All Stories

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Article • Pediatric Neurology, June 2024, Elsevier

    Daniel Grinberg

  2. Evolutionary and functional analyses of LRP5 in archaic and extant modern humans

    Article • Human Genomics, May 2024, Springer Science + Business Media

    Daniel Grinberg

  3. Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

    Article • Journal of Medical Genetics, March 2024, BMJ

    Daniel Grinberg

  4. A crowdsourcing database for the copy-number variation of the Spanish population

    Article • Human Genomics, March 2023, Springer Science + Business Media

    Daniel Grinberg

  5. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

    Article • Journal of Medical Genetics, September 2022, BMJ

    Daniel Grinberg

  6. Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions

    Article • Bone, August 2022, Elsevier

    Daniel Grinberg

  7. On the association between Chiari malformation type 1, bone mineral density and bone related genes

    Article • Bone Reports, June 2022, Elsevier

    Daniel Grinberg

  8. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

    Article • Journal of Molecular Diagnostics, May 2022, Elsevier

    Daniel Grinberg

  9. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    Article • International Journal of Molecular Sciences, April 2022, MDPI AG

    Daniel Grinberg

  10. Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

    Article • JBMR Plus, February 2022, Oxford University Press (OUP)

    Daniel Grinberg

  11. CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Article • Clinical Genetics, February 2022, Wiley

    Dr Carlos Santos Ocaña, Daniel Grinberg

  12. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

    Article • Journal of Medical Case Reports, January 2022, Springer Science + Business Media

    Daniel Grinberg

  13. Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment

    Article • Genes, January 2022, MDPI AG

    Daniel Grinberg

  14. Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis

    Article • Genes, January 2022, MDPI AG

    Daniel Grinberg

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

    Article • Frontiers in Endocrinology, November 2021, Frontiers

    Daniel Grinberg

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

    Article • Frontiers in Endocrinology, August 2021, Frontiers

    Daniel Grinberg

  17. Human oocyte meiotic maturation is associated with a specific profile of alternatively spliced transcript isoforms

    Article • Molecular Reproduction and Development, August 2021, Wiley

    Daniel Grinberg

  18. Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

    Article • International Journal of Molecular Sciences, July 2021, MDPI AG

    Daniel Grinberg

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

    Article • International Journal of Molecular Sciences, March 2021, MDPI AG

    Daniel Grinberg

  20. De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

    Article • International Journal of Molecular Sciences, February 2021, MDPI AG

    Daniel Grinberg

  21. Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

    Article • International Journal of Molecular Sciences, January 2021, MDPI AG

    Daniel Grinberg

  22. Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling

    Article • January 2021, Springer Science + Business Media

    Daniel Grinberg

  23. Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

    Article • JBMR Plus, November 2020, Wiley

    Daniel Grinberg

  24. Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

    Article • International Journal of Molecular Sciences, October 2020, MDPI AG

    Daniel Grinberg

  25. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Article • Nucleic Acids Research, September 2020, Oxford University Press (OUP)

    Daniel Grinberg

  26. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Article • Journal of Molecular Diagnostics, September 2020, Elsevier

    Daniel Grinberg

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

    Article • Molecular Genetics and Metabolism Reports, September 2020, Elsevier

    Daniel Grinberg

  28. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Article • Genetics in Medicine, July 2020, Elsevier

    Daniel Grinberg

  29. Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts

    Article • Applied Sciences, April 2020, MDPI AG

    Daniel Grinberg

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

    Article • Journal of Clinical Medicine, February 2020, MDPI AG

    Daniel Grinberg

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

    Article • Orphanet Journal of Rare Diseases, February 2020, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Stem Cell Research, January 2020, Elsevier

    Daniel Grinberg

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

    Article • Clinical Genetics, December 2019, Wiley

    MD, PhD Guillem PINTOS-MORELL, Daniel Grinberg

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

    Article • Stem Cell Research, December 2019, Elsevier

    Daniel Grinberg

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

    Article • American Journal of Medical Genetics Part A, November 2019, Wiley

    Daniel Grinberg

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

    Article • Bone, June 2019, Elsevier

    Daniel Grinberg

  37. Bone development and remodeling in metabolic disorders

    Article • Journal of Inherited Metabolic Disease, April 2019, Wiley

    Daniel Grinberg

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

    Article • European Journal of Human Genetics, April 2019, Springer Science + Business Media

    Daniel Grinberg

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

    Article • European Journal of Human Genetics, March 2019, Springer Science + Business Media

    Daniel Grinberg

  40. C syndrome - what do we know and what could the future hold?

    Article • Expert Opinion on Orphan Drugs, March 2019, Taylor & Francis

    Daniel Grinberg

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

    Article • Medicine, February 2019, Wolters Kluwer Health

    Daniel Grinberg

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

    Article • PLoS ONE, November 2018, PLOS

    Daniel Grinberg

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

    Article • Journal of Bone and Mineral Research, September 2018, Wiley

    Daniel Grinberg

  44. Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

    Article • BMJ, August 2018, BMJ

    Daniel Grinberg

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

    Article • Scientific Reports, July 2018, Springer Science + Business Media

    Daniel Grinberg

  46. The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

    Article • Clinical Case Reports, June 2018, Wiley

    Daniel Grinberg

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

    Article • Scientific Reports, January 2018, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Human Cell, September 2017, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Osteoporosis International, August 2017, Springer Science + Business Media

    Daniel Grinberg

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

    Article • BMC Medical Genomics, May 2017, Springer Science + Business Media

    Daniel Grinberg

  51. Involvement of Gaucher Disease Mutations in Parkinson Disease

    Article • Current Protein and Peptide Science, May 2017, Bentham Science Publishers

    Daniel Grinberg

  52. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates

    Article • New England Journal of Medicine, May 2017, New England Journal of Medicine (NEJM/MMS)

    Daniel Grinberg

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

    Article • Scientific Reports, March 2017, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Scientific Reports, February 2017, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Organic & Biomolecular Chemistry, January 2017, Royal Society of Chemistry

    Daniel Grinberg

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

    Article • Organic & Biomolecular Chemistry, January 2017, Royal Society of Chemistry

    Daniel Grinberg

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

    Article • JIMD Reports, January 2017, Springer Science + Business Media

    Daniel Grinberg

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

    Article • BMC Medical Genomics, November 2015, Springer Science + Business Media

    Daniel Grinberg

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

    Article • American Journal of Medical Genetics Part A, October 2015, Wiley

    Daniel Grinberg

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

    Article • Stem Cell Reports, October 2015, Elsevier

    Daniel Grinberg

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

    Article • Nature, September 2015, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Scientific Reports, September 2015, Springer Science + Business Media

    Daniel Grinberg

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

    Article • PLoS ONE, August 2015, PLOS

    Daniel Grinberg

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

    Article • Journal of Molecular Endocrinology, June 2015, Bioscientifica

    Daniel Grinberg

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

    Article • JIMD Reports, January 2015, Springer Science + Business Media

    Daniel Grinberg

  66. Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

    Article • Medicina Clínica, January 2015, Elsevier

    Daniel Grinberg

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

    Article • Orphanet Journal of Rare Diseases, December 2014, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Scientific Reports, September 2014, Springer Science + Business Media

    Daniel Grinberg

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

    Article • The International Journal of Biochemistry & Cell Biology, September 2014, Elsevier

    Daniel Grinberg

  70. Cholesterol Regulates Syntaxin 6 Trafficking at trans-Golgi Network Endosomal Boundaries

    Article • Cell Reports, May 2014, Elsevier

    Daniel Grinberg

  71. Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women

    Article • PLoS ONE, April 2014, PLOS

    Daniel Grinberg, DR. JORGE MALOUF-SIERRA

  72. Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery

    Article • Nucleic Acid Therapeutics, February 2014, Mary Ann Liebert Inc

    Daniel Grinberg

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

    Article • ChemMedChem, January 2014, Wiley

    Daniel Grinberg

  74. Analyses ofRANKandRANKLin the Post-GWAS Context: Functional Evidence of Vitamin D Stimulation Through aRANKLDistal Region

    Article • Journal of Bone and Mineral Research, November 2013, Wiley

    Daniel Grinberg

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

    Article • Geriatrics and Gerontology International, September 2013, Wiley

    Daniel Grinberg

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

    Article • Molecular Genetics & Genomic Medicine, July 2013, Wiley

    Dr Jose M Fernandez-Fernandez, Daniel Grinberg

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

    Article • Breast Cancer Research and Treatment, July 2013, Springer Science + Business Media

    Daniel Grinberg

  78. Niemann-Pick type C disease: a novelNPC1mutation segregating in a Greek island

    Article • Clinical Genetics, June 2013, Wiley

    Daniel Grinberg

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

    Article • Scientific Reports, February 2013, Springer Science + Business Media

    Daniel Grinberg

  80. Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

    Article • Molecular Genetics and Metabolism, December 2012, Elsevier

    Daniel Grinberg

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

    Article • Journal of Bone and Joint Surgery, June 2012, The Journal of Bone and Joint Surgery, Inc.

    Daniel Grinberg

  82. COL1A1haplotypes and hip fracture

    Article • Journal of Bone and Mineral Research, March 2012, Wiley

    Daniel Grinberg

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

    Article • Orphanet Journal of Rare Diseases, January 2012, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Movement Disorders, December 2011, Wiley

    Jordi Clarimon, Daniel Grinberg

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

    Article • Human Mutation, June 2011, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Molecular Genetics and Metabolism, February 2011, Elsevier

    Daniel Grinberg

  87. Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference

    Article • JIMD Reports, January 2011, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Clinical Genetics, August 2010, Wiley

    Daniel Grinberg

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

    Article • Clinical Genetics, July 2010, Wiley

    Daniel Grinberg

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

    Article • Journal of Inherited Metabolic Disease, June 2010, Wiley

    Daniel Grinberg

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

    Article • Clinical Genetics, February 2010, Wiley

    Daniel Grinberg

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

    Article • Blood Cells Molecules and Diseases, February 2010, Elsevier

    Daniel Grinberg

  93. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

    Article • Human Mutation, November 2009, Hindawi Publishing Corporation

    Daniel Grinberg

  94. Identification and characterization ofSMPD1mutations causing Niemann-Pick types A and B in Spanish patients

    Article • Human Mutation, July 2009, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Osteoporosis International, May 2009, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Blood Cells Molecules and Diseases, March 2009, Elsevier

    Daniel Grinberg

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

    Article • Journal of Bone and Mineral Research, December 2008, Wiley

    Daniel Grinberg

  98. Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

    Article • Molecular Genetics and Metabolism, July 2008, Elsevier

    Daniel Grinberg

  99. Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: The GENOMOS study

    Article • Bone, May 2008, Elsevier

    Dr. ALBERTO FALCHETTI, Daniel Grinberg

  100. Large-Scale Analysis of Association Between <emph type="ital">LRP5</emph> and <emph type="ital">LRP6</emph> Variants and Osteoporosis

    Article • JAMA, March 2008, American Medical Association (AMA)

    Daniel Grinberg

  101. An evolutionary and structure‐based docking model for glucocerebrosidase–saposin C and glucocerebrosidase–substrate interactions—Relevance for Gaucher disease

    Article • Proteins Structure Function and Bioinformatics, January 2008, Wiley

    Daniel Grinberg

  102. Recent Patents Relating to siRNAs and Therapeutic Strategies for Genetic Diseases

    Article • Recent Patents on DNA & Gene Sequences, January 2008, Bentham Science Publishers

    Daniel Grinberg

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

    Article • Human Mutation, January 2008, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • BMC Research Notes, January 2008, Springer Science + Business Media

    Daniel Grinberg

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

    Article • European Journal of Endocrinology, November 2007, Oxford University Press (OUP)

    Daniel Grinberg

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

    Article • Journal of Lipid Research, October 2007, Elsevier

    Daniel Grinberg

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

    Article • Calcified Tissue International, September 2007, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Molecular Genetics and Metabolism, September 2007, Elsevier

    Daniel Grinberg

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

    Article • Clinical Biochemistry, August 2007, Elsevier

    Daniel Grinberg

  110. Identification of a novel pseudodeficiency allele in theGLB1gene in a carrier of GM1 gangliosidosis

    Article • Clinical Genetics, July 2007, Wiley

    Daniel Grinberg

  111. Bone Mass of a 113-Year-Old Man

    Article • The Journals of Gerontology Series A, July 2007, Oxford University Press (OUP)

    Daniel Grinberg

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

    Article • Clinical Genetics, February 2007, Wiley

    Daniel Grinberg

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

    Article • Journal of Cellular Biochemistry, January 2007, Wiley

    Daniel Grinberg

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

    Article • Blood Cells Molecules and Diseases, November 2006, Elsevier

    Daniel Grinberg

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

    Article • Osteoporosis International, October 2006, Springer Science + Business Media

    Daniel Grinberg

  116. Haplotypes Defined by Promoter and Intron 1 Polymorphisms of theCOLIA1Gene Regulate Bone Mineral Density in Women

    Article • The Journal of Clinical Endocrinology & Metabolism, September 2006, Endocrine Society

    Daniel Grinberg

  117. The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis

    Article • Annals of Internal Medicine, August 2006, American College of Physicians

    Daniel Grinberg

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

    Article • Journal of Inherited Metabolic Disease, July 2006, Wiley

    Daniel Grinberg

  119. High prevalence ofCBS p.T191M mutation in homocystinuric patients from Colombia

    Article • Human Mutation, March 2006, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Human Mutation, February 2006, Hindawi Publishing Corporation

    Daniel Grinberg

  121. 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

    Article • Human Mutation, January 2006, Wiley

    Daniel Grinberg

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

    Article • Blood Cells Molecules and Diseases, January 2006, Elsevier

    Daniel Grinberg

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

    Article • Molecular Genetics and Metabolism, September 2005, Elsevier

    Daniel Grinberg

  124. 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

    Article • Blood Cells Molecules and Diseases, September 2005, Elsevier

    Daniel Grinberg

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

    Article • Human Genetics, April 2005, Springer Science + Business Media

    Daniel Grinberg

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

    Article • International Journal of Medical Sciences, January 2005, Ivyspring International Publisher

    Daniel Grinberg

  127. Differential Genetic Effects of <EMPH TYPE="ITAL">ESR1</EMPH> Gene Polymorphisms on Osteoporosis Outcomes

    Article • JAMA, November 2004, American Medical Association (AMA)

    Daniel Grinberg

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

    Article • Molecular Genetics and Metabolism, November 2004, Elsevier

    Daniel Grinberg

  129. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

    Article • Journal of Inherited Metabolic Disease, November 2004, Wiley

    Daniel Grinberg

  130. Functional analysis of 13GBAmutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

    Article • Human Mutation, April 2004, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Blood Cells Molecules and Diseases, September 2003, Elsevier

    Daniel Grinberg

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

    Article • Human Mutation, June 2003, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • European Journal of Endocrinology, May 2003, Oxford University Press (OUP)

    Daniel Grinberg

  134. Two New Single-Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density

    Article • Journal of Bone and Mineral Research, March 2002, Wiley

    Daniel Grinberg

  135. 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

    Article • Blood Cells Molecules and Diseases, September 2001, Elsevier

    Daniel Grinberg

  136. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Daniel Grinberg

  137. Homocysteine and the MTHFR 677C→T allele in premature coronary artery disease. Case control and family studies

    Article • European Journal of Clinical Investigation, January 2001, Wiley

    Daniel Grinberg

  138. A New Gene–Pseudogene Fusion Allele Due to a Recombination in Intron 2 of the Glucocerebrosidase Gene Causes Gaucher Disease

    Article • Blood Cells Molecules and Diseases, October 2000, Elsevier

    Daniel Grinberg

  139. Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago

    Article • The American Journal of Human Genetics, April 1999, Elsevier

    Daniel Grinberg

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

    Article • Journal of Medical Genetics, September 1998, BMJ

    Daniel Grinberg

  141. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

    Article • Journal of Medical Genetics, February 1998, BMJ

    Daniel Grinberg

  142. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

    Article • Human Mutation, January 1998, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Daniel Grinberg, Rita Barone

  144. A novel mutation in exon 17 of the ?-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

    Article • Human Genetics, January 1996, Springer Science + Business Media

    Daniel Grinberg

  145. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

    Article • Journal of Medical Genetics, September 1995, BMJ

    Daniel Grinberg

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

    Article • Human Genetics, July 1995, Springer Science + Business Media

    Daniel Grinberg

  147. Gaucher disease in Spanish patients: Analysis of eight mutations

    Article • Human Mutation, January 1995, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Human Mutation, January 1995, Hindawi Publishing Corporation

    Daniel Grinberg

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

    Article • Human Genetics, August 1994, Springer Science + Business Media

    Daniel Grinberg

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

    Article • Nucleic Acids Research, January 1993, Oxford University Press (OUP)

    Daniel Grinberg

  151. Starvation enhances lipoprotein lipase activity in the liver of the newborn rat

    Article • Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, February 1985, Elsevier

    Daniel Grinberg