R Oliva

Summary

Country: Spain

Publications

  1. ncbi request reprint High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates
    Maite de Llanos
    Grup de Genètica Humana, Departament de Ciències Fisiològiques I, Faculty of Medicine, University of Barcelona, Spain
    Hum Reprod 20:216-20. 2005
  2. pmc A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
    R Queralt
    Genetics Service, Hospital Clinic, Universitat de Barcelona, Spain
    J Neurol Neurosurg Psychiatry 72:266-9. 2002
  3. ncbi request reprint The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Rafael Oliva
    Grup de Genètica Molecular, Hospital Clinic, Faculty of Medicine, University of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Endocrine 24:111-4. 2004
  4. ncbi request reprint Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection
    R Oliva
    Genetics Service, Institut de Investigacions Biomediques August Pi i Sonyer, Barcelona, Spain
    Arch Neurol 55:1122-4. 1998
  5. ncbi request reprint Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer, Casanova 143, 08036, Barcelona, Spain
    Gene 225:77-87. 1998
  6. ncbi request reprint A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease
    A Lleo
    Neurology Service, Hospital Clinic, IDIBAPS, Barcelona, Spain
    Neurology 57:1926-8. 2001
  7. pmc Sequence analysis of tau 3'untranslated region and saitohin gene in sporadic progressive supranuclear palsy
    M Ezquerra
    Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic Universitari, Barcelona, Spain
    J Neurol Neurosurg Psychiatry 75:155-7. 2004
  8. ncbi request reprint Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain
    R Queralt
    Genetics Service, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS, , Villarroel 170, 08036, Barcelona, Spain
    Neurosci Lett 299:239-41. 2001
  9. ncbi request reprint Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain
    Blood Cells Mol Dis 27:35-43. 2001
  10. ncbi request reprint Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease
    P Pastor
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic, IDIBAPS, Barcelona, Spain
    Mov Disord 16:1115-9. 2001

Collaborators

Detail Information

Publications39

  1. ncbi request reprint High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates
    Maite de Llanos
    Grup de Genètica Humana, Departament de Ciències Fisiològiques I, Faculty of Medicine, University of Barcelona, Spain
    Hum Reprod 20:216-20. 2005
    ..Our objective was to study the presence of the gr/gr deletion in ICSI candidates in our population and to determine whether the laboratory, clinical and ICSI outcome were different in the gr/gr deleted patients...
  2. pmc A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
    R Queralt
    Genetics Service, Hospital Clinic, Universitat de Barcelona, Spain
    J Neurol Neurosurg Psychiatry 72:266-9. 2002
    ..The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism...
  3. ncbi request reprint The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Rafael Oliva
    Grup de Genètica Molecular, Hospital Clinic, Faculty of Medicine, University of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Endocrine 24:111-4. 2004
    ..To our knowledge our study is the first one to report an earlier age of onset in type 2 diabetic patients carrying HFE mutations...
  4. ncbi request reprint Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection
    R Oliva
    Genetics Service, Institut de Investigacions Biomediques August Pi i Sonyer, Barcelona, Spain
    Arch Neurol 55:1122-4. 1998
    ..Progressive supranuclear palsy (PSP) is characterized by intraneuronal inclusions of neurofibrillary tangles formed by aggregated tau protein. A significant association between the tau gene A0/A0 genotype and PSP recently has been reported...
  5. ncbi request reprint Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer, Casanova 143, 08036, Barcelona, Spain
    Gene 225:77-87. 1998
    ....
  6. ncbi request reprint A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease
    A Lleo
    Neurology Service, Hospital Clinic, IDIBAPS, Barcelona, Spain
    Neurology 57:1926-8. 2001
    ..Haplotype analysis indicated that his affected mother was the most probable mutation carrier. The D439A mutation is located near the C-terminal end of the PS2 protein, a region critical for endoproteolytic processing...
  7. pmc Sequence analysis of tau 3'untranslated region and saitohin gene in sporadic progressive supranuclear palsy
    M Ezquerra
    Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic Universitari, Barcelona, Spain
    J Neurol Neurosurg Psychiatry 75:155-7. 2004
    ..Recently, a new gene called saitohin (STH), nested within an intron of tau, has been discovered. The Q7R polymorphism of STH appears to be related to late onset Alzheimer's disease...
  8. ncbi request reprint Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain
    R Queralt
    Genetics Service, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS, , Villarroel 170, 08036, Barcelona, Spain
    Neurosci Lett 299:239-41. 2001
    ..The detection of the M139T mutation in an independent EOAD family strongly supports the pathogenicity of this mutation in familial Alzheimer disease (AD)...
  9. ncbi request reprint Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain
    Blood Cells Mol Dis 27:35-43. 2001
    ..Additionally, we report two novel end forms of the human HFE gene detected by 3' RACE experiments and several novel splicing forms identified in the HepG2 cell line...
  10. ncbi request reprint Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease
    P Pastor
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic, IDIBAPS, Barcelona, Spain
    Mov Disord 16:1115-9. 2001
    ..These results suggest that mutations in the alpha-synuclein gene are a very rare cause of familial PD and that the novel -164insA/C-116G polymorphism in the 5' flanking region does not confer susceptibility to develop PD...
  11. ncbi request reprint A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
    M Ezquerra
    Genetics Service, Institut de Investigació Biomédica Agustí Pi i Sunyer, Hospital Clinic and Faculty of Medicine, University of Barcelona, Spain
    Neurology 52:566-70. 1999
    ..To characterize the mutation responsible for early-onset AD in a large Spanish kindred...
  12. ncbi request reprint [Sporadic and familial Parkinson's disease: comparative study]
    E Munoz
    Unidad de Movimientos Anormales, Servicios de Neurologia, Hospital Clinic i Universitari de Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Med Clin (Barc) 116:601-4. 2001
    ..The goals of this work were to identify patients with familial PD and to analyse whether there existed distinctive features between familial and sporadic cases...
  13. doi request reprint Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes
    M Jodar
    Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Barcelona, Spain
    Int J Androl 34:470-85. 2011
    ..Pathogenic high penetrance protamine gene missense mutations, if any, must be extremely rare. However, the detected presence of rare variants and haplotypes in infertile patients deserves further investigation...
  14. ncbi request reprint SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite
    E Margarit
    Servei de Genètica Hospital Clínic de Barcelona, Barcelona, Spain
    Am J Med Genet 90:25-8. 2000
    ..The possible origin of the Yp/Xq translocation, during paternal meiosis or in somatic paternal cells, is discussed...
  15. ncbi request reprint Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection
    R Oliva
    Genetics Service, Hospital Clinic i Provincial of Barcelona, Faculty of Medicine, University of Barcelona, Spain
    Fertil Steril 70:506-10. 1998
    ..To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection (ICSI) candidates and in 50 consecutively seen azoospermic men attending an infertility clinic...
  16. ncbi request reprint Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    P Pastor
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Ann Neurol 49:263-7. 2001
    ..This finding indicates that homozygous mutations in the tau gene may also cause hereditary tauopathies...
  17. pmc Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism
    E Munoz
    Movemente Disorder Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Villarroel 170, 08036 Barcelona, Spain
    J Neurol Neurosurg Psychiatry 73:582-4. 2002
    ..Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene...
  18. doi request reprint PICOGEN: five years experience with a genetic counselling program for dementia
    J Fortea
    Unidad de Alzheimer y Otros Trastornos Cognitivos, Hospital Clinic de Barcelona, Barcelona, Spain
    Neurologia 26:143-9. 2011
    ..We describe the 5 year experience of a genetic counselling program for familial dementias (the PICOGEN program)...
  19. ncbi request reprint Population screening for hemochromatosis: a study in 5370 Spanish blood donors
    Mayka Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Casanova 143, 08036, Barcelona, Spain
    J Hepatol 38:745-50. 2003
    ..We conducted a population-based study in Spain to asses the prevalence of the HFE mutations and their effect on iron parameters...
  20. doi request reprint Improvement in chromatin maturity of human spermatozoa selected through density gradient centrifugation
    S De Mateo
    Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Barcelona, Spain
    Int J Androl 34:256-67. 2011
    ..However, most nucleosome and related proteins/modifications differ between OAT and normozoospermic men, even after gradient centrifugation, providing evidence for incomplete nuclear maturity in OAT patients...
  21. ncbi request reprint Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation
    J M Vidal-Taboada
    Human Genetics Research Group, Institut d Investigacions Biomediques August Pi i Sunyer, Faculty of Medicine, University of Barcelona, Spain
    Biochem Biophys Res Commun 272:156-63. 2000
    ..The expression pattern throughout the foetal development together with the correlation observed with the cell cycle indicates a possible function for the DSCR2 gene related to cell proliferation...
  22. ncbi request reprint A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease
    Mario Ezquerra
    Genetics Service, Department of Ciencias Fisiologicas I, University of Barcelona, Institut de Investigacions Biomédiques Agustí Pi i Sunyer, Hospital Clinic, Villaroel 170, 08036 Barcelona, Spain
    Arch Neurol 60:1149-51. 2003
    ..Most cases are due to mutations in the PSEN1 gene, whereas mutations in the APP and PSEN2 genes are rare...
  23. ncbi request reprint Sperm nuclear proteome and its epigenetic potential
    J Castillo
    Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Barcelona, Spain Biochemistry and Molecular Genetics Service, Hospital Clinic, Barcelona, Spain
    Andrology 2:326-38. 2014
    ....
  24. ncbi request reprint Molecular staging of bladder cancer with RT-PCR assay for CK20 in peripheral blood, bone marrow and lymph nodes: comparison with standard histological staging
    M J Ribal
    Department of Urology, Hospital Clinic, Barcelona, Spain
    Anticancer Res 26:411-9. 2006
    ....
  25. ncbi request reprint Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals
    E Margarit
    Hospital Clinic, Institut de Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Biochem Biophys Res Commun 245:370-7. 1998
    ....
  26. ncbi request reprint Direct sequencing of the human protamine P1 gene and application in forensic medicine
    R Queralt
    Faculty of Medicine, University of Barcelona, Spain
    J Forensic Sci 38:1491-501. 1993
    ..Furthermore, the single polymorphic site detected in the human P1 gene could be useful in conjunction with other markers in identification studies in humans...
  27. ncbi request reprint Further extension of the H1 haplotype associated with progressive supranuclear palsy
    Pau Pastor
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós Hospital Clínic, IDIBAPS, Barcelona, Spain
    Mov Disord 17:550-6. 2002
    ..These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP...
  28. ncbi request reprint An increased CAG repeat length in the androgen receptor gene in azoospermic ICSI candidates
    Lourdes Mengual
    Department of Physiology, Human Genetics Research Group, University of Barcelona, Spain
    J Androl 24:279-84. 2003
    ..09 greater risk of being azoospermic. Therefore, in our candidates for ICSI, a direct correlation exists between the CAG repeat length in the exon 1 of the AR gene and the risk of being azoospermic...
  29. ncbi request reprint [Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)]
    Alberto Lleo
    Neurologia, Hospital Clinic, Barcelona, Spain
    Med Clin (Barc) 118:698-700. 2002
    ..The objective of this study was to describe the clinical features and the genetic analysis of a family with autosomal-dominant familial Alzheimer's disease...
  30. ncbi request reprint Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation
    Alberto Lleo
    Neurology Service, Institut d Investigacions Biomediques August Pi i Suyner IDIBAPS, Hospital Clinic, Barcelona, Spain
    Neurosci Lett 318:166-8. 2002
    ..These uncommon single-nucleotide polymorphisms should be always taken into account in the genetic testing of AD. They may well have important implications for genetic counselling in AD...
  31. doi request reprint Spanish Multicenter Normative Studies (NEURONORMA Project): methods and sample characteristics
    Jordi Peña-Casanova
    Section of Behavioral Neurology and Dementias, Hospital del Mar, Barcelona, Spain
    Arch Clin Neuropsychol 24:307-19. 2009
    ..These data may also be of considerable use for comparisons with other normative studies. Limitations of these normative data are also commented on...
  32. doi request reprint Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion
    Rosa Queralt
    Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Am J Med Genet A 146:1335-40. 2008
    ..This is also the first microdeletion of the subtelomeric 1qter region not associated with mental retardation...
  33. doi request reprint A common protamine 1 promoter polymorphism (-190 C->A) correlates with abnormal sperm morphology and increased protamine P1/P2 ratio in infertile patients
    Cristina Gazquez
    Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Casanova 143, 08036, Barcelona, Spain
    J Androl 29:540-8. 2008
    ..006, Mann-Whitney). These findings indicate that the common PRM1 -190 C-->A polymorphism identified is associated with abnormal sperm head morphology and abnormal P1/P2 ratio in infertile patients...
  34. ncbi request reprint Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain
    Alberto Lleo
    Neurology Service, Hospital Clinic, Institut d Investigacions Biomèdiques Agustí Pi i Sunyer, Barcelona, Spain
    Arch Neurol 59:1759-63. 2002
    ..The relative contribution of mutations in the presenilin (PSEN) and amyloid precursor protein genes to autosomal dominant and other early-onset Alzheimer disease (AD) cases is not well established...
  35. ncbi request reprint Influence of beta-2 adrenergic receptor gene polymorphism on the hemodynamic response to propranolol in patients with cirrhosis
    Juan Turnes
    Hepatic Hemodynamic Laboratory, Institut de Malalties Digestives i Metaboliques, Hospital Clinic, IDIBAPS, Barcelona, Spain
    Hepatology 43:34-41. 2006
    ..However, HVPG reduction cannot be predicted from polymorphism analysis. Patients with the Gly16-Glu/Gln27 haplotypes may benefit from the association of hepatic vasodilators to propranolol therapy...
  36. ncbi request reprint Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias
    Jose L Molinuevo
    Unidad Memoria Alzheimer, Institut Clínic de Neurociències, Hospital Clinic i Universitari, Barcelona, Spain
    Am J Alzheimers Dis Other Demen 20:233-8. 2005
    ..The emotional reactions were similar, although the diseases, their phenotype, and mutation characteristics were different...
  37. ncbi request reprint Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy
    Rafael Oliva
    Ann Neurol 55:448-9. 2004
  38. ncbi request reprint Red blood cell phosphosphoglycerate mutase. Description of the first human BB isoenzyme mutation
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain
    Haematologica 88:ECR07. 2003
  39. ncbi request reprint Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy
    Jaume Campdelacreu
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic Universitari, Villarroel 170, 08036 Barcelona, Spain
    Neurosci Lett 340:158-60. 2003
    ..Our results do not support a pathogenic role of the NIK gene in PSP...