Urreizti R - Search Results

1

Case report of a child bearing a novel deleterious splicing variant in PIGT.

Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Mason S, et al. Among authors: urreizti r. Medicine (Baltimore). 2019 Feb;98(8):e14524. doi: 10.1097/MD.0000000000014524. Medicine (Baltimore). 2019. PMID: 30813157 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

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. Bermúdez M, et al. Among authors: urreizti r. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9416. Hum Mutat. 2006. PMID: 16470595

7

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. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318

8

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

9

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

10

Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.

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. Jurado S, et al. Among authors: urreizti r. J Cell Biochem. 2010 May 15;110(2):304-10. doi: 10.1002/jcb.22538. J Cell Biochem. 2010. PMID: 20225238

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

55 results

Search Page

Filters