Roser Urreizti

Roser Urreizti

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Roser Urreizti

Roser Urreizti

Publications by authors named "Roser Urreizti"

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27Publications

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

Am J Med Genet A 2020 Jan 6;182(1):201-204. Epub 2019 Nov 6.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61397DOI Listing
January 2020

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

Eur J Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0394-5DOI Listing
April 2019

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

Eur J Hum Genet 2019 Mar 15. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0374-9DOI Listing
March 2019

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

Medicine (Baltimore) 2019 Feb;98(8):e14524

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, Institut de Recerca Sant Joan de Déu (IRSJD), CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1097/MD.0000000000014524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407924PMC
February 2019

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

Clin Case Rep 2018 Aug 10;6(8):1452-1456. Epub 2018 Jun 10.

Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.

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http://dx.doi.org/10.1002/ccr3.1603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099046PMC
August 2018

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

Sci Rep 2018 01 12;8(1):694. Epub 2018 Jan 12.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41598-017-19109-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5766530PMC
January 2018

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

BMC Med Genomics 2017 05 23;10(1):36. Epub 2017 May 23.

Musculoskeletal research group, IMIM (Hospital del Mar Medical Research Institute), Red Temática de Investigación Cooperativa en Envejecimiento y Fragilidad (RETICEF), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12920-017-0272-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5442687PMC
May 2017

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

Am J Med Genet A 2016 Jan 7;170A(1):24-31. Epub 2015 Oct 7.

Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37418DOI Listing
January 2016

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

BMC Med Genomics 2015 Nov 10;8:75. Epub 2015 Nov 10.

Musculoskeletal research group, IMIM (Hospital del Mar Medical Research Institute), Red Temática de Investigación Cooperativa en Envejecimiento y Fragilidad (RETICEF), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12920-015-0149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640351PMC
November 2015

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

PLoS One 2014 15;9(4):e94607. Epub 2014 Apr 15.

Departament de Genètica, Universitat de Barcelona, IBUB, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Institut de Biomedicina Universitat de Barcelona (IBUB), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094607PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988071PMC
January 2015

Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region.

J Bone Miner Res 2013 Dec;28(12):2550-60

URFOA, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Red Temática de Investigación Cooperativa en Envejecimiento y Fragilidad (RETICEF), Barcelona, Spain.

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http://dx.doi.org/10.1002/jbmr.2001DOI Listing
December 2013

Assessment of gene-by-sex interaction effect on bone mineral density.

J Bone Miner Res 2012 Oct;27(10):2051-64

Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue CT3, Boston,MA 02118, USA.

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http://dx.doi.org/10.1002/jbmr.1679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447125PMC
October 2012

COL1A1 haplotypes and hip fracture.

J Bone Miner Res 2012 Apr;27(4):950-3

Departament de Genètica, Universitat de Barcelona, IBUB, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1002/jbmr.1536DOI Listing
April 2012

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Authors:
Karol Estrada Unnur Styrkarsdottir Evangelos Evangelou Yi-Hsiang Hsu Emma L Duncan Evangelia E Ntzani Ling Oei Omar M E Albagha Najaf Amin John P Kemp Daniel L Koller Guo Li Ching-Ti Liu Ryan L Minster Alireza Moayyeri Liesbeth Vandenput Dana Willner Su-Mei Xiao Laura M Yerges-Armstrong Hou-Feng Zheng Nerea Alonso Joel Eriksson Candace M Kammerer Stephen K Kaptoge Paul J Leo Gudmar Thorleifsson Scott G Wilson James F Wilson Ville Aalto Markku Alen Aaron K Aragaki Thor Aspelund Jacqueline R Center Zoe Dailiana David J Duggan Melissa Garcia Natàlia Garcia-Giralt Sylvie Giroux Göran Hallmans Lynne J Hocking Lise Bjerre Husted Karen A Jameson Rita Khusainova Ghi Su Kim Charles Kooperberg Theodora Koromila Marcin Kruk Marika Laaksonen Andrea Z Lacroix Seung Hun Lee Ping C Leung Joshua R Lewis Laura Masi Simona Mencej-Bedrac Tuan V Nguyen Xavier Nogues Millan S Patel Janez Prezelj Lynda M Rose Serena Scollen Kristin Siggeirsdottir Albert V Smith Olle Svensson Stella Trompet Olivia Trummer Natasja M van Schoor Jean Woo Kun Zhu Susana Balcells Maria Luisa Brandi Brendan M Buckley Sulin Cheng Claus Christiansen Cyrus Cooper George Dedoussis Ian Ford Morten Frost David Goltzman Jesús González-Macías Mika Kähönen Magnus Karlsson Elza Khusnutdinova Jung-Min Koh Panagoula Kollia Bente Lomholt Langdahl William D Leslie Paul Lips Östen Ljunggren Roman S Lorenc Janja Marc Dan Mellström Barbara Obermayer-Pietsch José M Olmos Ulrika Pettersson-Kymmer David M Reid José A Riancho Paul M Ridker François Rousseau P Eline Slagboom Nelson L S Tang Roser Urreizti Wim Van Hul Jorma Viikari María T Zarrabeitia Yurii S Aulchenko Martha Castano-Betancourt Elin Grundberg Lizbeth Herrera Thorvaldur Ingvarsson Hrefna Johannsdottir Tony Kwan Rui Li Robert Luben Carolina Medina-Gómez Stefan Th Palsson Sjur Reppe Jerome I Rotter Gunnar Sigurdsson Joyce B J van Meurs Dominique Verlaan Frances M K Williams Andrew R Wood Yanhua Zhou Kaare M Gautvik Tomi Pastinen Soumya Raychaudhuri Jane A Cauley Daniel I Chasman Graeme R Clark Steven R Cummings Patrick Danoy Elaine M Dennison Richard Eastell John A Eisman Vilmundur Gudnason Albert Hofman Rebecca D Jackson Graeme Jones J Wouter Jukema Kay-Tee Khaw Terho Lehtimäki Yongmei Liu Mattias Lorentzon Eugene McCloskey Braxton D Mitchell Kannabiran Nandakumar Geoffrey C Nicholson Ben A Oostra Munro Peacock Huibert A P Pols Richard L Prince Olli Raitakari Ian R Reid John Robbins Philip N Sambrook Pak Chung Sham Alan R Shuldiner Frances A Tylavsky Cornelia M van Duijn Nick J Wareham L Adrienne Cupples Michael J Econs David M Evans Tamara B Harris Annie Wai Chee Kung Bruce M Psaty Jonathan Reeve Timothy D Spector Elizabeth A Streeten M Carola Zillikens Unnur Thorsteinsdottir Claes Ohlsson David Karasik J Brent Richards Matthew A Brown Kari Stefansson André G Uitterlinden Stuart H Ralston John P A Ioannidis Douglas P Kiel Fernando Rivadeneira

Nat Genet 2012 Apr 15;44(5):491-501. Epub 2012 Apr 15.

Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://kooperberg.fhcrc.org/papers/2012estrada.pdf
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http://www.nature.com/doifinder/10.1038/ng.2249
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http://dx.doi.org/10.1038/ng.2249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338864PMC
April 2012

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

Hum Mutat 2011 Jul 7;32(7):835-42. Epub 2011 Jun 7.

Departament de Genètica, Universitat de Barcelona, IBUB, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.21514DOI Listing
July 2011

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

Clin Biochem 2007 Aug 27;40(12):864-8. Epub 2007 Apr 27.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, Av Diagonal, 645, E-08028, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.04.008DOI Listing
August 2007

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

Hum Mutat 2006 Feb;27(2):211

Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.9395DOI Listing
February 2006

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

Eur J Obstet Gynecol Reprod Biol 2005 May;120(1):45-52

Department of Genetics of the University of Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejogrb.2004.08.008DOI Listing
May 2005

Hyperhomocysteinemia in children with renal transplants.

Pediatr Nephrol 2002 Sep 11;17(9):718-23. Epub 2002 Jun 11.

Division of Metabolism, Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain.

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http://dx.doi.org/10.1007/s00467-002-0894-2DOI Listing
September 2002