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List of works by Daniel Grinberg

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

scientific article published on 13 August 2021

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

scientific article published on 23 April 2005

A tensed Tendyne

scientific article published on 25 April 2020

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

scientific article published in November 2009

Artificial mitral chordae: When length matters

scientific article published on 29 September 2018

Ascending aortic aneurysm: Update to existing guidelines

scientific article

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

scientific article published on 10 May 2019

Combined Minimally Invasive Redo Mitral Surgery and Pectus Excavatum Correction

scientific article published on 07 May 2015

Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain

scientific article published on 30 September 2013

Design and evaluation of a transesophageal HIFU probe for ultrasound-guided cardiac ablation: simulation of a HIFU mini-maze procedure and preliminary ex vivo trials

scientific article published on September 2013

Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

scientific article published on 01 April 2007

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

scientific article published on 06 November 2019

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

scientific article published on 10 February 2020

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

scientific article published on 14 March 2019

Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation

scientific article (publication date: May 2011)

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

scientific article published on 07 June 2020

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

scientific article published on November 2011

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome

scientific article published on 29 November 2019

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

scientific article published on 24 October 2019

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

scientific article published on 19 July 2013

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

scientific article published in June 2008

High rate of arterial complications in patients supported with extracorporeal life support for drug intoxication-induced refractory cardiogenic shock or cardiac arrest.

scientific article published on July 2017

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

scientific article

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

scientific article published on 22 December 2016

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

scientific article published on 7 June 2011

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

scientific article

Incidence, predictors, and clinical impact of electrical storm in patients with left ventricular assist devices: New insights from the ASSIST-ICD study

scientific article published on 27 June 2019

Influence of trends in hospital volume over time on patient outcomes for high-risk surgery

scientific article published on 01 April 2020

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

scientific article

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

scientific article published on 17 October 2018

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

scientific article published on 26 June 2019

Mitral valve repair based on intraoperative objective measurement

scientific article published on 18 March 2019

Mitral valve repair based on physical characterization of coaptation forces

scientific article published on 28 August 2019

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

scientific article published on 12 December 2019

Outcomes after extracorporeal life support for postcardiotomy cardiogenic shock

scientific article published on 12 January 2019

Percutaneous Repair for Secondary Mitral Regurgitation. Reply

scientific article published on 01 May 2019

Percutaneous left ventricular unloading in veno-arterial extracorporeal membrane oxygenation

scientific article published on 04 January 2021

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease

scientific article published in September 2005

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

scientific article published on 01 December 2021

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

scientific article published on 07 May 2020

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

scientific article published in May 2005

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

scientific article published on 25 June 2010

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

scientific article published on 22 January 2009

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

scientific article published on 01 January 2019

Recent patents relating to siRNAs and therapeutic strategies for genetic diseases

scientific article published on January 2008

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

scientific article published on May 2003

Risk factors and prognostic impact of left ventricular assist device-associated infections

scientific article published on 06 May 2019

Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures

scientific article published on August 2007

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

scientific article

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

scientific article published on 8 May 2015

The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis

scientific article

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

scientific article published on March 2015

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

scientific article published on November 2013

Totally endoscopic aortic valve replacement (TEAVR).

scientific article published on March 2015

Tracing Toxic Legacies: GIS and the Dispersed Violence of Agent Orange

Transcatheter aortic valve implantation using the left transcarotid approach in patients with previous ipsilateral carotid endarterectomy.

scientific article published on 27 December 2014

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β‐glucocerebrosidase gene in Gaucher's disease patients

article

Veno-arterial extracorporeal membrane oxygenation for cardiogenic shock due to myocarditis in adult patients

scientific article

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

scientific article published on 01 April 2019

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

scientific article

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