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1

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

Roser Urreizti, Susana Balcells, Marga Rodés, Laura Vilarinho, Antonio Baldellou, María Luz Couce, Carmen Muñoz, Jaume Campistol, Xavier Pintó, María Antonia Vilaseca, Daniel Grinberg

Journal:

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

2

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

Eva Also-Rallo, Eva Lopez-Quesada, Roser Urreizti, M. Antònia Vilaseca, Josep M. Lailla, Susana Balcells, Daniel Grinberg

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2005

Language:

english

File:

PDF, 128 KB

english, 2005

3

MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

De-Ugarte, Laura, Yoskovitz, Guy, Balcells, Susana, Güerri-Fernández, Robert, Martinez-Diaz, Santos, Mellibovsky, Leonardo, Urreizti, Roser, Nogués, Xavier, Grinberg, Daniel, García-Giralt, Natalia, D

Journal:

BMC Medical Genomics

Year:

2016

Language:

english

File:

PDF, 964 KB

english, 2016

4

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, PÃ©rez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, MartÃnez-Delg

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.91 MB

2020

5

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

Mónica Cozar, Roser Urreizti, Laura Vilarinho, Carola Grosso, Raquel Dodelson de Kremer, Carla G. Asteggiano, Jaime Dalmau, Ana María García, María Antonia Vilaseca, Daniel Grinberg, Susana Balcells

Journal:

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

6

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

Roser Urreizti, Carla Asteggiano, Mónica Cozar, Nina Frank, María Antonia Vilaseca, Daniel Grinberg, Susana Balcells

Journal:

Year:

2006

Language:

english

File:

PDF, 273 KB

english, 2006

7

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

Marta Bermúdez, Nina Frank, Jaime Bernal, Roser Urreizti, Ignacio Briceño, Begoña Merinero, Celia Perez-Cerdá, Magdalena Ugarte, Daniel Grinberg, Susana Balcells, Jan P. Kraus

Journal:

Year:

2006

Language:

english

File:

PDF, 238 KB

english, 2006

8

Functional relevance of the BMD-associated polymorphism rs312009: Novel Involvement of RUNX2 in LRP5 transcriptional regulation

Lídia Agueda, Rafael Velázquez-Cruz, Roser Urreizti, Guy Yoskovitz, Patricia Sarrión, Susana Jurado, Roberto Güerri, Natàlia Garcia-Giralt, Xavier Nogués, Leonardo Mellibovsky, Adolfo Díez-Pérez, Pier

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 964 KB

english, 2011

9

Effect of IL-1β, PGE2, and TGF-β1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts

Susana Jurado, Natalia Garcia-Giralt, Adolfo Díez-Pérez, Pedro Esbrit, Guy Yoskovitz, Lídia Agueda, Roser Urreizti, Lluís Pérez-Edo, Guillem Saló, Leonardo Mellibovsky, Susana Balcells, Daniel Grinber

Journal:

Journal of Cellular Biochemistry

Year:

2010

Language:

english

File:

PDF, 183 KB

english, 2010

10

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

Roser Urreizti, Carla Asteggiano, Maria Antonia Vilaseca, Emili Corbella, Xavier Pintó, Daniel Grinberg, Susana Balcells

Journal:

Clinical Biochemistry

Year:

2007

Language:

english

File:

PDF, 147 KB

english, 2007

11

Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures

S. Jurado, X. Nogués, L. Agueda, N. Garcia-Giralt, R. Urreizti, G. Yoskovitz, L. Pérez-Edo, G. Saló, R. Carreras, L. Mellibovsky, S. Balcells, D. Grinberg, A. Díez-Pérez

Journal:

Osteoporosis International

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

12

Analysis of Three Functional Polymorphisms in Relation to Osteoporosis Phenotypes: Replication in a Spanish Cohort

Lídia Agueda, Roser Urreizti, Mariona Bustamante, Susana Jurado, Natàlia Garcia-Giralt, Adolfo Díez-Pérez, Xavier Nogués, Leonardo Mellibovsky, Daniel Grinberg, Susana Balcells

Journal:

Calcified Tissue International

Year:

2010

Language:

english

File:

PDF, 322 KB

english, 2010

13

The p.T191M mutation of theCBSgene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Roser Urreizti, Carla Asteggiano, Marta Bermudez, Alfonso Córdoba, Marina Szlago, Carola Grosso, Raquel Dodelson de Kremer, Laura Vilarinho, Vania D’Almeida, Mercedes Martínez-Pardo, Luís Peña-Quintan

Journal:

Journal of Human Genetics

Year:

2007

File:

PDF, 107 KB

2007

14

The p.T191M mutation of theCBSgene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Roser Urreizti, Carla Asteggiano, Marta Bermudez, Alfonso Córdoba, Mariana Szlago, Carola Grosso, Raquel Dodelson de Kremer, Laura Vilarinho, Vania D’Almeida, Mercedes Martínez-Pardo, Luís Peña-Quinta

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 240 KB

english, 2006

15

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

R Urreizti, AA Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, MA Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Rib

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 761 KB

english, 2010

16

COL1A1 haplotypes and hip fracture

Roser Urreizti, Natàlia Garcia-Giralt, José A. Riancho, Jesús González-Macías, Sergi Civit, Roberto Güerri, Guy Yoskovitz, Patricia Sarrion, Leonardo Mellivobsky, Adolfo Díez-Pérez, Xavier Nogués, Sus

Journal:

Journal of Bone and Mineral Research

Year:

2012

Language:

english

File:

PDF, 74 KB

english, 2012

17

Hyperhomocysteinemia in children with renal transplants

Ald&#x000E1, miz-Echevarr&#x000ED, a, Luis, Sanjurjo, Pablo, Vallo, Alfredo, Aquino, Lourdes, P&#x000E9, rez-Nanclares, Gustavo, Gimeno, Pilar, Rueda, Miguel, Ruiz, Jos&#x000E9, , Urreizti, Roser, Rodr&#x

Journal:

Pediatric Nephrology

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

18

Effect of IL-1B, PGE2 and TGF-B1 treatments on OPG and RANKL gene expression and protein synthesis in osteoporotic and normal HOB

S. Jurado⁎, N. Garcia-Giralt, A. Díez-Pérez, G. Yoskovitz, L. Águeda, R. Urreizti, P. Sarrión, L. Pérez-Edo, G. Saló, R. Carreras, L. Mellibovsky, S. Balcells, D. Grinberg, X. Nogues

Journal:

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

19

Effects of BMP2 treatment and CIZ/NMP overexpression on the transcription of several genes in osteoblasts

R. Urreizti, M. Bustamante, P. Sarrion, N. Cols, N. García-Giralt, G. Yoskovitz, R. Güerri, L. Mellibovsky, X. Nogués, A. Diez-Pérez, D. Grinberg, S. Balcells

Journal:

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

20

Mutations in the EXT1 and EXT2 genes in patients with multiple osteochondromas from Spain

P. Sarrion, A. Sangorrin, R. Urreizti, R. Artuch, L. Martorell, J. Armstrong, J. Anton, F. Torner, M.A. Vilaseca, S. Balcells, D. Grinberg

Journal:

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

21

Genotyping putative functional polymorphisms of rank in BARCOS cohort of postmenopausal women

G. Yoskovitz⁎, N. Garcia-Giralt, D. Prieto-Alhambra, R. Urreizti, P. Sarrion, E. Sole, R. Güerri, S. Balcells, D. Grinberg, L. Mellibovsky, A. Diez-Perez, X. Nogues

Journal:

Year:

2012

Language:

english

File:

PDF, 105 KB

english, 2012

22

High glucose activates the Wnt/β-catenin pathway and reduces matrix mineralization in human osteoblastic cells

N. Garcia-Giralt⁎, R. Urreizti, G. Yoskivitz, N. Cols, R. Güerri, P. Sarrion, S. Balcells, L. Mellibovsky, X. Nogues, D. Grinberg, P. Esbrit, A. Diez-Perez

Journal:

Year:

2012

Language:

english

File:

PDF, 191 KB

english, 2012

23

Identification of fused in sarcoma protein (FUS) as a factor binding to the PCOL1 site in the COL1A1 upstream regulatory region

M. Soler-Sala, N. Cols, G. Yoskovitz, R. Urreizti, P. Sarrión, N. García-Giralt, R. Güerri, L. Mellivobsky, X. Nogués, A. Díez-Pérez, D. Grinberg, S. Balcells⁎

Journal:

Year:

2012

Language:

english

File:

PDF, 78 KB

english, 2012

24

Analyses of RANK and RANKL in the Post-GWAS Context: Functional Evidence of Vitamin D Stimulation Through a RANKL Distal Region

Yoskovitz, Guy, Garcia-Giralt, Natalia, Rodriguez-Sanz, Maria, Urreizti, Roser, Guerri, Robert, Ariño-Ballester, Sergi, Prieto-Alhambra, Daniel, Mellibovsky, Leonardo, Grinberg, Daniel, Nogues, Xavier

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 2.19 MB

english, 2013

25

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes

Urreizti, Roser, Roca-Ayats, Neus, Trepat, Judith, Garcia-Garcia, Francisco, Aleman, Alejandro, Orteschi, Daniela, Marangi, Giuseppe, Neri, Giovanni, Opitz, John M., Dopazo, Joaquin, Cormand, Bru, Vil

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 500 KB

english, 2016

26

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Gri

Journal:

Scientific Reports

Year:

2013

Language:

english

File:

PDF, 579 KB

english, 2013

27

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 701 KB

english, 2017

28

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates

Roca-Ayats, Neus, Balcells, Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró, Maite, Martínez-Gil, Núria, Abril, Josep F., Urreizti, Roser, Dopazo, Joaquín, Quesada-Gómez, José M., Nogués, Xavier, Mellib

Journal:

New England Journal of Medicine

Year:

2017

Language:

english

File:

PDF, 214 KB

english, 2017

29

Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation

Munell, F., Sanchez-Montáñez, A., Quijano-Roy, S., Gratacos, M., Martinez-Saez, E., Ferrer Aparicio, S., Gomez Garcia de la Banda, M., Urreizti, R., Grinberg, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

30

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

Delgado, M. A., Martinez-Domenech, G., Sarrión, P., Urreizti, R., Zecchini, L., Robledo, H. H., Segura, F., de Kremer, R. Dodelson, Balcells, S., Grinberg, D., Asteggiano, C. G.

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 360 KB

english, 2015

31

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcell

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.27 MB

english, 2018

32

Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women

Sarrión, Patricia, Mellibovsky, Leonardo, Urreizti, Roser, Civit, Sergi, Cols, Neus, García-Giralt, Natàlia, Yoskovitz, Guy, Aranguren, Alvaro, Malouf, Jorge, Di Gregorio, Silvana, Río, Luís Del, Güer

Journal:

Year:

2014

Language:

english

File:

PDF, 869 KB

english, 2014

33

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

Urreizti, Roser, Gürsoy, Semra, Castilla-Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 360 KB

english, 2018

34

SNPs en el 3'UTR de gen RANK determinan la fractura osteoporótica sitio-dependiente

García-Giralt, N., Yoskovitz, G., Rodríguez-Sanz, M., Urreizti, R., Guerri, R., Prieto-Alhambra, D., Mellibovsky, L., Grinberg, D., Balcells, S., Nogués, X., Díez-Pérez, A.

Journal:

Revista de Osteoporosis y Metabolismo Mineral

Year:

2013

Language:

english

File:

PDF, 135 KB

english, 2013

35

C syndrome - what do we know and what could the future hold?

Urreizti, Roser, Grinberg, Daniel, Balcells, Susanna

Journal:

Expert Opinion on Orphan Drugs

Year:

2019

Language:

english

File:

PDF, 858 KB

english, 2019

36

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balce

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 259 KB

english, 2019

37

Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

Castilla-Vallmanya,, Urreizti,, Franco,, Amiel,, Tan,, Neumann,, Gordon,, Grinberg,

Journal:

Proceedings (American Bar Association. Section of International and Comparative Law)

Year:

2019

File:

PDF, 138 KB

2019

38

Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies

Leon, Eyby, Diaz, Jullianne, Castilla‐Vallmanya, Laura, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 751 KB

2019

39

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

Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser

Journal:

Year:

2019

File:

PDF, 446 KB

2019

40

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

GarcÃa-Cazorla, Ãngels, Verdura, Edgard, JuliÃ¡-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., SchlÃ¼ter, Agatha, Urreizti, R

Journal:

Acta Neuropathologica

Year:

2020

File:

PDF, 851 KB

2020