Lista de obras - D Grinberg - Dominio Público Uruguay

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

article

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

artículo científico publicado en 2018

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

scientific article published on 10 March 2017

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

article

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

artículo científico publicado en 1997

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

artículo científico publicado en 2015

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

article

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

artículo científico publicado en 2013

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

artículo científico publicado en 2005

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

article

Bone Mass of a 113-Year-Old Man

artículo científico publicado en 2007

Bone development and remodeling in metabolic disorders

artículo científico publicado en 2019

COL1A1 haplotypes and hip fracture.

artículo científico publicado en 2012

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

article

CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

scientific article published on 15 March 2019

Differential Genetic Effects of ESR1 Gene Polymorphisms on Osteoporosis Outcomes

scientific article published in The Journal of the American Medical Association

Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease

artículo científico

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

artículo científico publicado en 2015

Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

artículo científico publicado en 2015

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

article

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

scientific article published on 30 July 2007

Expression and functional characterization of human mutant sulfamidase in insect cells.

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

article

Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> Locus

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

artículo científico publicado en 2004

Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation.

artículo científico publicado en 2005

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

artículo científico publicado en 2006

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

artículo científico publicado en 2017

Gaucher disease in Spanish patients: Analysis of eight mutations

article

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients

scientific article published on 14 February 2003

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

artículo científico publicado en 2014

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172

article

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

artículo científico publicado en 1997

Genetics and Genomics of <i>SOST</i>: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

artículo científico publicado en 2021

Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry

scientific article published on 27 June 2014

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

artículo científico publicado en 1995

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

artículo científico publicado en 2009

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

artículo científico publicado en 2007

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis

scientific article published on 01 August 2007

Identification of positive and negative regulatory elements involved in the retinoic acid/cAMP induction of Fgf-3 transcription in F9 cells.

artículo científico publicado en 1993

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

artículo científico publicado en 2007

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

artículo científico publicado en 2021

Involvement of Gaucher Disease Mutations in Parkinson Disease.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

scientific article published on 01 January 1998

Molecular analysis of 30 Niemann-Pick type C patients from Spain

artículo científico publicado en 2010

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

artículo científico publicado en 2013

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

scientific article published on 01 December 1998

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

artículo científico publicado en 2013

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

artículo científico publicado en 2020

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

article

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

artículo científico publicado en 2001

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.

artículo científico publicado en 2017

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

artículo científico publicado en 2013

No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsy

scientific article published on 01 June 2000

On the age of the most prevalent Gaucher disease-causing mutation, N370S.

artículo científico publicado en 2000

Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

article

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

artículo científico publicado en 2018

Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women

article

Putative association of a mutant ROM1 allele with retinitis pigmentosa

artículo científico publicado en 1997

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

artículo científico publicado en 2006

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

artículo científico publicado en 1998

Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease

artículo científico publicado en 1998

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

artículo científico publicado en 2008

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

scientific article published on 22 October 2020

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

scientific article published on 02 July 2013

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

artículo científico publicado en 2015

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

The Spectrum of Niemann-Pick Type C Disease in Greece.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

artículo científico publicado en 2014

Transcriptional regulation of the int-2 gene in embryonal carcinoma cells ⬇️

artículo científico publicado el 1 de marzo de 1991

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

artículo científico publicado en 2006

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

scientific article published on 01 June 1997

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

artículo científico publicado en 2002

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

scientific article published on 01 January 1996

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

artículo científico publicado en 2003

[Clinical and molecular study in a family with multiple osteochondromatosis]

artículo científico publicado en 2018

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]

artículo científico publicado en 2015

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

artículo científico publicado en 2011

Lista de obras de D Grinberg

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

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

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

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

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

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

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

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

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

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

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

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

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

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

Bone Mass of a 113-Year-Old Man

Bone development and remodeling in metabolic disorders

COL1A1 haplotypes and hip fracture.

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

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

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

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

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

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

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

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

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

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

Differential Genetic Effects of ESR1 Gene Polymorphisms on Osteoporosis Outcomes

Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease

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

Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.

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

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

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

Expression and functional characterization of human mutant sulfamidase in insect cells.

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

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> Locus

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

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation.

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

Gaucher disease in Spanish patients: Analysis of eight mutations

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients

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

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

Genetics and Genomics of <i>SOST</i>: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

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

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

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis

Identification of positive and negative regulatory elements involved in the retinoic acid/cAMP induction of Fgf-3 transcription in F9 cells.

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

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

Involvement of Gaucher Disease Mutations in Parkinson Disease.

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

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

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

Molecular analysis of 30 Niemann-Pick type C patients from Spain

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

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

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

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

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

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.