Publications by authors named "Susana Balcells"

48Publications

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

Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.

PLoS One 2018 28;13(11):e0208131. Epub 2018 Nov 28.

Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Catalonia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208131PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261634PMC
May 2019

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

J Bone Miner Res 2018 12 24;33(12):2091-2098. Epub 2018 Sep 24.

Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1002/jbmr.3580DOI Listing
December 2018

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

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

Sci Rep 2018 Jul 19;8(1):10951. Epub 2018 Jul 19.

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/s41598-018-29242-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053384PMC
July 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

Expression profiling of microRNAs in human bone tissue from postmenopausal women.

Hum Cell 2018 Jan 20;31(1):33-41. Epub 2017 Sep 20.

Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, C/Dr. Aiguader 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s13577-017-0181-yDOI Listing
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

Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study.

Breast Cancer Res Treat 2013 Jul 19;140(2):385-95. Epub 2013 Jul 19.

URFOA-IMIM Department, Red Temática de Investigación Cooperativa en Envejecimiento y Fragilidad (RETICEF), Instituto de Salud Carlos III FEDER, Parc de Salut Mar, C/Dr Aiguader, 88, 2nd Floor, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-013-2638-3DOI Listing
July 2013

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

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

J Bone Joint Surg Am 2012 Jun;94(11):e76

Centro de Estudio de las Metabolopatías Congénitas, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.

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http://dx.doi.org/10.2106/JBJS.J.01920DOI Listing
June 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

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

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

Bone mass of a 113-year-old man.

J Gerontol A Biol Sci Med Sci 2007 Jul;62(7):794-5

Hospital del Mar, Unidad de Recerca en Fisiopatología Osea i Articular, Institut d'Investigació Medica, Universidad Autónoma de Barcelona, 08003, Spain.

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http://dx.doi.org/10.1093/gerona/62.7.794DOI Listing
July 2007

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

Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.

J Clin Endocrinol Metab 2006 Sep 27;91(9):3575-83. Epub 2006 Jun 27.

Rheumatic Diseases Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.

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http://dx.doi.org/10.1210/jc.2005-2651DOI Listing
September 2006

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

A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women.

Bone 2006 May 15;38(5):738-43. Epub 2005 Dec 15.

URFOA-IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, C/Passeig Maritim 25, E-08003 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.bone.2005.10.010DOI Listing
May 2006

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations.

Int J Med Sci 2005 1;2(2):58-63. Epub 2005 Apr 1.

1. Unitat de Lípids i Arteriosclerosi, Servei de Medicina Interna, Hospital Universitari de Bellvitge, IDIBELL, c/Feixa Llarga s/n, 08907 Hospitalet de Llobregat, Barcelona, Spain.

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http://www.medsci.org/v02p0058.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1145135PMC
http://dx.doi.org/10.7150/ijms.2.58DOI Listing
April 2005

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

In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs.

Bone 2005 May 7;36(5):902-8. Epub 2005 Apr 7.

Department of Genetics, Universitat de Barcelona, Av. Diagonal 645, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.bone.2004.12.012DOI Listing
May 2005

Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments.

Eur J Endocrinol 2003 May;148(5):519-26

URFOA-IMIM, Hospital del Mar, Universitat Autonoma de Barcelona, C/Doctor Aiguader 80, E-08003 Barcelona, Spain.

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http://dx.doi.org/10.1530/eje.0.1480519DOI Listing
May 2003

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Hum Mutat 2002 Dec;20(6):476

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

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http://dx.doi.org/10.1002/humu.9086DOI Listing
December 2002

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins.

Genome Biol 2002 14;3(6):RESEARCH0027. Epub 2002 May 14.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC116724PMC
http://dx.doi.org/10.1186/gb-2002-3-6-research0027DOI Listing
August 2002