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Rafael
Oliva Virgili Professional Address: Genetics Unit, Faculty of Medicine, Casanova 143, 08036
Barcelona, Spain, and Genetics, Hospital Clínic, Villarroel 170, 08036
Barcelona, Spain. E-mail: roliva@ub.edu roliva@clinic.ub.es |
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Positions
Presently (since 2001):
Professor (Profesor Titular), Faculty of Medicine, University of Barcelona
Geneticist at the Hospital Clínic, Barcelona
Previous positions:
Medical Doctor 1984, the Faculty of Medicine, University of Barcelona
PhD Student 1984-1986 at the Molecular Genetics Laboratory
Post-Doctoral 1986-1989 at the Department of Medical Biochemistry, University
of Calgary, Canada.
Staff Scientist 1989-1990 at the Human Genome Center, Lawrence Berkeley
Laboratories, Berkeley, CA, USA.
Associate Professor 1990-2001 at the Faculty of Medicine, University of
Barcelona.
Geneticist 1996-2001 at the Hospital Clínic, Barcelona
Selected
publications
de Llanos M, Ballescà JL, Gázquez C, Margarit E, and Oliva R. High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Human Reproduction 2005, 20:216-220.
Mengual L, Ballesca JL, Ascaso C, Oliva R.
Marked differences in
protamine content and p1/p2 ratios in sperm cells from percoll fractions
between patients and controls. J Androl. 2003 May-Jun;24(3):438-47.
Ramos VC, Vidal-Taboada JM,
Bergoñon S, Egeo A, Fisher EMC, Scartezzini P, and Oliva R (2002)
Characterization of the WDR9 Gene, a Novel Gene in the Down Critical Region-2
of the Human Chromosome 21. Biochim Biophys Acta. 1577, 377-383.
Pastor P, Pastor E, Carnero
C, Vela R, Garcia T, Amer G, Tolosa E, and Oliva R (2001) Familial atypical
supranuclear palsy associated with homozigosity for the delN296 mutation in the
tau gene. Ann Neurol 49, 263-267.
Vidal-Taboada
JM, Sanz S, Egeo A, Scartezzini P, Oliva R (1998) Identification and
characterization of a new gene from human chromosome 21 between markers D21S343
and D21S268 encoding a leucine rich protein. Biochemical and Biophysical
Research Communications 250, 547-554.
Yebra,
Ll., Ballescà, J.L., Vanrell, J.A., Bassas, Ll. and Oliva, R. (1993) Complete
selective absence of protamine P2 in humans. Journal of Biological Chemistry
268, 10553-10557.
Oliva,
R. and Dixon, G.H. (1991)(REVIEW) Protamine genes and the histone to protamine
replacement reaction. Progress in Nucleic Acids Research and Molecular Biology
40, 25-94.
Oliva,
R. and Mezquita, C. (1982) Histone H4 hyperacetylation and rapid turnover
of acetyl groups in transcriptionally
inactive rooster testis spermatids. Nucleic Acids Research 10, 8049-8059.
Chronological
list of all international papers
1 Oliva, R., Vidal, S. and Mezquita, C. (1982)
Cellular content and biosynthesis of
polyamines during rooster spermatogenesis. Biochemical Journal 208,
269-273.
2
Oliva, R. and Mezquita, C. (1982) Histone H4 hyperacetylation and rapid
turnover of acetyl groups in
transcriptionally inactive rooster testis spermatids. Nucleic Acids Research 10, 8049-8059.
3
Oliva, R. and Mezquita C. (1986) Marked differences in the ability of distinct
protamines to disassemble nucleosomal
core particles "in vitro". Biochemistry 25, 6508-6511.
4
Oliva, R., Bazett-Jones, D., Mezquita, C. and Dixon, G.H. (1987) Factors
affecting nucleosome disassemble by
protamines "in vitro". Histone hyperacetylation and chromatin structure, time dependence, and the
size of the sperm nuclear proteins.
Journal of Biological Chemistry 262, 17016-17025.
5
Mezquita, J., Oliva, R. and Mezquita, C. (1987) New ubiquitin mRNA expressed
during chicken spermiogenesis. Nucleic
Acids Research 15, 9604.
6
Oliva, R., Mezquita, J., Mezquita, C. and Dixon, G.H. (1988) Haploid expression
of the rooster protamine mRNA in the
postmeiotic stages of spermatogenesis. Developmental Biology
125, 332-340.
7
Oliva, R. and Dixon, G.H. (1989) Chicken protamine genes are intronless:
The complete nucleotide sequence and organization of the
two loci. Journal of Biological Chemistry
264, 12472- 12481.
8
Oliva, R., Goren, R. and Dixon, G.H. (1990) Complete Quail (Coturnix Japónica)
protamine cDNA sequence and the function and evolution of vertebrate
protamines. J. Biol. Chemistry. 264, 17627-17630
9
Oliva, R. and Dixon, G.H. (1990) Vertebrate protamine gene evolution I.
Sequence alignments. J. Molecular
Evolution 30, 333-346.
10
Oliva, R., Bazett-Jones, D., Locklear, B. and Dixon, G.H. (1990) Histone
Hyperacetylation can induce unfolding of the nucleosomal core particles. Nucleic
Acids Research 188, 2739-2747.
11
Oliva, R. and Dixon, G.H. (1991) Expression and Processing of the Rooster Protamine mRNA. Annals of the New
York Academy of Sciences 637, 289-299.
12
Oliva, R. and Dixon, G.H. (1991)(REVIEW) Protamine genes and the histone to
protamine replacement reaction. Progress in Nucleic Acids Research and
Molecular Biology 40, 25-94.
13
Oliva, R., Lawrence, S.K., Wu, Y. and Smith, C.L. (1991)(REVIEW) Human
Chromosomes: Molecular Studies. En "Encyclopedia of Human Biology" vol.
2, 475-488. Academic Press. San Diego. California.
14
Queralt, R. and Oliva, R. (1991) Protamine 1 gene sequence of the primate
Saguinus imperator isolated with PCR using consensus oligonucleotides. Nucleic
Acids Research 19, 5786.
15
Adroer, R., Queralt, R., Ballabriga, J. and Oliva, R. (1992) Nucleotide
sequence from the whale Orcinus orca predicts a unique N-terminal amino-acid
motif. Nucleic Acids Research 20, 609.
16
Adroer,R., Chartier Harlin,M.C., Crawford,F., Oliva R. (1992) Improved direct
sequencing of Alzheimer's amyloid protein precursor (APP) exons 16 and 17.
Neuroscience Letters 141, 69-71.
17
Ichikawa, H., Shimizu, K., Saito, A., Wang, D., Oliva, R., Kobayashi, H.,
Kaneko, Y., Miyoshi, H., Smith, C.L., Cantor, C.R. and Ohki, M. (1992) Long-range
restriction mapping of the proximal long arm of human chromosome 21 with Not I
linking clones. Proceedings of the National Academy of Sciences USA, 89, 23-27.
18
Yebra, Ll. and Oliva, R. (1993) Rapid analysis of sperm nuclear proteins.
Analytical Biochemistry 209, 201-203.
19
Queralt, R., Fàbregues-Boixar, O., Adroer, R., Gené, M., Gómez Catalán, J., Huguet, E. and Oliva, R. (1993)
Direct sequencing of the human protamine P1 gene and application in forensic
medicine. Journal of Forensic Sciences, 38, 1491-1501.
20
Queralt, R. and Oliva, R. (1993) Identification of conserved potential
regulatory sequences of the protamine-encoding P1 genes from ten different
mammals. Gene 133, 197-204.
21
Retief,J.D., Winkfein,R.J., Dixon,G.H., Adroer,R., Queralt,R., Ballabriga,J.,
Oliva, R. (1993) Evolution of protamine P1 genes in primates. Journal of
Molecular Evolution 37, 426-434.
22
Adroer, R., López-Acedo, C., Oliva, R., Hardy, J. and Fidani, L. (1993) A novel
silent variant at codon 711 and a variant at codon 708 of the APP sequence
detected in Spanish Alzheimer and control cases. Neuroscience Letters 150,
33-34.
23
Yebra, Ll., Ballescà, J.L., Vanrell, J.A., Bassas, Ll. and Oliva, R. (1993)
Complete selective absence of protamine P2 in humans. Journal of Biological
Chemistry 268, 10553-10557.
24
Smith, C.L., Klco, S., Zhang, T., Fang, H., Oliva, R., Wang, D., Bremer, M.,
and Lawrence, S. (1993) Analysis of megabase DNA using pulsed field gel
electrophoresis techniques. In: Adolph, K.E., ed. Methods in Molecular
Genetics. Gene and Chromosome Analysis, part B, San Diego: Academic Press. pp
155-194.
25
Queralt, R.,Adroer, R., Oliva, R.,
Retief, J., Winkfein, R.J. and Dixon, G.H. (1995) Evolution of Protamine 1
genes in mammals. Journal of Molecular Evolution 40, 601-607.
26
Queralt, R. and Oliva, R. (1995) Demonstration of trans-acting factors binding
to the promoter region of the testis-specific rat protamine P1 gene.
Biochemical and Biophysical Research Communications 208, 802-812.
27
Adroer, R., Santacruz, P., Blesa, R., Secundí López-Pousa and Oliva, R. (1995)
Apolipoprotein E4 allele (e4) frequency in Spanish Alzheimer and control cases.
Neuroscience Letters 189, 182-186.
28 Oliva, R. (1995) Sequence, evolution and transcriptional regulation of mammalian P1 type protamines. In: “Advances in spermatozoal phylogeny and taxonomy”, Jamieson BGM, Ausió J, Justine JL (Eds.) Mem. Mus. natn. Hist. Nat. 166, 537-548.
Oliva, R. (1996) Genoma Humano. (224 páginas, 110 ilustraciones), Masson S.A.
29
Blesa, R., Adroer, R., Santacruz, P., Ascaso, C., Tolosa, E. and Oliva, R.
(1996) High apolipoprotein E e4 allele frequency in age related memory decline
(ARMD) Annals of Neurology 39, 548-551.
30
Adroer R, López-Acedo C, Oliva R (1997) Conserved elements in the 5’
regulatory region of the amyloid precursor protein gene in primates.
Neuroscience Letters 226, 203-206.
31
Ezquerra M, Blesa R, Tolosa E, López-Pousa S, Aquilar M, Peña J, Van Broeckhoven
C, Ballesta F, Oliva R (1997) The genotype 2/2 of the presenilin-1 polymorphism
is decreased in Spanish early-onset Alzheimer’s disease. Neuroscience
Letters 227, 201-204.
32
Gené M, Moreno P, Ezquerra M, Prat A, Huguet E, Adroer R, Oliva R (1997) Low
apolipoprotein E e4 allele
frequency in the population of Catalonia (Spain) determined by PCR-RFLP and
laser fluorescent sequencer. European Journal of Epidemiology 13, 841-843.
33
Muñoz E, Oliva R, Obach V, Martí MJ, Pastor P, Ballesta F, Tolosa E (1997) Identification
of Spanish familial Parkinson’s disease and screening for the Ala53Thr
mutation of the a-synuclein
gene in early onset patients. Neuroscience Letters 235, 57-60.
34
Vidal-Taboada J, Bergoñón S, Scartezzini P, Egeo A, Nizetic D, Oliva R (1997)
High-resolution physical mapping and identification of potentially regulatory
sequences of the human SH3BGR gene located in the Down syndrome chromosomal
region. Biochemical and Biophysical Research Communications 241, 321-326.
35
Ezquerra M, Blesa R, Tolosa E, Ballesta F, Oliva R (1998) a-antichymotripsin
gene polymorphism and risk for Alzheimer’s disease in the Spanish
population. Neuroscience Letters 240, 107-109.
36
Aldudo J, Bullido MJ, Arbizu T, Oliva R, Valdivieso F (1998) Identification of
a novel mutation (Leu282Arg) of the presenilin 1 gene. Neuroscience
Letters 240, 174-176.
37
Egeo A, Mazzocco M, Sotgia F, Arrigo P, Oliva R, Bergoñón S, Nizetic D,
Rasore-Quartino A, Scartezzini P (1998) Identification and characterization of
a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein.
Human Genetics 102, 289-293.
38
Yebra Ll, Ballescà JL, Vanrell JA, Corzett M, Balhorn R, Oliva R (1998)
Detection of P2 precursors in the sperm cells of infertile patients who have
reduced P2 levels. Fertility and Sterility 69, 755-9.
39
Oliva R, Tolosa E, Ezquera M, Molinuevo JL,
Valldeoriola F, Burguera J,
Calopa M, Ballesta F (1998) Signifficant changes in the t A0 and A3
alleles in Progressive Supranuclear Palsy and improved genotyping by silver
detection. Archives of Neurology 55, 1122-1124.
40
Vidal-Taboada J, Bergoñón S, Sánchez M, López-Acedo C, Groet J, Nizetic D, Egeo
A, Scartezzini P, Katsanis N, Fisher EMC, Delabar JM, Oliva R (1998)
High-resolution physical map and identification of transcribed sequences in the
Down syndrome region-2. Biochemical and Biophysical Research Communications
243, 572-578.
41
Margarit E, Soler A, Carrió A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta
F (1998) Molecular, cytogenetic and clinical characterization of six XX males
including one prenatal diagnosis. Journal of Medical Genetics 35, 727-730.
42
Margarit E, Guillén A, Rebordosa C, Vidal-Taboada J, Bergoñón S, Sánchez M,
Ballesta F, Oliva R (1998) Identification of conserved potentially regulatory sequences
of the SRY gene from 10 different species of mammals. Biochemical and
Biophysical Research Communications 243, 572-578.
43
Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J,,
Ascaso C, Oliva R (1998) Apolipoprotein E4 alleles and meiotic origin of
non-disjunction in Down syndrome children and in their corresponding fathers
and mothers. Neuroscience Letters 248, 1-4.
44
Oliva R, Margarit E, Ballescà JL, Carrió A, Sánchez A, Milà M, Ballesta F,
Alvarez-Vijande JR (1998) Prevalence of Y chromosome microdeletions in
consecutive oligospermic and azoospermic ICSI candidates. Fertility and
Sterility 70, 506-510.
45
Egeo A, Mazzocco M, Arrigo P, Vidal-Taboada JM, Oliva R, Pirola B, Giglio S,
Rasore-Quartino A, Scartezzini P (1998) Identification and characterization of
a new human gene encoding a small protein with high homology to the
proline-rich region of the SH3BGR gene Biochem Biophys Res Commun 247, 302-306
46
Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R (1998) Prevalence
of the HFE Cys282Tyr and His63Asp gene mutations in Spanish patients with
hereditary hemocromatosis and in controls. J. Hepatol 29, 725-728.
47
Vidal-Taboada JM, Sanz S, Egeo A, Scartezzini P, Oliva R (1998) Identification
and characterization of a new gene from human chromosome 21 between markers
D21S343 and D21S268 encoding a leucine rich protein. Biochemical and
Biophysical Research Communications 250, 547-554.
48
Adroer R, Oliva R (1998) Nucleosome positioning in the rat protamine 1 gene in
vivo and in vitro. Biochim Biophys Acta 1442, 252-260.
49
Bench G, Corzett MH, Yebra Ll, Oliva R, Balhorn R (1998) Protein and DNA
contents in sperm cells from an infertile human male possessing protamine
defects that vary over time. Mol Reprod Dev. 50, 345-353.
50
Lopez LO, Lopez-Pousa S, Kamboth MI, Adroer R, Oliva R, Lozano-Gallego M,
Becker JT, DeKosky ST (1998) Apolipoprotein E polymorphism in Alzheimer’s
disease: a comparative study of two research populations from Spain and the
United States. Eur Neurol 39, 229-233.
51
Sánchez M, Queralt R, Bruguera M, Rodés J, Oliva R (1998) Cloning, sequencing
and characterisation of the rat hereditary hemochromatosis promoter. Comparison
of the human, mouse and rat HFE promoter regions. Gene 225, 77-87.
52 Muñoz E, Obach V, Oliva R, Marti MJ,
Ezquerra M, Pastor P, Ballesta F, Tolosa E (1999) a1-antichymotripsin gene
polymorphism and the susceptibility to parkinson’s disease. Neurology 52,
297-301.
53
Ezquerra M, Carnero C, Blesa R, Ballesta F, Oliva R (1999) A novel presenilin 1
mutation (Ser169Pro) associated with early onset Alzheimer’s disease and
myoclonic seizures. Neurology 52, 566-570.
54
Ballesta F, Queralt R, Gómez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva
R (1999) Parental origin and meiotic stage of non-disjunction in 139 cases of
trisomy 21. Ann Genet 42, 11-15.
55
Pastor P, Muñoz E, Obach V, Marti MJ, Blesa R, Oliva R, Tolosa E (1999) Dopamine
receptor D2 intronic polymorphism in patients with Parkinson’s disease.
Neuroscience Letters 273, 151-154.
56
Gudayol M, Vidal-Taboada J, Usac EF, Costa A, Cristóbal P, dell’Anna
Carmen, Oliva R, Gomis R (1999) Detection of a new variant of the mitochondrial
glycerol-3-phosphate dehydrogenase gene in Spanish type 2 DM patients. Biochem
Biophys Res Comm 263, 439-445.
57
Ezquerra M, Pastor P, Valldeoriola F, Molinuevo JL, Blesa R, Tolosa E, Oliva R
(1999) Identification of a novel polymorphism in the promoter region of the tau
gene highly associated to progressive supranuclear palsy in humans.
Neuroscience Letters 275, 183-186.
58
Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F (2000) SRY gene
transferred to the long arm of the X chromosome in a Y-positive XX true
hermaphrodite. American Journal of Medical Genetics, 90, 25-28.
59
Arrufat FJ, Diaz R, Queralt R, Navarro V, Marcos T, Massana G, Massana J,
Ballesta F, Oliva R (2000) Analysis of the polymorphic (GT)n repeat at the
dopamine b-hydroxylase
gene in Spanish patients affected by schizophrenia. American Journal of Medical
Genetics (Neuropsychiatric Genetics), 96, 88-92.
60
Pastor P, Ezquerra M, Muñoz E, Martí MJ, Blesa R, Tolosa E, Oliva R (2000) Significant
association between the tau gene A0/A0 genotype and Parkinson’s disease.
Annals of Neurology 47, 242-245.
61
Ezquerra M, Carnero C, Blesa R, Oliva R (2000) A novel presenilin 1 mutation (Leu166Arg)
associated with early onset Alzheimer’s disease. Archives of Neurology,
57, 485-488.
62
Vidal-Taboada JM, Lu A, Piqué M, Pons G, Gil J, Oliva R (2000)Down syndrome
critical region gene 2 (DSCR2): Expression during mouse development and in
human cell lines indicates a function related to cell proliferation. Biochem
Biophys Res Comm. 272, 156-163.
63
Obach V, Arroyo S, Santamaria J, Grinberg D, Oliva R (2000) No evidence of
linkage to 6p markers in Spanish families with Juvenile Myoclonic Epilepsy.
Neuroscience Letters. 286, 213-217.
64
Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J and Oliva
R (2000) Hereditary Hemochromatosis in Spain”. Genetic Testing, 4,
171-176.
65
Molinuevo JL, Valldeoriola F, Alegret M, Oliva R, Tolosa E (2000) Progressive
supranuclear palsy: earlier age of onset in patients with the tau protein A0/A0
genotype. J. Neurol, 247, 206-208.
66
Muñoz E, Pastor P, Martí F, Oliva R, Tolosa E (2000) A new mutation in
the parkin gene in a patient with atypical autosomal recessive juvenile
parkinsonism. Neuroscience Letters, 289,
66-68.
67
Vila N, Obach V, Revilla M, Oliva R, Chamorro A (2000)
alpha-Antichymotripsin gene polymorphism in patients with stroke. Stroke 31,
2103-2105.
68
Paracchini S, Stuppia L, Gatta V, Palka G, Moro E, Foresta C, Mengual L,
Ballesca JL, Oliva R, Kremer JAM, van Golde RJT, Tuerlings JAM, Hargreave T,
Ross A, Cooke H, Huellen K, Vogt P, Tyler-Smith C. (2000) Y-chromosomal DNA
haplotypes in infertile European males carriyng Y-microdeletions. Journal of
Endocrinological Investigation 23,
69 Pastor P, Pastor E, Carnero C, Vela R, Garcia T, Amer G, Tolosa E, and Oliva R (2001) Familial atypical supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 49, 263-267.
70 Sánchez M, Bruguera
M, Rodés J and Oliva R (2001) Complete characterization of the 3' region of the
human and mouse hereditary hemochromatosis HFE gene and detection of novel
splicing forms. Blood Cells, Molecules, and Diseases 27, 35-43.
71 Queralt R, Ezquerra
M, Castellví M, Lleó A, Blesa R, Oliva R (2001) Detection of the presenilin 1 gene
mutation (Met139Thr) in early-onset familial Alzheimer disease in Spain.
Neuroscience Letters 299, 239-241.
72 Pastor P, Muñoz E,
Ezquerra M, Obach V, Martí MJ, Valldeoriola F, Tolosa E, Oliva R (2001)
Analysis of the coding and 5' flanking regions of the a-synuclein gene in
patients with Parkinson's disease. Movement Disorders 16, 1115-1119.
73 Lleó A, Blesa R,
Gendre J, Castellví M, Pastor P, Queralt R, Oliva R. (2001) A novel presenilin
2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.
Neurology 2001 57: 1926-1928.
74 Queralt, R; Ezquerra,
M; Lleó, A; Castellví, M; Gelpí, J; Ferrer, I; Acarín, N; Pasarín, L; Blesa, R;
Oliva, R. (2002) A novel mutation (V89L) in the presenilin 1 gene in a family
with early onset Alzheimer's disease and marked behavioural disturbances,
Journal of Neurology, Neurosurgery, and Psychiatry 72, 266-269.
75 Lleó A, Castellví M,
Blesa R, Oliva R (2002) Uncommon polymorphism in the presenilin genes in human
familial Alzheimer's disease: not to be mistaken with a pathogenic mutation,
Neuroscience Letters 318, 166-168.
76 Lleó A, Angelopoulos
C, Bufill E, Pastor-Rubio P, Villa M, Blesa R, Oliva R. (2002) Transferrin C2
allele, haemochromatosis gene mutations and risk for Alzheimer's disease. J
Neurol Neurosurg Psychiatry 2002, 72, 820-821.
77 Pastor P, Ezquerra M,
Tolosa E, Muñoz E, Marti MJ, Valldeoriola F, Molinuevo JL, Calopa M, Oliva R
(2002) Further extension of the H1 haplotype associated with progressive
supranuclear palsy. Movement Disorders 17, 550-556.
78 Ramos VC,
Vidal-Taboada JM, Bergoñon S, Egeo A, Fisher EMC, Scartezzini P, and Oliva R
(2002) Characterization of the WDR9 Gene, a Novel Gene in the Down Critical
Region-2 of the Human Chromosome 21. Biochim Biophys Acta. 1577, 377-383.
79 Lleó A, Blesa R,
Queralt R, Ezquerra M, Molinuevo JL, Peña-Casanova J, Rojo A, Oliva R (2002)
Frequency of mutations in the Presenilin and Amyloid Precursor Protein Genes in
Early-Onset Alzheimer's Disease in Spain. Arch Neurol 59, 1759-1763.
80 Muñoz E, Toosa E, Pastor
P, Martí MJ, Valdeoriola F, Campdelacreu J, Oliva R (2002) Relative high
frequency of the c.255delA parkin gene mutation in Spanish patients with
familial autosomal recessive parkinsonism. J Neurol Neurosurg Psychiatry 73,
582-584.
81 Ferrer I, Pastor P,
Rey MJ, Muñoz E, Puig B, Pastor E, Oliva R, Tolosa E (2003) Tau phosphorylation
and kinase activation in familial tauopathy linked to deln296 mutation.
Neuropathol Appl Neurol. 29, 23-34.
82 Campdelacreu J, Ezquerra M, Munoz E, Oliva R, Tolosa E. Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy. Neurosci Lett. 2003 Apr 10;340(2):158-60.
83 Sanchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, Oliva R. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol. 2003 Jun;38(6):745-50.
84 Repiso A, Perez de la Ossa P, Aviles X, Oliva B, Junca J, Oliva R,
Garcia E, Vives-Corrons JL, Carreras J, Climent F. Red blood cell
phosphosphoglycerate mutase. Description
of the first human BB isoenzyme mutation.
Haematologica. 2003 Mar;88(3):ECR07.
85 Mengual L, Oriola J,
Ascaso C, Ballescà JL, Oliva R (2003) An increased CAG repeat length in the
androgen receptor gene in azoospermic ICSI candidates. Journal of Andrology,
24, 279-284.
86 Mengual L, Ballesca
JL, Ascaso C, Oliva R. Marked
differences in protamine content and p1/p2 ratios in sperm cells from percoll
fractions between patients and controls. J Androl. 2003 May-Jun;24(3):438-47.
87 Ezquerra M, Lleó A,
Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R
(2003) A novel mutation in the PSEN2 gene (T430M) associated with variable
expression in a family with early-onset Alzheimer's disease. Arch Neurol.
60:1149-51.
88 Ezquerra M,
Campdelacreu J, Munoz E, Oliva R, Tolosa E. Sequence analysis of tau
3'untranslated region and saitohin gene in sporadic progressive supranuclear
palsy. J Neurol Neurosurg Psychiatry. 2004. 75:155-7.
89 Oliva R, Pastor P.
Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear
palsy. Ann Neurol. 2004 Mar;55(3):448-9.
90 Oliva R, Novials A,
Sanchez M, Villa M, Ingelmo M, Recasens M, Ascaso C, Bruguera M, Gomis R. The
HFE Gene Is Associated to an Earlier Age of Onset and to the Presence of
Diabetic Nephropathy in Diabetes Mellitus Type 2. Endocrine. 2004
Jul;24(2):111-4.
91 de Llanos M, Ballescà
JL, Gázquez C, Margarit E, and Oliva R. High frequency of gr/gr chromosome Y
deletions in consecutive oligospermic ICSI candidates. Human
Reproduction 2004, 20:216-220.
92 Turnes J,
Hernandez-Guerra M, Abraldes JG, Ratti L, Oliva R, Garcia-Pagan JC, Bosch J (2006) Influence of beta-2 adrenergic receptor gene
polymorphism on the hemodynamic response to propranolol in patients with
cirrhosis. Hepatology 43, 34-41.
93 Oliva R (2006) Protamines and male infertility. Hum
Reprod Update. 12(4):417-435.
94 Ribal MJ, Mengual L, Marin M, Algaba F, Ars E,
Fernandez PL, Oliva R, Villavicencio H, Alcaraz A. (2006) Molecular staging of
bladder cancer with RT-PCR assay for CK20 in peripheral blood, bone marrow and
lymph nodes: comparison with standard histological staging. Anticancer Res 26,
411-419.
95 Torregrosa N, Domínguez-Fandos D, Camejo MI,
Shirley CR, Meistrich ML, Ballescà JL, Oliva R (2006) Protamine 2 (P2)
precursors, P1/P2 ratio, DNA integrity and other sperm parameters in infertile
patients. Hum Reprod. 21, 2084-2089.
96 Martínez-Heredia J, Estanyol JM, Ballescà JL and
Oliva R (2006) Proteomic identification of human sperm proteins. Proteomics 6,
4356-4369.
97 de Mateo S, Martínez-Heredia J, Estanyol JM,
Domíguez-Fandos D, Vidal-Taboada JM, Ballescà JL and Oliva R (2007) Marked
correlations in protein expression identified by proteomic analysis of human
spermatozoa. Proteomics 2007;7:4264-77.
98 Domínguez-Fandos D, Camejo MI, Ballescà JL, Oliva R
(2007) Human Sperm DNA Fragmentation: Correlation of TUNEL Results as Assessed
by Flow Cytometry and Optical Microscopy. Cytometry A. 2007;71:1011-8.
99 Martínez-Heredia J, de Mateo S, Vidal-Taboada JM,
Estanyol JM, Ballescà JL and Oliva R (2007) Proteomic expression differences
between asthenozoospermic and normozoospermic sperm samples. Human Reproduction
(in press).
100 de Mateo S, Gázquez C, Guimerà M, Balasch J,
Meistrich ML, Ballescà JL, Oliva R (2008) Protamine 2 precursors (pre-P2),
protamine 1 to protamine 2 ratio (P1/P2), and assisted reproduction outcome.
Fertility and Sterility (in press).
101 Oliva R, Martínez-Heredia J, Estanyol JM (2008) Proteomics
in the Study of the Sperm Cell Composition, Differentiation and Function.
Systems Biology in Reproductive Medicine. In Press.
102 Mathivanan S, Ahmed M, Ahn NG, Alexandre H,
Amanchy R, Andrews PC, Bader JS, Balgley BM, Bantscheff M, Bennett KL, Björling
E, Blagoev B, Bose R, Brahmachari SK, Burlingame AS, Bustelo XR, Cagney G,
Cantin GT, Cardasis HL, Celis JE, Chaerkady R, Chu F, Cole PA, Costello CE,
Cotter RJ, Crockett D, DeLany JP, De Marzo AM, DeSouza LV, Deutsch EW,
Dransfield E, Drewes G, Droit A, Dunn MJ, Elenitoba-Johnson K, Ewing RM, Van
Eyk J, Faca V, Falkner J, Fang X, Fenselau C, Figeys D, Gagné P, Gelfi C,
Gevaert K, Gimble JM, Gnad F, Goel R, Gromov P, Hanash SM, Hancock WS, Harsha
HC, Hart G, Hays F, He F, Hebbar P, Helsens K, Hermeking H, Hide W, Hjernø K,
Hochstrasser DF, Hofmann O, Horn DM, Hruban RH, Ibarrola N, James P, Jensen ON,
Jensen PH, Jung P, Kandasamy K, Kheterpal I, Kikuno RF, Korf U, Körner R,
Kuster B, Kwon MS, Lee HJ, Lee YJ, Lefevre M, Lehvaslaiho M, Lescuyer P,
Levander F, Lim MS, Löbke C, Loo JA, Mann M, Martens L, Martinez-Heredia J,
McComb M, McRedmond J, Mehrle A, Menon R, Miller CA, Mischak H, Mohan SS,
Mohmood R, Molina H, Moran MF, Morgan JD, Moritz R, Morzel M, Muddiman DC,
Nalli A, Navarro JD, Neubert TA, Ohara O, Oliva R, Omenn GS, Oyama M, Paik YK,
Pennington K, Pepperkok R, Periaswamy B, Petricoin EF, Poirier GG, Prasad TS,
Purvine SO, Rahiman BA, Ramachandran P, Ramachandra YL, Rice RH, Rick J,
Ronnholm RH, Salonen J, Sanchez JC, Sayd T, Seshi B, Shankari K, Sheng SJ, Shetty
V, Shivakumar K, Simpson RJ, Sirdeshmukh R, Siu KW, Smith JC, Smith RD, States
DJ, Sugano S, Sullivan M, Superti-Furga G, Takatalo M, Thongboonkerd V,
Trinidad JC, Uhlen M, Vandekerckhove J, Vasilescu J, Veenstra TD, Vidal-Taboada
JM, Vihinen M, Wait R, Wang X, Wiemann S, Wu B, Xu T, Yates JR, Zhong J, Zhou
M, Zhu Y, Zurbig P, Pandey A. (2008) Human Proteinpedia enables sharing of
human protein data. Nat Biotechnol. 26:164-167.
103 Gázquez C, Oriola J, de Mateo S, Vidal-Taboada JM, Ballescà JL and Oliva R
(2008) A common protamine 1 promoter polymorphism (-190 C to A) correlates with
abnormal sperm morphology and increased protamine p1/p2 ratio in infertile
patients. J Androl, 29:540-8.
104 Queralt R, Madrigal I, Vallecillos MA, Morales C,
Ballescá JL, Oliva R, Soler A, Sánchez A, and Margarit E (2008) Atypical XX
Male with the SRY Gene at Chromosome 1 and 1qter Microdeletion. American
Journal of Medical Genetics 146(10):1335-40.
105 Krausz C, Giachini C, Xue Y, O'Bryan MK, Gromoll J
, Rajpert-de Meyts E, Oliva R, Aknin-Seifer I, Erdei E, Jorgensen N, Simoni M,
Ballescà JL, Levy R, Balercia G, Piomboni P, Nieschlag E, Forti G, McLachlan R,
Tyler-Smith C. Phenotypic variation within European carriers of the
Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J Med
Genet, in press.
Electronic mail address for Rafael Oliva
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