Daniel Grinberg

Daniel Grinberg

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Daniel Grinberg

Publications by authors named "Daniel Grinberg"

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Cardiopulmonary Bypass Priming with Hydroxyethyl Starch 6% 130/0.4 or Sodium Chloride 0.9%: A Preliminary Double-Blind Randomized Controlled Study in Cardiac Surgery.

J Cardiothorac Vasc Anesth 2019 Dec 10;33(12):3534-3535. Epub 2019 May 10.

Service d'Anesthésie-Réanimation, Hôpital Louis Pradel, Hospices Civils de Lyon, Lyon, France; IHU OPERA Cardioprotection, Université Claude Bernard Lyon 1, Lyon, France.

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http://dx.doi.org/10.1053/j.jvca.2019.05.003DOI Listing
December 2019

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

Am J Med Genet A 2019 Nov 6. 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
November 2019

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Clin Genet 2019 Oct 1. Epub 2019 Oct 1.

Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1111/cge.13649DOI Listing
October 2019

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

Stem Cell Res 2019 Oct 24;41:101616. Epub 2019 Oct 24.

Stem Cells, Aging and Neurodegeneration Group, Lund Stem Cell Center, University Hospital, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101616DOI Listing
October 2019

Measuring chordae tension during transapical neochordae implantation: Toward understanding objective consequences of mitral valve repair.

J Thorac Cardiovasc Surg 2019 Sep 17;158(3):746-755. Epub 2018 Oct 17.

Department of Adult Cardiac Surgery, Hôpital cardiologique Louis Pradel, Lyon Medical School, Bron, France.

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http://dx.doi.org/10.1016/j.jtcvs.2018.10.029DOI Listing
September 2019

Mitral valve repair based on physical characterization of coaptation forces.

J Thorac Cardiovasc Surg 2019 Aug 28. Epub 2019 Aug 28.

Department of Neurosurgery, Mount Sinai Hospital, New York, NY.

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http://dx.doi.org/10.1016/j.jtcvs.2019.07.097DOI Listing
August 2019

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

Bone 2019 Jun 14;123:39-47. Epub 2019 Mar 14.

Department of Genetics, Microbiology and Statistics, Facultat de Biologia, Universitat de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, IBUB, IRSJD, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.03.014DOI Listing
June 2019

Minithoracotomy and Beating Heart Strategy for Mitral Surgery in Secondary Mitral Regurgitation.

Thorac Cardiovasc Surg 2019 Jun 26. Epub 2019 Jun 26.

Department of Adult Cardiac Surgery, Hôpital Cardiologique Louis Pradel, Lyon Medical School, Lyon, France.

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http://dx.doi.org/10.1055/s-0039-1692403DOI Listing
June 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

Percutaneous Repair for Secondary Mitral Regurgitation. Reply.

N Engl J Med 2019 05;380(20):1977-1978

Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1056/NEJMc1903624DOI Listing
May 2019

Bone development and remodeling in metabolic disorders.

J Inherit Metab Dis 2019 Apr 3. Epub 2019 Apr 3.

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

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http://dx.doi.org/10.1002/jimd.12097DOI Listing
April 2019

What do MITRA-FR and COAPT teach us about the percutaneous treatment of secondary mitral regurgitation?

EuroIntervention 2019 Apr;14(17):1713-1715

Department of Cardiovascular Surgery, The Mount Sinai Hospital, New York, NY, USA.

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http://dx.doi.org/10.4244/EIJV14I17A295DOI Listing
April 2019

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

Artificial mitral chordae: When length matters.

J Thorac Cardiovasc Surg 2019 Feb 29;157(2):e23-e25. Epub 2018 Sep 29.

Department of Cardiovascular Surgery, Hôpital Cardiologique Louis Pradel, Lyon, France.

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http://dx.doi.org/10.1016/j.jtcvs.2018.09.015DOI Listing
February 2019

Outcomes after extracorporeal life support for postcardiotomy cardiogenic shock.

J Card Surg 2019 Feb 12;34(2):74-81. Epub 2019 Jan 12.

Department of Cardiac Surgery, "Louis Pradel" Cardiologic Hospital, "Claude Bernard" University, Lyon, France.

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http://dx.doi.org/10.1111/jocs.13985DOI Listing
February 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

Quality Assessment of Reporting of Economic Evaluation in Cardiac Sugery: Has it Improved?

Int J Technol Assess Health Care 2019 Jan 12;35(1):45-49. Epub 2019 Feb 12.

Service de Chirurgie Cardiaque,Hôpital Cardiologique Louis Pradel,Université Claude Bernard.

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http://dx.doi.org/10.1017/S0266462318003768DOI Listing
January 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

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

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

Involvement of Gaucher Disease Mutations in Parkinson Disease.

Curr Protein Pept Sci 2017 ;18(7):758-764

Departament de Genetica, Facultat de Biología, Universitat de Barcelona, Av. Diagonal 643, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.2174/1389203717666160311115956DOI Listing
November 2017

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Org Biomol Chem 2017 09;15(37):7977

Laboratoire de Synthèse Organique et Molécules Bioactives (SYBIO), Université de Strasbourg/CNRS (UMR 7509), Ecole Européenne de Chimie, Polymères et Matériaux (ECPM), 25 rue Becquerel, 67087 Strasbourg, France.

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http://dx.doi.org/10.1039/c7ob90148hDOI Listing
September 2017

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Org Biomol Chem 2017 May;15(17):3681-3705

Laboratoire de Synthèse Organique et Molécules Bioactives (SYBIO), Université de Strasbourg/CNRS (UMR 7509), Ecole Européenne de Chimie, Polymères et Matériaux (ECPM), 25 rue Becquerel, 67087 Strasbourg, France.

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http://dx.doi.org/10.1039/c7ob00443eDOI Listing
May 2017

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

Hypertrophic cardiomyopathy: the edge-to-edge secures the correction of the systolic anterior motion.

Eur J Cardiothorac Surg 2017 04;51(4):638-643

Department of Cardiac Surgery, "Louis Pradel" Cardiologic Hospital, "Claude Bernard" University, Lyon, France.

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http://dx.doi.org/10.1093/ejcts/ezw385DOI Listing
April 2017

[Ascending aortic aneurysm: Update to existing guidelines].

Presse Med 2016 Oct 3;45(10):911-918. Epub 2016 Sep 3.

CHU de Lyon, hôpital cardiologique Louis-Pradel, service de chirurgie cardiaque adulte, 28, avenue du Doyen-Lépine, 69677 Bron cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2016.07.024DOI Listing
October 2016

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

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Authors:
Hou-Feng Zheng Vincenzo Forgetta Yi-Hsiang Hsu Karol Estrada Alberto Rosello-Diez Paul J Leo Chitra L Dahia Kyung Hyun Park-Min Jonathan H Tobias Charles Kooperberg Aaron Kleinman Unnur Styrkarsdottir Ching-Ti Liu Charlotta Uggla Daniel S Evans Carrie M Nielson Klaudia Walter Ulrika Pettersson-Kymmer Shane McCarthy Joel Eriksson Tony Kwan Mila Jhamai Katerina Trajanoska Yasin Memari Josine Min Jie Huang Petr Danecek Beth Wilmot Rui Li Wen-Chi Chou Lauren E Mokry Alireza Moayyeri Melina Claussnitzer Chia-Ho Cheng Warren Cheung Carolina Medina-Gómez Bing Ge Shu-Huang Chen Kwangbom Choi Ling Oei James Fraser Robert Kraaij Matthew A Hibbs Celia L Gregson Denis Paquette Albert Hofman Carl Wibom Gregory J Tranah Mhairi Marshall Brooke B Gardiner Katie Cremin Paul Auer Li Hsu Sue Ring Joyce Y Tung Gudmar Thorleifsson Anke W Enneman Natasja M van Schoor Lisette C P G M de Groot Nathalie van der Velde Beatrice Melin John P Kemp Claus Christiansen Adrian Sayers Yanhua Zhou Sophie Calderari Jeroen van Rooij Chris Carlson Ulrike Peters Soizik Berlivet Josée Dostie Andre G Uitterlinden Stephen R Williams Charles Farber Daniel Grinberg Andrea Z LaCroix Jeff Haessler Daniel I Chasman Franco Giulianini Lynda M Rose Paul M Ridker John A Eisman Tuan V Nguyen Jacqueline R Center Xavier Nogues Natalia Garcia-Giralt Lenore L Launer Vilmunder Gudnason Dan Mellström Liesbeth Vandenput Najaf Amin Cornelia M van Duijn Magnus K Karlsson Östen Ljunggren Olle Svensson Göran Hallmans François Rousseau Sylvie Giroux Johanne Bussière Pascal P Arp Fjorda Koromani Richard L Prince Joshua R Lewis Bente L Langdahl A Pernille Hermann Jens-Erik B Jensen Stephen Kaptoge Kay-Tee Khaw Jonathan Reeve Melissa M Formosa Angela Xuereb-Anastasi Kristina Åkesson Fiona E McGuigan Gaurav Garg Jose M Olmos Maria T Zarrabeitia Jose A Riancho Stuart H Ralston Nerea Alonso Xi Jiang David Goltzman Tomi Pastinen Elin Grundberg Dominique Gauguier Eric S Orwoll David Karasik George Davey-Smith Albert V Smith Kristin Siggeirsdottir Tamara B Harris M Carola Zillikens Joyce B J van Meurs Unnur Thorsteinsdottir Matthew T Maurano Nicholas J Timpson Nicole Soranzo Richard Durbin Scott G Wilson Evangelia E Ntzani Matthew A Brown Kari Stefansson David A Hinds Tim Spector L Adrienne Cupples Claes Ohlsson Celia M T Greenwood Rebecca D Jackson David W Rowe Cynthia A Loomis David M Evans Cheryl L Ackert-Bicknell Alexandra L Joyner Emma L Duncan Douglas P Kiel Fernando Rivadeneira J Brent Richards

Nature 2015 Oct 14;526(7571):112-7. Epub 2015 Sep 14.

Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montréal H3A 1A2, Canada.

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http://dx.doi.org/10.1038/nature14878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755714PMC
October 2015

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.

Stem Cell Reports 2015 Oct 24;5(4):546-57. Epub 2015 Sep 24.

Centre de Medicina Regenerativa de Barcelona and Control of Stem Cell Potency Group, Institut de Bioenginyeria de Catalunya, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red en Bioingeniería, Biomaterials y Nanomedicina, 28029 Madrid, Spain; Institució Catalana de Recerca i Estudis Avançats, 08010 Barcelona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711150025
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http://dx.doi.org/10.1016/j.stemcr.2015.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625033PMC
October 2015

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.

Sci Rep 2015 Sep 8;5:13654. Epub 2015 Sep 8.

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

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http://dx.doi.org/10.1038/srep13654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561882PMC
September 2015

Sutureless 3f Enable valve implantation concomitant with mitral valve surgery.

Interact Cardiovasc Thorac Surg 2015 Aug 8;21(2):169-75. Epub 2015 May 8.

Cardiology Unit, Cardiovascular Diseases Department, University Hospital, Saint-Etienne, France.

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http://dx.doi.org/10.1093/icvts/ivv110DOI Listing
August 2015

Combined Minimally Invasive Redo Mitral Surgery and Pectus Excavatum Correction.

J Card Surg 2015 Jul 7;30(7):570-3. Epub 2015 May 7.

Thoracic Surgery Unit, Hôpital Nord, Saint Etienne University Hospital, St-Priest-en-Jarez, France.

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http://dx.doi.org/10.1111/jocs.12559DOI Listing
July 2015

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

JIMD Rep 2016 25;25:57-64. Epub 2015 Jun 25.

Department Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059214PMC
http://dx.doi.org/10.1007/8904_2015_457DOI Listing
June 2015

Total endoscopic sutureless aortic valve replacement: rationale, development, perspectives.

Ann Cardiothorac Surg 2015 Mar;4(2):170-4

1 Cardiovascular Diseases Department, 2 Anesthesiolgy and Reanimation Department, University of St-Etienne, St-Etienne, France.

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http://dx.doi.org/10.3978/j.issn.2225-319X.2014.11.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384245PMC
March 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

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Med Clin (Barc) 2015 Jan 4;144(2):67-72. Epub 2014 Sep 4.

Centro de Investigación Biomédica en Red en enfermedades raras (CIBERER); Laboratorio Diagnóstico Molecular, Servicio de Bioquímica, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2014.06.009DOI Listing
January 2015

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Int J Biochem Cell Biol 2014 09 30;54:245-54. Epub 2014 Jul 30.

Research Unit on BioActive Molecules (RUBAM), Departament de Química Biomèdica, Institut de Química Avançada de Catalunya (IQAC-CSIC), Jordi Girona 18, 08034 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.07.017DOI Listing
September 2014

Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.

ChemMedChem 2014 Aug 27;9(8):1744-54. Epub 2014 Jun 27.

Departament de Genètica, Universitat de Barcelona (UB), IBUB; CIBER de Enfermedades Raras (CIBERER), Av. Diagonal 643, 08028, Barcelona (Spain).

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http://doi.wiley.com/10.1002/cmdc.201402023
Publisher Site
http://dx.doi.org/10.1002/cmdc.201402023DOI Listing
August 2014

Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries.

Cell Rep 2014 May 17;7(3):883-97. Epub 2014 Apr 17.

Departament de Biologia Cel·lular, Immunologia i Neurociències, Facultat de Medicina, Universitat de Barcelona, 08036 Barcelona, Spain; Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.03.043DOI Listing
May 2014

Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

Nucleic Acid Ther 2014 Feb;24(1):48-56

1 Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid , Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain .

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http://dx.doi.org/10.1089/nat.2013.0453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922136PMC
February 2014

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

Total percutaneous femoral vessels cannulation for minimally invasive mitral valve surgery.

Ann Cardiothorac Surg 2013 Nov;2(6):739-43

Department of Cardiac Surgery, "Cardiothoracic Hospital Louis Pradel", Hospices Civils de Lyon, "Claude Bernard" University, Lyon, France;

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http://www.annalscts.com/article/view/2884/html
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http://dx.doi.org/10.3978/j.issn.2225-319X.2013.08.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856992PMC
November 2013

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

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http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

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

Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.

JIMD Rep 2012 1;4:29-37. Epub 2011 Nov 1.

Departament de Genètica, Universitat de Barcelona, Institut de Biomedicina de la Universitat de Barcelona (IBUB), CIBER de Enfermedades Raras (CIBERER), Av. Diagonal 645, E-08028, Barcelona, Spain.

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http://dx.doi.org/10.1007/8904_2011_64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509875PMC
February 2013

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Mol Genet Metab 2012 Dec 14;107(4):716-20. Epub 2012 Oct 14.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.10.004DOI Listing
December 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

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

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Orphanet J Rare Dis 2012 Mar 19;7:17. Epub 2012 Mar 19.

Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain.

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http://dx.doi.org/10.1186/1750-1172-7-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349595PMC
March 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

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Mol Genet Metab 2011 Feb 29;102(2):226-8. Epub 2010 Oct 29.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.004DOI Listing
February 2011

Present and future of antisense therapy for splicing modulation in inherited metabolic disease.

J Inherit Metab Dis 2010 Aug 25;33(4):397-403. Epub 2010 Jun 25.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, 28049, Madrid, Spain.

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http://dx.doi.org/10.1007/s10545-010-9135-1DOI Listing
August 2010

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

Hum Mutat 2009 Nov;30(11):E993-E1001

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

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http://dx.doi.org/10.1002/humu.21119DOI Listing
November 2009

Recent patents relating to siRNAs and therapeutic strategies for genetic diseases.

Authors:
Daniel Grinberg

Recent Pat DNA Gene Seq 2008 ;2(1):40-3

Department of Genetics, University of Barcelona, CIBERER, IBUB, Barcelona, Av. Diagonal 645, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.2174/187221508783406530DOI Listing
May 2009

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.

Blood Cells Mol Dis 2009 Mar-Apr;42(2):159-66. Epub 2009 Jan 22.

Departament de Genètica, Universitat de Barcelona, IBUB, CIBER de Enfermedades Raras (CIBERER), Av. Diagonal 645, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.bcmd.2008.11.002DOI Listing
May 2009

SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing.

BMC Res Notes 2008 Dec 29;1:137. Epub 2008 Dec 29.

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

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http://dx.doi.org/10.1186/1756-0500-1-137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2631023PMC
December 2008

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

Mol Genet Metab 2008 Jul 10;94(3):305-12. Epub 2008 Apr 10.

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

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http://dx.doi.org/10.1016/j.ymgme.2008.02.012DOI Listing
July 2008

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

Mol Genet Metab 2007 Sep-Oct;92(1-2):122-30. Epub 2007 Jul 20.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 645, edifici annex, 3a planta, E-08028 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.002DOI Listing
November 2007

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

J Lipid Res 2007 Oct 30;48(10):2275-82. Epub 2007 Jul 30.

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

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http://dx.doi.org/10.1194/jlr.M700308-JLR200DOI Listing
October 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

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

RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases.

Blood Cells Mol Dis 2006 Nov-Dec;37(3):197-203. Epub 2006 Sep 7.

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

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http://dx.doi.org/10.1016/j.bcmd.2006.07.002DOI Listing
February 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

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

J Inherit Metab Dis 2006 Aug 8;29(4):591. Epub 2006 Jul 8.

Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece,

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http://dx.doi.org/10.1007/s10545-006-0316-xDOI Listing
August 2006