Styrkarsdottir U, Thorsteinsdottir U, Tylavsky FA, Uitterlinden A, Cauley JA, Harris TB, Ioannidis JP, Psaty BM, Robbins JA, Zillikens MC, Vanduijn CM, Prince RL, Karasik D, Rivadeneira F, Kiel DP, Cupples LA, Hsu YH. Liu CT, et al. Among authors: urreizti r. J Bone Miner Res. 2012 Oct;27(10):2051-64. doi: 10.1002/jbmr.1679. J Bone Miner Res. 2012. PMID: 22692763 Free PMC article.
Hyperhomocysteinemia in children with renal transplants.
Aldámiz-Echevarría L, Sanjurjo P, Vallo A, Aquino L, Pérez-Nanclares G, Gimeno P, Rueda M, Ruiz I, Urreizti R, Rodríguez-Soriano J. Aldámiz-Echevarría L, et al. Among authors: urreizti r. Pediatr Nephrol. 2002 Sep;17(9):718-23. doi: 10.1007/s00467-002-0894-2. Epub 2002 Jun 11. Pediatr Nephrol. 2002. PMID: 12215824
Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures.
Jurado S, Nogués X, Agueda L, Garcia-Giralt N, Urreizti R, Yoskovitz G, Pérez-Edo L, Saló G, Carreras R, Mellibovsky L, Balcells S, Grinberg D, Díez-Pérez A. Jurado S, et al. Among authors: urreizti r. Osteoporos Int. 2010 Feb;21(2):287-96. doi: 10.1007/s00198-009-0956-4. Epub 2009 May 13. Osteoporos Int. 2010. PMID: 19436932
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. Delgado MA, et al. Among authors: urreizti r. Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407. Sci Rep. 2014. PMID: 25230886 Free PMC article.
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4. J Hum Genet. 2007. PMID: 32033511
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Urreizti R, et al. Clin Genet. 2010 Nov;78(5):441-8. doi: 10.1111/j.1399-0004.2010.01391.x. Clin Genet. 2010. PMID: 20236116
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