Urreizti R - Search Results

1

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

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. Castilla-Vallmanya L, et al. Among authors: urreizti r. Int J Mol Sci. 2021 Feb 4;22(4):1549. doi: 10.3390/ijms22041549. Int J Mol Sci. 2021. PMID: 33557041 Free PMC article.

2

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Urreizti R, et al. Hum Mutat. 2003 Jul;22(1):103. doi: 10.1002/humu.9153. Hum Mutat. 2003. PMID: 12815602

3

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.

Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Vilaseca MA, et al. Among authors: urreizti r. J Inherit Metab Dis. 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. J Inherit Metab Dis. 2004. PMID: 15617186

4

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.

Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Also-Rallo E, et al. Among authors: urreizti r. Eur J Obstet Gynecol Reprod Biol. 2005 May 1;120(1):45-52. doi: 10.1016/j.ejogrb.2004.08.008. Eur J Obstet Gynecol Reprod Biol. 2005. PMID: 15866085

5

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Urreizti R, et al. Hum Mutat. 2006 Feb;27(2):211. doi: 10.1002/humu.9395. Hum Mutat. 2006. PMID: 16429402

6

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pintó X, Grinberg D, Balcells S. Urreizti R, et al. Clin Biochem. 2007 Aug;40(12):864-8. doi: 10.1016/j.clinbiochem.2007.04.008. Epub 2007 Apr 27. Clin Biochem. 2007. PMID: 17553479

7

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

8

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

9

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

Agueda L, Urreizti R, Bustamante M, Jurado S, Garcia-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Agueda L, et al. Among authors: urreizti r. Calcif Tissue Int. 2010 Jul;87(1):14-24. doi: 10.1007/s00223-010-9361-4. Calcif Tissue Int. 2010. PMID: 20390408

10

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Cozar M, et al. Among authors: urreizti r. Hum Mutat. 2011 Jul;32(7):835-42. doi: 10.1002/humu.21514. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520339 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

54 results

Search Page