Roser Urreizti - Publications

Affiliations: 
Dept. of Genetics, Microbiology and Statistics Universitat de Barcelona, Barcelona, Cataluña, Spain 

34 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R. and Mutations in a Highly Consanguineous Family. International Journal of Molecular Sciences. 22. PMID 33557041 DOI: 10.3390/ijms22041549  0.68
2020 Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, ... ... Urreizti R, et al. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Journal of Inherited Metabolic Disease. PMID 32677093 DOI: 10.1002/jimd.12288  0.32
2020 Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... ... Urreizti R, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/S41436-020-0792-7  0.68
2020 Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, et al. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet Journal of Rare Diseases. 15: 44. PMID 32041641 DOI: 10.1186/s13023-020-1317-9  0.68
2019 Leon E, Diaz J, Castilla-Vallmanya L, Grinberg D, Balcells S, Urreizti R. Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. American Journal of Medical Genetics. Part A. PMID 31692235 DOI: 10.1002/ajmg.a.61397  0.68
2019 Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 31477843 DOI: 10.1038/s41431-019-0394-5  0.68
2019 Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 30877278 DOI: 10.1038/S41431-019-0374-9  0.68
2019 Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524. PMID 30813157 DOI: 10.1097/MD.0000000000014524  0.68
2018 Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S. The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical Case Reports. 6: 1452-1456. PMID 30147881 DOI: 10.1002/ccr3.1603  0.68
2018 Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694. PMID 29330474 DOI: 10.1038/S41598-017-19109-9  0.68
2017 De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 10: 36. PMID 28535813 DOI: 10.1186/s12920-017-0272-3  0.68
2017 Roca-Ayats N, Balcells S, Garcia-Giralt N, Falcó-Mascaró M, Martínez-Gil N, Abril JF, Urreizti R, Dopazo J, Quesada-Gómez JM, Nogués X, Mellibovsky L, Prieto-Alhambra D, Dunford JE, Javaid MK, Russell RG, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal of Medicine. 376: 1794-1795. PMID 28467865 DOI: 10.1056/NEJMc1612804  0.68
2017 Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138. PMID 28281571 DOI: 10.1038/Srep44138  0.68
2016 Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics. Part A. 170: 24-31. PMID 26768331 DOI: 10.1002/Ajmg.A.37418  0.56
2015 De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 8: 75. PMID 26555194 DOI: 10.1186/s12920-015-0149-2  0.68
2014 Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. Scientific Reports. 4: 6407. PMID 25230886 DOI: 10.1038/srep06407  0.68
2014 Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg D, et al. Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women. Plos One. 9: e94607. PMID 24736728 DOI: 10.1371/journal.pone.0094607  0.68
2013 Yoskovitz G, Garcia-Giralt N, Rodriguez-Sanz M, Urreizti R, Guerri R, Ariño-Ballester S, Prieto-Alhambra D, Mellibovsky L, Grinberg D, Nogues X, Balcells S, Diez-Perez A. Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2550-60. PMID 23744843 DOI: 10.1002/jbmr.2001  0.68
2012 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, ... ... Urreizti R, et al. Assessment of gene-by-sex interaction effect on bone mineral density. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 2051-64. PMID 22692763 DOI: 10.1002/Jbmr.1679  0.56
2012 Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S, Grinberg D. COL1A1 haplotypes and hip fracture. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 950-3. PMID 22190259 DOI: 10.1002/jbmr.1536  0.68
2011 Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S, Grinberg D. Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 26: 1133-44. PMID 21542013 DOI: 10.1002/jbmr.293  0.56
2011 Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Human Mutation. 32: 835-42. PMID 21520339 DOI: 10.1002/humu.21514  0.68
2010 Agueda L, Urreizti R, Bustamante M, Jurado S, Garcia-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcified Tissue International. 87: 14-24. PMID 20390408 DOI: 10.1007/s00223-010-9361-4  0.56
2010 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, et al. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical Genetics. 78: 441-8. PMID 20236116 DOI: 10.1111/j.1399-0004.2010.01391.x  0.68
2010 Jurado S, Garcia-Giralt N, Díez-Pérez A, Esbrit P, Yoskovitz G, Agueda L, Urreizti R, Pérez-Edo L, Saló G, Mellibovsky L, Balcells S, Grinberg D, Nogués X. Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts. Journal of Cellular Biochemistry. 110: 304-10. PMID 20225238 DOI: 10.1002/jcb.22538  0.56
2010 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. Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 21: 287-96. PMID 19436932 DOI: 10.1007/s00198-009-0956-4  0.56
2007 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, et al. Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 52: 388-389. PMID 32033511 DOI: 10.1007/s10038-006-0103-4  0.68
2007 Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pintó X, Grinberg D, Balcells S. A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. Clinical Biochemistry. 40: 864-8. PMID 17553479 DOI: 10.1016/j.clinbiochem.2007.04.008  0.68
2006 Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, et al. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 51: 305-13. PMID 16479318 DOI: 10.1007/s10038-006-0362-0  0.68
2006 Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Human Mutation. 27: 296. PMID 16470595 DOI: 10.1002/humu.9416  0.68
2006 Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. Human Mutation. 27: 211. PMID 16429402 DOI: 10.1002/humu.9395  0.68
2005 Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. European Journal of Obstetrics, Gynecology, and Reproductive Biology. 120: 45-52. PMID 15866085 DOI: 10.1016/j.ejogrb.2004.08.008  0.68
2005 Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. Journal of Inherited Metabolic Disease. 27: 775-7. PMID 15617186 DOI: 10.1023/B:BOLI.0000045840.18383.25  0.6
2003 Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Human Mutation. 22: 103. PMID 12815602 DOI: 10.1002/humu.9153  0.68
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