X Estivill

Summary

Affiliation: Hospital Duran i Reynals
Country: Spain

Publications

  1. ncbi Connexin-26 mutations in sporadic and inherited sensorineural deafness
    X Estivill
    Department de Genetica, Centre de Genètica Mèdica i Molecular, Hospital Duran i Reynals, L Hospitalet, Barcelona, Catalonia, Spain
    Lancet 351:394-8. 1998
  2. ncbi A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    Nuria Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 19:458. 2002
  3. pmc Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
    X Estivill
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Barcelona, Spain
    Am J Hum Genet 62:27-35. 1998
  4. ncbi Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 20:77-8. 2002
  5. ncbi ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis
    S Larriba
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 9:860-6. 2001
  6. ncbi Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations
    E Serra
    , Hospital Duran i Reynals, Barcelona, Spain
    Hum Genet 108:416-29. 2001
  7. pmc Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
    E Ars
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    J Med Genet 40:e82. 2003
  8. ncbi The human intersectin genes and their spliced variants are differentially expressed
    C Pucharcos
    Down Syndrome Research Group, Medical and Molecular Genetics Center IRO, Gran Via s n Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Biochim Biophys Acta 1521:1-11. 2001
  9. ncbi Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
    M A Font
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, E 08907 Barcelona, Spain
    Hum Mol Genet 10:305-16. 2001
  10. ncbi Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis
    C Casas
    Down Syndrome Research Group, Medical and Molecular Genetics Center IRO, Avia de Castelldefels, Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Mech Dev 101:289-92. 2001

Detail Information

Publications123 found, 100 shown here

  1. ncbi Connexin-26 mutations in sporadic and inherited sensorineural deafness
    X Estivill
    Department de Genetica, Centre de Genètica Mèdica i Molecular, Hospital Duran i Reynals, L Hospitalet, Barcelona, Catalonia, Spain
    Lancet 351:394-8. 1998
    ..We investigated mutations in the GJB2 gene in familial and sporadic cases of deafness...
  2. ncbi A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    Nuria Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 19:458. 2002
    ..These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment...
  3. pmc Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
    X Estivill
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Barcelona, Spain
    Am J Hum Genet 62:27-35. 1998
    ....
  4. ncbi Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 20:77-8. 2002
    ..We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5)...
  5. ncbi ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis
    S Larriba
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 9:860-6. 2001
    ....
  6. ncbi Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations
    E Serra
    , Hospital Duran i Reynals, Barcelona, Spain
    Hum Genet 108:416-29. 2001
    ..Finally, we have noticed that the culture of neurofibromas and their fibroblast clearance facilitates LOH detection in cases in which it is difficult to determine...
  7. pmc Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
    E Ars
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    J Med Genet 40:e82. 2003
  8. ncbi The human intersectin genes and their spliced variants are differentially expressed
    C Pucharcos
    Down Syndrome Research Group, Medical and Molecular Genetics Center IRO, Gran Via s n Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Biochim Biophys Acta 1521:1-11. 2001
    ..Their differential expression is made more evident when the expression of both intersectins is studied by in situ hybridization in mouse brain...
  9. ncbi Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
    M A Font
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, E 08907 Barcelona, Spain
    Hum Mol Genet 10:305-16. 2001
    ..These data provide the first genotype-phenotype correlation in non-Type I cystinuria, and show that a mild urinary phenotype in heterozygotes may associate with mutations with significant residual transport activity...
  10. ncbi Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis
    C Casas
    Down Syndrome Research Group, Medical and Molecular Genetics Center IRO, Avia de Castelldefels, Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Mech Dev 101:289-92. 2001
    ..This expression pattern indicated that Dscr1 is a developmentally regulated gene involved in neurogenesis and cardiogenesis and suggests that it may contribute to the alterations observed in these organ systems in DS patients...
  11. ncbi Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 18:548. 2001
    ..We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5)...
  12. ncbi Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index
    M Ribases
    Genes and Disease Program, Center for Genomic Regulation, Barcelona, Catalonia, Spain
    Mol Psychiatry 10:851-60. 2005
    ..003) and minimum body mass index (minBMI; P<0.001). Our data support a contribution of NTRK2 to the genetic susceptibility of ED, mainly ANP, and ED-related phenotypic traits, such as Harm avoidance and minBMI...
  13. ncbi Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b
    L Carim
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Cytogenet Cell Genet 89:92-5. 2000
    ..Enriched expression of VPS33B was observed in testis. VPS33B was positioned at chromosome 15q26.1 by radiation hybrid mapping...
  14. ncbi DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways
    J J Fuentes
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Hum Mol Genet 9:1681-90. 2000
    ..Together, these results suggest that members of this newly described family of human proteins are endogenous regulators of calcineurin-mediated signaling pathways and as such, they may be involved in many physiological processes...
  15. ncbi HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression
    L Sumoy
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, Barcelona, Spain
    Cytogenet Cell Genet 88:62-7. 2000
    ..HMG20A maps to chromosome 15q24 (near D15S1227) and HMG20B to 19p13.3 (between D19S209 and D19S216). The HMG20 genes define a distinct class of mammalian HMG box genes...
  16. ncbi Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
    M Gomez-Zaera
    Centre de Genètica Mèdica i Molecular IRO, Barcelona, Spain
    Mol Genet Metab 72:72-81. 2001
    ..No correlation could be established between WFS1 gene mutations and specific point mutations or rearrangements in mtDNA. We would suggest first screening for the 16-bp insertion in exon 4 when a new Spanish WS case is reported...
  17. ncbi Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia
    J M Mercader
    Genes and Disease Program, Center for Genomic Regulation, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain
    Genes Brain Behav 6:706-16. 2007
    ....
  18. ncbi PALML, a novel paralemmin-related gene mapping on human chromosome 1p21
    N Andreu
    Institut de Recerca Oncològica IRO, Departament de Genetica Molecular, Hospital Duran i Reynals, Av Gran Via s n Km 2, 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Gene 278:33-40. 2001
    ..Based on its resemblance to paralemmin and AKAP2, PALML is hypothesized to be involved in regulating intracellular signaling and membrane-cytoskeletal interactions...
  19. ncbi A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
    M Gratacos
    Centre de Genètica Mèdica i Molecular IRO, L Hospitalet de Llobregat, E 08907, Catalonia, Barcelona, Spain
    Cell 106:367-79. 2001
    ..We propose that DUP25, which is present in 7% control subjects, is a susceptibility factor for a clinical phenotype that includes panic and phobic disorders and joint laxity...
  20. ncbi A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
    M Mila
    Servei de Genètica, Hospital Clinic, Barcelona, Spain
    Hum Genet 98:419-21. 1996
    ..The index case illustrates that the possibility of both parents being carriers of the fragile X syndrome premutation should be considered in consanguineous families or in small communities...
  21. doi Joint effect of obesity and TNFA variability on asthma: two international cohort studies
    F Castro-Giner
    Centre for Research in Environmental Epidemiology, Municipal Institute of Medical Research IMIM Hospitaldel Mar, Barcelona, Spain
    Eur Respir J 33:1003-9. 2009
    ..1, 95% CI 2.5-14.4; OR for G/G genotype 1.7, 95% CI 0.8-3.3). The present findings provide, for the first time, evidence for a complex pattern of interaction between obesity, a pro-inflammatory genetic factor and asthma...
  22. ncbi Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
    R Rabionet
    Deafness Research Group, Medical and Molecular Genetics Center, CGMM IRO, Barcelona, Spain
    Hum Genet 106:40-4. 2000
    ....
  23. ncbi A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase
    A Solans
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona, Spain
    Cytogenet Cell Genet 89:177-84. 2000
    ..BACE2 could be involved in the Alzheimer-like neuropathology of Down syndrome, as well as in Alzheimer's disease linked to chromosome 21 but not showing mutations in APP...
  24. doi Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2
    G Azkona
    Genes and Disease Program, Center for Genomic Regulation CRG, Barcelona Biomedical Research Park PRBB, E 08003 Barcelona, Catalonia, Spain
    Genes Brain Behav 9:160-72. 2010
    ..However, TgBACE2 animals showed increased anxiety-like behaviour along with increased numbers of noradrenergic neurones in locus coeruleus, thus suggesting an unexpected role of BACE2 overexpression...
  25. ncbi Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1-->q21.2
    L Carim
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Cytogenet Cell Genet 88:330-2. 2000
    ..EST database searching revealed the presence of C15orf3 homologs in rat and mouse. C15orf3 was mapped to chromosome 15q21.1-->q21.2 using the Stanford G3 radiation hybrid panel...
  26. ncbi Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
    J Mallolas
    , , Barcelona, Spain
    J Mol Med 78:721-4. 2001
    ..We stress the relevance of polymorphic marker haplotype analysis and the importance of family study in genetic recessive diseases, such as phenylketonuria, to avoid incorrect diagnosis and genetic counseling...
  27. ncbi Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12
    L Carim-Todd
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Cytogenet Cell Genet 90:255-60. 2000
    ..A partial conservation of synteny with mouse chromosomes 7, 8 and 9 is also observed. The corresponding orthologous genes in mouse of human TM6SF1 and TM6SF2 show a high degree of amino acid sequence conservation...
  28. ncbi A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders
    M Gratacos
    Genes and Disease Program, and CeGen Barcelona Genotyping Node, Center for Genomic Regulation CRG, Barcelona, Spain
    Pharmacogenomics J 8:101-12. 2008
    ..95; P=0.0025). We also identified a haplotype associated with this phenotype. This study supports the implication of BDNF in antidepressant treatment outcome in MD, with specific association with 5' upstream region of BDNF gene...
  29. ncbi Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT
    L Feliubadaló
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, Barcelona, E 08907, Spain
    Nat Genet 23:52-7. 1999
    ..Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT...
  30. ncbi A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype
    V Nunes
    Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain
    Hum Mol Genet 2:79-80. 1993
  31. ncbi Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4)
    M Chillon
    Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain
    Hum Mutat 3:223-30. 1994
    ..The total of 28 mutations identified in the 80 CF chromosomes highlight the molecular heterogeneity of CF in the Spanish population...
  32. ncbi Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes
    R Llevadot
    Cancer Research Institute, Hospital Duran i Reynals, Molecular Genetics Department, Barcelona, Spain
    Gene 208:279-83. 1998
    ..The coding regions are almost identical in size and show a high degree of similarity, especially at the amino and carboxy termini. Comparisons of 5' and 3' sequences failed to detect similarities or sequences involved in regulation...
  33. doi Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder
    P Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain
    Psychoneuroendocrinology 36:473-83. 2011
    ..Our results suggest that the ESR1 gene may contribute to the genetic vulnerability to certain OCD manifestations. The dissection of OCD into more homogeneous subphenotypes may well help to identify susceptibility genes for the disorder...
  34. ncbi High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
    T Casals
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Barcelona, Catalonia, Spain
    Hum Genet 101:365-70. 1997
    ..These data demonstrate the highest molecular heterogeneity reported so far in CF, indicating that a wide mutation screening is necessary to characterize 90% of the Spanish CF alleles...
  35. ncbi Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation
    M Mila
    Servei de Genètica, Hospital Clinic, Barcelona, Spain
    Hum Genet 100:503-7. 1997
    ..Molecular studies revealed a mosaicism for methylation in the FMR2 gene. This case supports the observation that expansions greater than 100 repeats can be partially methylated and cause the phenotype...
  36. ncbi Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome
    C Pucharcos
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona, Spain
    Eur J Hum Genet 7:704-12. 1999
    ....
  37. ncbi Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region
    A Ruiz
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Gene 239:155-61. 1999
    ..Further studies on PLAP inactivation should be performed to clarify its potential involvement in CMM...
  38. ncbi Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    E Ars
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Avia Castelldefels, Km 2 7, L Hospitalet de Llobregat, 08907 Barcelona, Spain
    Hum Mol Genet 9:237-47. 2000
    ..It is possible that part of the clinical variability in NF1 could be due to mutations affecting mRNA splicing, which is the most common molecular defect in NF1...
  39. ncbi Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene
    S Puig
    Department of Dermatology, Hospital Clinic, Barcelona, Spain
    Hum Genet 101:359-64. 1997
    ..The study strongly suggests that CDKN2A mutations are involved not only in the predisposition to CMM but also to several other types of cancer...
  40. ncbi Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24
    L Carim-Todd
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, Av Gran Via s n Km 2, 7L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Gene 262:275-81. 2001
    ..3-p12 suggests their possible common chromosomal origin. We show the existence of the murine BTBD1 and BTBD2 orthologous genes, as well as the partial rat and bovine homologs...
  41. ncbi Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
    E Serra
    Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Autovia de Castelldefels Km 2.7 08907 L'Hospitalet de Llobregat, Barcelona, Spain
    Nat Genet 28:294-6. 2001
    ....
  42. ncbi Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene
    A Manzano
    Unitat de Bioquimica, Campus de Bellvitge, U B C Feixa Llarga sn E 08907, L Hospitalet, Spain
    Gene 229:83-9. 1999
    ..This isozyme shows clear PFK-2 activity. Taken together, these results provide evidence for a new PFK-2/FBPase-2 gene coding for a human testis isozyme...
  43. pmc X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
    I Madrigal
    Biochemistry and Molecular Genetics Department, Hospital Clinic and IDIBAPS Institut d Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain
    BMC Genomics 8:443. 2007
    ..We have studied 54 patients with idiopathic mental retardation and 20 controls subjects...
  44. ncbi Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency
    A Solans
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona, Spain
    Cytogenet Cell Genet 88:43-9. 2000
    ..The sequence reported here may be helpful in identifying the primary defect in glutamate formiminotransferase deficiency and establishing a molecular diagnosis...
  45. ncbi Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis
    C Pucharcos
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Avia de Castelldefels Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    FEBS Lett 478:43-51. 2000
    ..Moreover, their overexpression, as well as the corresponding ITSN1 protein forms, inhibits transferrin internalization...
  46. ncbi Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene
    J J Fuentes
    Molecular Genetics Department, Medical and Molecular Genetics Center IRO, L Hospitalet de Llobregat, Barcelona, Spain
    Genomics 44:358-61. 1997
    ..This information should help us to understand the possible relationship of DSCR1 with Down syndrome and aid in the development of animal models...
  47. ncbi Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene
    J M Soria
    Molecular Genetics Dept, IRO, Hosp Duran i Reynals, Barcelona, Spain
    Thromb Haemost 75:870-6. 1996
    ..It is concluded that allelic exclusion is a common causative mechanism in those cases of type I protein C deficiency which result from mutations that introduce premature stop codons...
  48. ncbi Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center, Hospital Duran i Reynals, L Hospitalet, 08907 Barcelona, Catalonia, Spain
    Hum Mol Genet 10:947-52. 2001
    ..Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders...
  49. ncbi PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks
    P Benedit
    Unitat de Recerca Biomedica, Hospital Materno Infantil, Hospitals Vall d Hebron, Barcelona, Spain
    Oncogene 20:1455-64. 2001
    ..Therefore, PTOV1 is a previously unknown gene, overexpressed in early and late stages of prostate cancer. The PTOV homology block represents a new class of conserved sequence blocks present in human, rodent and fly proteins...
  50. ncbi Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity
    V Fotaki
    Genetics and Disease Program, Genomic Regulation Center, Barcelona, Spain
    Behav Neurosci 118:815-21. 2004
    ..These results are in agreement with the significant expression of Dyrk1A in structures related to motor function and support a role of Dyrk1A in the control of motor function...
  51. ncbi Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type
    M Ribases
    Genes and Disease Program, Center for Genomic Regulation, Barcelona, Catalonia, Spain
    Mol Psychiatry 8:745-51. 2003
    ..006). These results suggest that the BDNF Met66 variant may be a susceptibility factor to ED, mainly to ANR and low MBMI...
  52. doi Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene
    P Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Feixa Llarga s n, L Hospitalet de Llobregat, Barcelona, Spain
    Genes Brain Behav 7:778-85. 2008
    ..Our findings suggest that NTRK3 may contribute to the genetic susceptibility to hoarding in OCD and may constitute an interesting gene to focus on in studies of the genetic basis of obsessive-compulsive hoarding...
  53. doi Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive-compulsive disorder
    E Real
    1 Neuroscience Group IDIBELL Institut d Investigació Biomèdica de Bellvitge, CIBERSAM Centro de Investigación en Red de Salud Mental Instituto de Salud Carlos III, L Hospitalet de Llobregat, Barcelona, Spain 2 OCD Clinical and Research Unit, Department of Psychiatry, Bellvitge Hospital, Feixa Llarga s n, L Hospitalet de Llobregat, Barcelona, Spain
    Pharmacogenomics J 13:470-5. 2013
    ..These results suggest a gene-by-environment interaction effect on treatment resistance in OCD and strengthen the existing evidence of the role of the glutamatergic system in the phenomenology of OCD. ..
  54. doi Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
    D Trujillano
    Genetic Causes of Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation CRG, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain
    J Med Genet 50:455-62. 2013
    ..We have tested this approach in a cohort of 92 samples with previously characterised CFTR mutations and polymorphisms...
  55. ncbi Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility
    S Larriba
    Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
    Biol Reprod 65:394-400. 2001
    ..These findings should contribute to the understanding of patterns of in vivo expression of CFTR, MDR1, and MRP genes in CFTR-related infertility...
  56. ncbi Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31
    L Carim-Todd
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Departament de Genetica Molecular, Hospital Duran i Reynals, Av Gran Via S N, Km 2 7, L Hospitalet de Llobregat, 08907, Barcelona, Spain
    Biochim Biophys Acta 1518:200-3. 2001
    ..We have established its exon-intron structure and we have identified the corresponding orthologous genes in other species. In addition, the identification of FSD1 has led us to identify a homologous counterpart sequence on chromosome 9...
  57. ncbi Murine models for Down syndrome
    M Dierssen
    Down Syndrome Research Group, Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Granvia km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Physiol Behav 73:859-71. 2001
    ..Here we review the existing murine models and the relevance of their contribution to DS research...
  58. ncbi Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene
    M Escarceller
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, Barcelona, Spain
    DNA Seq 11:335-8. 2000
    ..EST database searching revealed the existence of a homologue gene in mouse. Thus, the C3orf1 gene is conserved and may perform an essential function in all tissues in mammals...
  59. pmc A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene
    E Ars
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Barcelona, Catalonia, Spain
    Am J Hum Genet 62:834-41. 1998
    ....
  60. ncbi Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome
    J Guimera
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Avia de Castelldefels, Km 2 7, L Hospitalet de Llobregat, Barcelona, Catalonia, 08907, Spain
    Genomics 57:407-18. 1999
    ..MNBH was overexpressed 1.5-fold in DS brains and Dyrk1 about 2.1-fold in the brains of the Ts65Dn mice. The information provided here should be valuable for MNBH mutation studies and aid in the development of DS animal models...
  61. ncbi PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family
    L Sumoy
    Institut de Recerca Oncològica IRO, Departament de Genetica Molecular, Hospital Duran i Reynals, Av Gran Via s n Km 2, 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Gene 262:199-205. 2001
    ..The close sequence conservation between the three pacsin gene products suggests they could be performing similar functions participating in the different tissues where these are expressed...
  62. ncbi Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
    C Fillat
    Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica IRO, L Hospitalet de Llobregat, Barcelona, Spain
    Am J Med Genet 100:116-21. 2001
    ..Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability...
  63. ncbi Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24
    L Carim-Todd
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, Av Gran Via s n Km 2, 7 L Hospitalet de Llobregat, 08907 Barcelona, Spain
    DNA Seq 12:67-9. 2001
    ..5 kDa. Northern blot analysis showed enhanced expression of C15orf5 in heart. C15orf5 was mapped to chromosome 15q23-q24 using the Stanford TNG4 Radiation Hybrid panel...
  64. ncbi Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
    C Lazaro
    Servei de Genètica, Hospital Clinic i Provincial, Barcelona, Spain
    Hum Genet 98:696-9. 1996
    ..05). Our results suggest that in NF1 the majority of deletions occur in oogenesis, while other types of mutations should account for the paternally derived NF1 mutations...
  65. ncbi A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart
    J J Fuentes
    Molecular Genetics Department, Hospital Duran i Reynals, L Hospitalet de Liobregat, Barcelona, Spain
    Hum Mol Genet 4:1935-44. 1995
    ....
  66. ncbi Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
    X Altafaj
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Gran Via s n, Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Hum Mol Genet 10:1915-23. 2001
    ..These alterations are comparable with those found in the partial trisomy chromosome 16 murine models of DS and suggest a causative role of DYRK1A in mental retardation and in motor anomalies of DS...
  67. ncbi Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52
    L Carim
    Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncologica, Hospital Duran i Reynals, Barcelona, Spain
    Cytogenet Cell Genet 87:85-8. 1999
    ..PDCD9 mRNA is expressed ubiquitously in adult tissues, displaying a stronger signal in heart, skeletal muscle, kidney, and liver. PDCD9 was mapped to chromosome 5q11...
  68. pmc Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria
    M J Calonge
    Departament de Genetica Molecular, Hospital Duran i Reynals, Barcelona, Spain
    Proc Natl Acad Sci U S A 92:9667-71. 1995
    ..This result establishes genetic heterogeneity for cystinuria, classically considered as a multiallelic monogenic disease...
  69. ncbi Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families
    J M Soria
    Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain
    Hum Mutat 1:428-31. 1992
    ..Furthermore, SSCP analysis allowed the detection of another previously described mutation in a PC-deficient Spanish family (178,R-->W)...
  70. pmc CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia
    A Ruiz
    Medical and Molecular Genetics Centre IRO, Hospital Duran i Reynals, Barcelona, Catalonia, Spain
    J Med Genet 36:490-3. 1999
    ..This study indicates a small role for CDKN2A in Spanish CMM families and suggests that other genes are also responsible for CMM predisposition...
  71. ncbi Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
    T Casals
    Medical and Molecular Genetics Center, Institut Recerca Oncològica IRO, Hospital Duran i Reynals, Gran Via s n Km 2 7, 09807 Barcelona, Spain
    Clin Genet 65:490-5. 2004
    ..Additionally, 90% of patients with mutations had the more functional M470 allele (p < 0.001). These results suggest the involvement of the CFTR gene in bronchiectasis of unknown etiology in adult patients...
  72. ncbi Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
    T Casals
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Barcelona, Spain
    Hum Reprod 15:1476-83. 2000
    ..In contrast with previous studies, this report suggests that CFTR might have a role in urogenital anomalies...
  73. ncbi Neurobehavioral development of two mouse lines commonly used in transgenic studies
    M Dierssen
    Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Pharmacol Biochem Behav 73:19-25. 2002
    ....
  74. pmc Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group
    N Malats
    Grup de Recerca d Epidemiologia Clínica i Molecular del Càncer, Institut Municipal d Investigacio Medica, Universitat Pompeu Fabra, Barcelona, Universitat Autonoma de Barcelona, Spain
    Gut 48:70-4. 2001
    ..An increased risk of chronic pancreatitis has been described among carriers of the cystic fibrosis transmembrane regulator (CFTR) mutation. In addition, patients with cystic fibrosis may have a higher risk of exocrine pancreatic cancer...
  75. ncbi Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype
    M Chillon
    Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain
    Hum Mol Genet 2:1741-2. 1993
  76. ncbi Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2
    J Guimera
    Molecular Genetics Department, L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Cytogenet Cell Genet 77:182-4. 1997
    ..2 by FISH and Southern blotting. Comparison of the similarities between the two sequences and mnb demonstrates that MNBH on chromosome 21 is the true human homologue of Drosophila mnb...
  77. ncbi Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB
    M Ribases
    Department of Psychiatry, Hospital Universitari Vall d Hebron, Barcelona, Catalonia, Spain
    Mol Psychiatry 14:71-85. 2009
    ....
  78. ncbi Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients
    T Casals
    Molecular Genetics Department IRO, Hospital Duran i Reynals, Barcelona, Catalonia, Spain
    Hum Mutat 10:387-92. 1997
    ..The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival...
  79. ncbi [An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families]
    M Gomez Zaera
    Centre de Genètica Mèdica i Molecular, IRO, Hospital Duran i Reynals, Barcelona
    Med Clin (Barc) 112:326-9. 1999
    ..Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder that represents the most frequent cause of visual loss among otherwise healthy young men...
  80. ncbi Candidate genes for panic disorder: insight from human and mouse genetic studies
    M Gratacos
    Genes and Disease Program, Genomic Regulation Center CRG, Pompeu Fabra University, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain
    Genes Brain Behav 6:2-23. 2007
    ..The integration of human and animal studies targeting behavioral, systems-level, cellular and molecular levels will most probably help identify new molecules with potential impact on the pathogenetic aspects of the disease...
  81. ncbi Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog
    L Carim-Todd
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran i Reynals, Av Gran Via S N, Km 2, 7, L Hospitalet de Llobregat, 08907 Barcelona, Spain
    Biochim Biophys Acta 1517:298-301. 2001
    ..We identified the corresponding orthologous genes in mouse and rat. The characterization of UBXD1 has allowed us to define a new class of UBX domain-containing proteins conserved during evolution...
  82. ncbi Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1
    X Estivill
    Molecular Genetics Department, Hospital Duran y Reynals, Barcelona, Spain
    Hum Genet 88:185-8. 1991
    ..Thus, a specific search for this mutation should be performed when studying NF1 sporadic or familiar cases for genetic analysis...
  83. pmc A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness
    Juan R Gonzalez
    Genes and Disease Program, and CEGEN Barcelona Genotyping Mode, Center for Genomic Regulation, Barcelona, Spain
    Hum Mutat 27:1135-42. 2006
    ..This model works well, especially in homozygous carriers, showing a high discriminative power. This indicates that our proposed model can be useful in the context of clinical counseling of autosomal recessive disorders...
  84. ncbi Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
    Yelena Bykhovskaya
    Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center and David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
    Mol Genet Metab 83:199-206. 2004
    ..This conclusion was supported by comparing linkage results of simulated genotypes with actual results for the four genes involved in mitochondrial RNA modification...
  85. ncbi Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
    Kati Asumalahti
    Department of Medical Genetics and Finnish Genome Center, University of Helsinki, 00014 Helsinki, Finland
    Hum Mol Genet 11:589-97. 2002
    ..These results provide strong evidence for the HCR*WWCC allele as a major genetic determinant for psoriasis, probably by a mechanism impacting on keratinocyte proliferation...
  86. ncbi Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
    Teresa Casals
    Medical and Molecular Genetics Center IRO, Hospital DIR, Barcelona, Spain
    Pancreas 28:374-9. 2004
    ..We have therefore investigated the role of the CFTR gene in a cohort of 68 CP patients...
  87. ncbi Connexin mutations in hearing loss, dermatological and neurological disorders
    Raquel Rabionet
    Deafness Research Group, Genes and Disease Research Program, Center of Genomic Regulation, Barcelona, Spain
    Trends Mol Med 8:205-12. 2002
    ..Understanding the genotype-phenotype correlations in diseases caused by mutations in connexin genes might provide important insight into the mechanisms that lead to these disorders...
  88. pmc Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    Joshua D Groman
    Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 74:176-9. 2004
    ..0, 95% CI 11.1-103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles...
  89. ncbi Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression
    Eva Thönnissen
    Institut fur Genetik, Universitat Bonn, Romerstrasse 164, 53117 Bonn, Germany
    Hum Genet 111:190-7. 2002
    ..Our results show that mutations in the connexin26 gene can affect gap junctional intercellular communication at the level of protein translation, trafficking or assembly of hemichannels...
  90. pmc MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
    Ester Ballana
    Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    BMC Med Genet 8:81. 2007
    ..However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified...
  91. ncbi Case-control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa
    Elena Cellini
    Department of Neurology and Psychiatric Sciences, University of Florence, Florence, Italy
    Psychiatr Genet 16:51-2. 2006
  92. ncbi Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
    Jacques S Beckmann
    Department of Medical Genetics, University of Lausanne and Centre Hospitalier Universitaire Vaudois, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland
    Nat Rev Genet 8:639-46. 2007
    ..This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits...
  93. ncbi Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder
    Pino Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain
    Biol Psychiatry 63:619-28. 2008
    ..We used a linkage disequilibrium (LD)-mapping approach to investigate the role that BDNF and its specific receptor neurotrophic tyrosine kinase receptor type 2 (NTRK2) may play in increasing susceptibility to OCD...
  94. pmc Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
    Juan R Gonzalez
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    BMC Bioinformatics 9:261. 2008
    ..This method establishes a threshold by using different tolerance intervals that accommodates the specific random error variability observed in each test sample...
  95. doi Maximizing association statistics over genetic models
    Juan R Gonzalez
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    Genet Epidemiol 32:246-54. 2008
    ..A simulation study shows that the use of the max-statistic is a powerful approach that provides safeguard against model uncertainty...
  96. pmc Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
    Xavier Estivill
    Center for Genomic Regulation CRG, National Genotyping Center CeGen, CIBERESP, Pompeu Fabra University UPF, Barcelona, Catalonia, Spain
    PLoS Genet 3:1787-99. 2007
    ..This reveals the need for new generation arrays (some already in the market) and the use of tailored approaches to explore the full dimension of genome variability beyond the single nucleotide scale...
  97. ncbi Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
    Ester Ballana
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    Hum Mutat 29:248-57. 2008
    ..The development of assays for reliably detecting low-level heteroplasmy, together with the study of heteroplasmic mtDNA transmission, are essential steps for a better knowledge and clinical management of mtDNA diseases...
  98. doi Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    Josep Maria Mercader
    Genes and Disease Program, Center for Genomic Regulation, 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 17:1234-44. 2008
    ..The reported data, in addition to the previous reported findings for BDNF and NTRK2, point neurotrophin signaling genes as key regulators of eating behavior and their altered cross-regulation as susceptibility factors for EDs...
  99. pmc Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility
    Xavier Sole
    Bioinformatics and Biostatistics Unit, and Translational Research Laboratory, Catalan Institute of Oncology, IDIBELL, L Hospitalet, Barcelona, Spain
    BMC Genomics 9:12. 2008
    ..Variation at 8q24 has also recently been associated with risk of breast and colorectal cancer. However, none of the risk variants map at or relatively close to known genes, with c-MYC mapping a few hundred kilobases distally...
  100. doi Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder
    Marta Ribases
    Department of Psychiatry, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Biol Psychiatry 63:935-45. 2008
    ....
  101. ncbi RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration
    Silvia Porta
    Genes and Disease Program, Center for Genomic Regulation CRG UPF, Biomedical Research Park Building, E 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 16:1039-50. 2007
    ....