S E Antonarakis

Summary

Affiliation: University of Geneva
Country: Switzerland

Publications

  1. pmc Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
    Emmanouil T Dermitzakis
    Division of Medical Genetics, University of Geneva Medical School, CH 1211 Geneva, Switzerland
    Genome Res 14:852-9. 2004
  2. pmc Welcome to PathoGenetics
    Andrea Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Pathogenetics 1:1. 2008
  3. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
  4. pmc Gene finding in the chicken genome
    Eduardo Eyras
    Institut Municipal d Investigacio Medica, Universitat Pompeu Fabra, Centre de Regulacio Genomica, E08003 Barcelona, Catalonia, Spain
    BMC Bioinformatics 6:131. 2005
  5. ncbi request reprint Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
    Stylianos E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Switzerland
    Int J Dev Biol 46:89-96. 2002
  6. ncbi request reprint 10 years of Genomics, chromosome 21, and Down syndrome
    S E Antonarakis
    Division of Medical Genetics, University and Cantonal Hospital of Geneva, Geneva, Switzerland
    Genomics 51:1-16. 1998
  7. ncbi request reprint Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21
    S E Antonarakis
    Division of Medical Genetics, Geneva University Medical School and Hospitals, Switzerland
    Am J Med Genet 88:348-51. 1999
  8. ncbi request reprint Disease-causing mutations in the human genome
    S E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Eur J Pediatr 159:S173-8. 2000
  9. ncbi request reprint Mendelian disorders deserve more attention
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 7:277-82. 2006
  10. pmc Detection of aneuploidies by paralogous sequence quantification
    S Deutsch
    Department of Genetic Medicine and Development, University of Geneva Medical School, GE 1211, Geneva, Switzerland
    J Med Genet 41:908-15. 2004

Collaborators

Detail Information

Publications152 found, 100 shown here

  1. pmc Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
    Emmanouil T Dermitzakis
    Division of Medical Genetics, University of Geneva Medical School, CH 1211 Geneva, Switzerland
    Genome Res 14:852-9. 2004
    ..We propose models for a global role of CNGs in genome function and regulation, through long-distance cis or trans chromosomal interactions...
  2. pmc Welcome to PathoGenetics
    Andrea Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Pathogenetics 1:1. 2008
    ..The study of abnormal conditions is of crucial importance for the understanding of normal physiology and often provides us with the rationale for the development of novel therapeutic strategies...
  3. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
    ..However, such deeply conserved elements account for <1% of the conserved non-coding sequences in the human genome, which are predominantly mammalian...
  4. pmc Gene finding in the chicken genome
    Eduardo Eyras
    Institut Municipal d Investigacio Medica, Universitat Pompeu Fabra, Centre de Regulacio Genomica, E08003 Barcelona, Catalonia, Spain
    BMC Bioinformatics 6:131. 2005
    ..We used the chicken sequence to test comparative and homology-based gene-finding methods followed by experimental validation as an effective genome annotation method...
  5. ncbi request reprint Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
    Stylianos E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Switzerland
    Int J Dev Biol 46:89-96. 2002
    ..All of that requires the functional analysis of gene products in model organisms, and the determination of the sequence variation of this chromosome...
  6. ncbi request reprint 10 years of Genomics, chromosome 21, and Down syndrome
    S E Antonarakis
    Division of Medical Genetics, University and Cantonal Hospital of Geneva, Geneva, Switzerland
    Genomics 51:1-16. 1998
    ..Novel therapeutic interventions for Down syndrome and the monogenic and polygenic disorders that map to HC21 will be designed and tried based on the knowledge of the disease pathogenesis resulting from the genomic analysis...
  7. ncbi request reprint Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21
    S E Antonarakis
    Division of Medical Genetics, Geneva University Medical School and Hospitals, Switzerland
    Am J Med Genet 88:348-51. 1999
    ..These results do not support the hypothesis that larger KCNN3 alleles are preferentially associated with schizophrenia [Chandy et al. 1998 Mol Psychiatr 3:32-37] in individuals from multiply affected families...
  8. ncbi request reprint Disease-causing mutations in the human genome
    S E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Eur J Pediatr 159:S173-8. 2000
    ....
  9. ncbi request reprint Mendelian disorders deserve more attention
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 7:277-82. 2006
    ..The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits...
  10. pmc Detection of aneuploidies by paralogous sequence quantification
    S Deutsch
    Department of Genetic Medicine and Development, University of Geneva Medical School, GE 1211, Geneva, Switzerland
    J Med Genet 41:908-15. 2004
    ..Pre-natal diagnosis of aneuploidies is most commonly performed by the karyotyping of fetal cells obtained by amniocentesis or chorionic villus sampling, but this method is labour intensive and requires about 14 days to complete...
  11. ncbi request reprint Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004
    ..Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance...
  12. ncbi request reprint Chromosome 21: from sequence to applications
    S E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
    Curr Opin Genet Dev 11:241-6. 2001
    ..All these steps require the functional analysis of gene products and the determination of the sequence variation of this chromosome...
  13. ncbi request reprint Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    H S Scott
    Division of Medical Genetics, University of Geneva Medical School, Geneve, Switzerland
    Nat Genet 27:59-63. 2001
    ..This is the first description of beta-satellite insertion into an active gene resulting in a pathogenic state, and the first description of a protease involved in hearing loss...
  14. ncbi request reprint Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
    L Bartoloni
    Division of Medical Genetics, University of Geneva Medical School and, Geneva, Switzerland
    Genomics 72:21-33. 2001
    ..In the absence of pathogenic mutations, the DNAH9 gene has been excluded as being responsible for autosomal recessive PCD in these families...
  15. ncbi request reprint Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein
    J Michaud
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Genomics 68:71-9. 2000
    ..WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies...
  16. ncbi request reprint Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)
    H S Scott
    Laboratory of Human Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 48:330-40. 1998
    ..The possible roles of HRMT1L1 and HRMT1L2 in human disease are currently unknown...
  17. pmc The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
    U Radhakrishna
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Am J Hum Genet 65:645-55. 1999
    ..We propose that all phenotypes associated with GLI3 mutations be called "GLI3 morphopathies," since the phenotypic borders of the resulting syndromes are not well defined and there is no apparent genotype-phenotype correlation...
  18. ncbi request reprint A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y
    H Chen
    Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Hum Genet 105:399-409. 1999
    ..It is also unknown whether all copies of TPTE are functional or whether some are pseudogenes. TPTE is, to our knowledge, the gene located closest to the human centromeric sequences...
  19. ncbi request reprint Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3
    H S Scott
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Hum Genet 99:616-23. 1997
    ..In addition, the initial method of EST identification for gene isolation presented here is valid for many genes and can be used to obtain initial sequence contigs without cloning or library screening...
  20. ncbi request reprint No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)
    A K Maiti
    Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Switzerland
    Cytogenet Cell Genet 90:119-22. 2000
    ..No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined...
  21. ncbi request reprint C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning
    M Guipponi
    Division of Medical Genetics, University and Cantonal Hospital, 1 rue Michel Servet, Geneva 4, 1211, Switzerland
    Genomics 68:30-40. 2000
    ..elegans. This study provides the first example of the use of C. elegans as a model to study the function of genes on human chromosome 21 that might be involved in Down syndrome...
  22. ncbi request reprint Isolation and characterization of the mouse Aire gene
    L Mittaz
    Division of Medical Genetics, University of Geneva, Medical School, Switzerland
    Biochem Biophys Res Commun 255:483-90. 1999
    ..We have mapped mouse Aire to mouse chromosome 10 by FISH, to the same region as Pwp2 and Pfkl, confirming synteny to the corresponding region of human chromosome 21...
  23. ncbi request reprint An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree
    U Radhakrishna
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 9:39-44. 2001
    ..Haplotype analysis enabled the mapping of the BPAD locus in this family between markers D20S186 and D20S109, to a region of approximately 42 cM...
  24. ncbi request reprint Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency
    M Neerman-Arbez
    Department of Genetics and Microbiology, Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Blood 93:2253-60. 1999
    ..In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci...
  25. ncbi request reprint Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis
    H S Scott
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 47:64-70. 1998
    ..Mutation analysis using sequencing of RT-PCR and genomic DNA-derived PCR products, SSCP, and Southern and Northern blot analyses in APECED patients excluded C21orf2 as the gene for APECED...
  26. ncbi request reprint Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 41:193-200. 1997
    ..Targeted disruption of the PKNOX1 homolog in mice will enhance our understanding of its biological function in normal mammalian development...
  27. ncbi request reprint From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map
    A Reymond
    Division of Medical Genetics, University of Geneva Medical School, Geneva, 1211, Switzerland
    Genomics 78:46-54. 2001
    ..It also provides new candidates for genes involved in Down syndrome and other genetic disorders that map to HC21...
  28. ncbi request reprint Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 38:30-7. 1996
    ....
  29. ncbi request reprint Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2
    M Guipponi
    Laboratory of Human Molecular Genetics, University of Geneva Medical School, Division of Medical Genetics, Cantonal Hospital of Geneva, Geneva, Switzerland
    Cytogenet Cell Genet 83:218-20. 1998
    ..The probable function of the ITSN isoforms and mapping position of ITSN suggest that disproportionate expression of this gene may be implicated in the phenotypic characteristics of Down syndrome...
  30. ncbi request reprint Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
    M Guipponi
    Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Hum Genet 107:127-31. 2000
    ..This is the first description of the genomic sequence of a non-RNR gene on the short arm of human acrocentric chromosomes...
  31. ncbi request reprint Frequency of replication/transcription errors in (A)/(T) runs of human genes
    A Paoloni-Giacobino
    Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel-Servet, 1211 Geneva 4, Switzerland
    Hum Genet 109:40-7. 2001
    ..This imperfect fidelity of the gene expression process may explain the evolutionary disadvantage of nucleotide repeats within coding sequences, and that these repeats are targets for mutations in human diseases...
  32. ncbi request reprint Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency
    L Bartoloni
    Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital of Geneva, Switzerland
    Genomics 70:190-200. 2000
    ..SLC37A1 maps in the refined critical region of the autosomal recessive deafness locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10...
  33. ncbi request reprint Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21
    J L Blouin
    Division of Medical Genetics, Cantonal Hospital, Geneva, Switzerland
    Genomics 33:309-12. 1996
    ....
  34. pmc Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
    M D Lalioti
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Am J Hum Genet 60:342-51. 1997
    ..In addition, a tandem repeat in the 5' UTR (CCCCGCCCCGCG) is present two or three times in normal alleles. It is peculiar that in the majority of patients no mutations exist within the exons and splice sites of the cystatin B gene...
  35. ncbi request reprint Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 35:620-4. 1996
    ....
  36. ncbi request reprint Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T
    C Attanasio
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 97:1879-81. 2001
    ..Our results confirm the utility of transfecting COS-7 cells to study mRNA splice-site mutations and demonstrate that the common FGA IVS4 variant is a null mutation leading to afibrinogenemia...
  37. ncbi request reprint The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family
    M Guipponi
    Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Hum Genet 109:569-75. 2001
    ..The Y chromosome copy of TPTE is a pseudogene and is not therefore involved in the testis expression of this gene family...
  38. ncbi request reprint Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 96:149-52. 2000
    ..Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia...
  39. ncbi request reprint Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome
    R Chrast
    Division of Medical Genetics, Geneva University Medical School and University Hospital, 1 rue Michel Servet, CH 1211 Geneve 4, Switzerland
    Hum Mol Genet 9:1853-64. 2000
    ..Our data therefore suggest that overexpression of SIM2 contributes to some of the complex DS phenotypes...
  40. ncbi request reprint Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
    J L Blouin
    Division of Medical Genetics, Centre Medical Universitaire, Geneve, Switzerland
    Hum Genet 102:282-8. 1998
    ..8 kb was observed in adult testis. The contribution of the BACH1 gene to the pathophysiology of trisomy or monosomy 21 is unknown. In addition, no monogenic disorders associated with mutations in the BACH1 gene have yet been identified...
  41. ncbi request reprint Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3
    M D Lalioti
    Department of Genetics and Microbiology, University of Geneva Medical School, Geneva 4, CH 1211, Switzerland
    Genomics 35:321-7. 1996
    ..4 kb mRNA species). This single-copy gene maps approximately 200 kb proximal to PFKL in chromosome 21q22.3 between markers EHOC-1 and D21S25...
  42. ncbi request reprint Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence
    M Guipponi
    Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital of Geneva, Switzerland
    Hum Genet 103:386-92. 1998
    ..Since functional disturbances in intraneuronal signal transmission via second messengers play an important role in the pathophysiology of affective disorders, PDE9A is a strong candidate for such a role by position and function...
  43. pmc Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity
    H Mehenni
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Am J Hum Genet 63:1641-50. 1998
    ..The elucidation of the molecular etiology of PJS and the positional cloning of the second potential PJS gene will further elucidate the involvement of kinases/phosphatases in the development of cancer-predisposing syndromes...
  44. ncbi request reprint Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
    M Neerman-Arbez
    Centre Medical Universitaire, Geneva, Switzerland
    Hum Genet 108:237-40. 2001
    ..Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia...
  45. ncbi request reprint Numerous potentially functional but non-genic conserved sequences on human chromosome 21
    Emmanouil T Dermitzakis
    Division of Medical Genetics, 1 rue Michel Servet, University of Geneva Medical School and University Hospitals of Geneva, CH 1211 Geneva, Switzerland
    Nature 420:578-82. 2002
    ....
  46. ncbi request reprint Chromosome 21 and Down syndrome: the post-sequence era
    S E Antonarakis
    Division of Medical Genetics, NCCR Frontiers in Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
    Cold Spring Harb Symp Quant Biol 68:425-30. 2003
  47. ncbi request reprint Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Hum Genet 99:262-5. 1997
    ..Altered expression of the human MNB gene may be involved in the pathogenesis of certain phenotypes of Down syndrome, including mental retardation...
  48. ncbi request reprint Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3
    L Mittaz
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 41:210-7. 1997
    ....
  49. ncbi request reprint Differential gene expression studies to explore the molecular pathophysiology of Down syndrome
    S E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School, Centre Medical Universitaire, 1 rue Michel Servet, 1211, Geneva, Switzerland
    Brain Res Brain Res Rev 36:265-74. 2001
    ..The study of the overexpression of single genes, and the dysregulation of global gene expression will enhance the understanding of the pathogenesis of the cognitive impairment of this syndrome...
  50. ncbi request reprint Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2
    K Buchet-Poyau
    Division of Medical Genetics, Geneva University Medical School, and University Hospitals, Geneva, Switzerland
    Cytogenet Genome Res 97:171-8. 2002
    ..Finally, we also excluded the recently identified STK11-interacting protein gene (STK11IP, alias LIP1) mapped in 2q36 as candidate for PJS in the PJS07 family, although this could be a good candidate in other non-STK11/LKB1 families...
  51. ncbi request reprint Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
    J Villard
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Hum Mutat 10:430-5. 1997
    ....
  52. ncbi request reprint Characterization and chromosomal localization of a human P2X receptor from the urinary bladder
    S Valera
    Glaxo Institute for Molecular Biology, Geneva, Switzerland
    Receptors Channels 3:283-9. 1995
    ..By fluorescent in situ hybridization the hP2X gene was mapped to the short arm of human chromosome 17. Expressed in Xenopus oocytes, the receptor was sensitive to the purinergic agonists ATP and alpha,beta-methylene ATP...
  53. ncbi request reprint Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15
    L Mittaz
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Hum Genet 100:398-400. 1997
    ..This allowed us to localize hRED2 on chromosome 10p15; until now, no genetic diseases have been mapped in this region or in the syntenic mouse chromosomal region that may involve RED2...
  54. ncbi request reprint The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Eur J Hum Genet 7:897-902. 1999
    ..Analysis with closely linked flanking polymorphic markers revealed the existence of at least two haplotypes, further suggesting independent origins of the deletions in this family...
  55. pmc A cSNP map and database for human chromosome 21
    S Deutsch
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Genome Res 11:300-7. 2001
    ..unige.ch or http://csnp.isb-sib.ch. These SNPs provide a tool to study the contribution of HC21 loci to complex diseases such as bipolar affective disorder and allele-specific contributions to Down syndrome phenotypes...
  56. pmc The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103
    M Neerman-Arbez
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Am J Hum Genet 61:143-50. 1997
    ..There exists an apparently gap-free contig with CEPH YACs linking the two markers on either side of the critical region. Positional cloning efforts are now in progress to clone the F5F8D gene...
  57. pmc Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3
    H Chen
    Laboratory of Human Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Am J Hum Genet 59:66-75. 1996
    ..The gene is expressed at various levels in many human tissues. The contributions of this gene to the Down syndrome phenotypes, to human eye color, and to the resulting phenotypes of null or missense mutations are presently unknown...
  58. ncbi request reprint Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping
    L Bartoloni
    Division of Medical Genetics, University and Cantonal Hospital of Geneva, Switzerland
    Cytogenet Cell Genet 84:188-9. 1999
  59. ncbi request reprint Human chromosome 21 gene expression atlas in the mouse
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
    Nature 420:582-6. 2002
    ..This high resolution expression 'atlas' of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome...
  60. doi request reprint De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
    P Makrythanasis
    Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Clin Genet 78:175-80. 2010
    ..This case broadens the phenotypic spectrum of MECP2 abnormalities with consequent implication in diagnosis and genetic counselling of girls with non-syndromic mental retardation...
  61. ncbi request reprint A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia
    S Gimelli
    Service of Genetic Medicine, University Hospitals of Geneva, CMU, 1 rue Michel Servet, 1205 Geneva, Switzerland
    Eur J Med Genet 54:94-6. 2011
    ..The deleted region encompasses 16 RefSeq genes. Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia...
  62. ncbi request reprint Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Hum Genet 98:672-7. 1996
    ..It is also presently unknown whether overexpression of the PEP-19 gene is involved in certain phenotypes of Down syndrome...
  63. ncbi request reprint Linearization and purification of BAC DNA for the development of transgenic mice
    R Chrast
    Department of Medical Genetics, Geneva University Medical School, Switzerland
    Transgenic Res 8:147-50. 1999
    ..Linearized BAC DNA purified this way was successfully used for the development of transgenic mice containing 2-4 copies of the transgene...
  64. ncbi request reprint [The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy]
    S Fokstuen
    Service de Genetique Medicale, Département de gynécologie et obstétrique, CMU, Geneve
    Rev Med Suisse 1:1448, 1450, 1452-3. 2005
    ..This information will enable us to develop new therapeutic and preventive concepts, with the aim of tailoring therapies to the specific genetic variant of each patient and its family...
  65. ncbi request reprint No evidence for linkage between schizophrenia and markers at chromosome 15q13-14
    L Curtis
    Department of Physiology, University of Geneva, Switzerland
    Am J Med Genet 88:109-12. 1999
    ..We conclude that in our families the region around the CHRNA7 locus does not contain a major locus for susceptibility to schizophrenia...
  66. ncbi request reprint A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years
    A Savioz
    Department of Psychiatry, University of Geneva School of Medicine, Switzerland
    Acta Neuropathol 93:408-13. 1997
    ..Thus, high molecular weight, PCR-amplifiable genomic DNA can be extracted from brains stored in formalin for almost half a century...
  67. doi request reprint Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome
    Bronwyn Glaser
    University of Geneva School of Medicine, Switzerland
    J Am Acad Child Adolesc Psychiatry 49:665-74. 2010
    ..The current study investigated eye gaze as a potential marker during a face-processing task in children and young adolescents with 22q11DS...
  68. ncbi request reprint Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass
    Serge L Ferrari
    Division of Bone Diseases, Department of Rehabilitation and Geriatrics, Geneva University Hospital, Geneva, Switzerland
    Curr Opin Lipidol 16:207-14. 2005
    ..This review summarizes recent findings concerning the genomic variations of the lipoprotein receptor-related protein 5 (LPR5) in relation to bone biology...
  69. pmc Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS ONE 4:e6659. 2009
    ....
  70. ncbi request reprint MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
    Alexandre G Dayer
    Service of Medical Genetics and Neuropediatric Unit, Geneva University Hospitals, 1 rue Michel Servet 1211, Geneva Switzerland
    Brain Dev 29:47-50. 2007
    ..The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations...
  71. pmc Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34
    Uppala Radhakrishna
    Green Cross Blood Bank and Genetic Research Centre, Paldi, India
    Am J Hum Genet 79:580-5. 2006
    ..17 cM (7.42 Mb) between SNPs rs951095 and rs726455. Thus, we have identified a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families...
  72. pmc Early history of mammals is elucidated with the ENCODE multiple species sequencing data
    Sergey Nikolaev
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
    PLoS Genet 3:e2. 2007
    ..Thus, the two datasets support the Afrotheria hypothesis; however, none can reject both of the remaining topological alternatives...
  73. pmc Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences
    Daniel Robyr
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    PLoS ONE 6:e17634. 2011
    ..These CNC-CNC interactions may in part explain their stringent conservation as a group of regulatory sequences...
  74. ncbi request reprint Gene duplication: a drive for phenotypic diversity and cause of human disease
    Bernard Conrad
    Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, CH 1211 Geneva 4, Switzerland
    Annu Rev Genomics Hum Genet 8:17-35. 2007
    ..Small genomic duplications containing defense-related genes also contribute to complex common phenotypes...
  75. pmc Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Proc Natl Acad Sci U S A 104:20443-8. 2007
    ..This observation may explain why the evolution of CNCs fits the expectations of the nearly neutral theory less well than the evolution of nonsynonymous sites...
  76. doi request reprint A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Siv Fokstuen
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 29:879-85. 2008
    ..The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification...
  77. pmc Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development
    Jérôme Bonnefont
    Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Rue Michel Servet 1, 1211 Geneva, Switzerland
    Am J Hum Genet 83:208-18. 2008
    ..Thus, we propose that the recent emergence and multiplication of the RFPL1,2,3 genes contribute to changes in primate neocortex size and/or organization...
  78. pmc Transcriptional and post-transcriptional profile of human chromosome 21
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Genome Res 19:1471-9. 2009
    ..We demonstrate that the combination of RNA fractionation and tiling arrays is a powerful method to assess the transcriptional and post-transcriptional properties of genomic regions...
  79. doi request reprint Mendelian disorders and multifactorial traits: the big divide or one for all?
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Nat Rev Genet 11:380-4. 2010
    ....
  80. pmc Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 14:1268-74. 2004
    ..5-fold. These data provide candidate genes that might be involved in the phenotypes of Down syndrome, and reveal a complex regulation of gene expression that is not only related to gene copy number...
  81. ncbi request reprint Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12
    Marc Friedli
    Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1 rue Michel Servet, CH 1211 Geneva 4, Switzerland
    Gene 320:31-40. 2003
    ..Attempts to functionally characterise CLIC6 by voltage clamp failed to show any chloride channel activity. Hence, the exact function of this protein remains unknown...
  82. ncbi request reprint Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, Geneva, Switzerland
    Hum Mutat 23:77-84. 2004
    ..We named the second unmapped locus for Knobloch syndrome KNO2. Mutation analysis excluded COL15A1, a member of the multiplexin collagen subfamily similar to COL18A1, as being responsible for KNO2...
  83. ncbi request reprint In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
    Joelle Michaud
    Division of Medical Genetics, Geneva University Medical School, Switzerland
    Blood 99:1364-72. 2002
    ....
  84. pmc Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites
    Serge L Ferrari
    Division of Bone Diseases, University Hospital of Geneva, Geneva 1211, Switzerland
    Am J Hum Genet 74:866-75. 2004
    ..Together, these results suggest that LRP5 variants significantly contribute to LS-bone-mass and size determination in men by influencing vertebral bone growth during childhood...
  85. ncbi request reprint Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
    Emmanouil T Dermitzakis
    Division of Medical Genetics and National Center of Competence in Research NCCR Frontiers in Genetics, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Science 302:1033-5. 2003
    ..About 0.3% to 1% of the human genome corresponds to a previously unknown class of extremely constrained CNGs shared among mammals...
  86. ncbi request reprint Molecular etiology of factor VIII deficiency in hemophilia A
    S E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Switzerland
    Hum Mutat 5:1-22. 1995
    ..This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance...
  87. ncbi request reprint The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3
    M D Lalioti
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 33:298-300. 1996
    ..Furthermore, because this gene maps in the critical region for the progressive myoclonus epilepsy I locus (EPM1), mutation analysis will be carried out in patients to evaluate the potential role of U2AF1 as a candidate for EPM1...
  88. ncbi request reprint The SH3D1A gene maps to human chromosome 21q22.1-->q22.2
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Cytogenet Cell Genet 78:213-5. 1997
    ..1996). We subsequently mapped this gene to YACs and cosmids within 21q22.1-->q22.2 between DNA markers D21S319 and D21S65 using hybridization and PCR amplification...
  89. ncbi request reprint LRP5 gene polymorphisms and idiopathic osteoporosis in men
    S L Ferrari
    Service of Bone Diseases, Department of Rehabilitation and Geriatrics, Geneva University Hospital, Geneva, Switzerland
    Bone 37:770-5. 2005
    ..In conclusion, these data indicate beyond a significant role for environmental factors, an association between LRP5 variants and idiopathic osteoporosis in males, pointing to a role of LRP5 in this disease...
  90. ncbi request reprint Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 30:123-7. 1995
    ....
  91. ncbi request reprint Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
    H S Scott
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Mol Endocrinol 12:1112-9. 1998
    ..In addition, the polymorphisms presented provide the tools for investigation of the involvement of AIRE in other autoimmune diseases, particularly those affecting the endocrine system...
  92. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
    ..However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype...
  93. ncbi request reprint The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Genomics 84:320-30. 2004
    ..These results show that pad-2 is required for normal development and suggest potential roles for C21orf80 in the pathogenesis of DS...
  94. pmc Mapping of small RNAs in the human ENCODE regions
    Christelle Borel
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva 1211, Switzerland
    Am J Hum Genet 82:971-81. 2008
    ..Notably, most of the remaining candidates showed a larger hybridizing band ( approximately 100 nt) that could be a microRNA precursor. The small RNA transcriptome is emerging as an important and abundant component of the genome function...
  95. ncbi request reprint No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome
    Bronwyn Glaser
    Department of Genetic Medicine, University of Geneva Medical School and University Hospitals, Switzerland
    Am J Psychiatry 163:537-9. 2006
    ..2 deletion syndrome (22q11.2DS) have yielded inconsistent results. The goal of the present study was to replicate a recent finding that executive function is higher in individuals hemizygous for the Met allele...
  96. doi request reprint Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mamm Genome 19:272-8. 2008
    ..Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene...
  97. ncbi request reprint Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor
    Ruth Landau
    Division of Anesthesiology and Department of Obstetrics and Gynecology, University Hospital of Geneva, University of Geneva Medical School, Geneva, Switzerland
    Clin Pharmacol Ther 78:656-63. 2005
    ..We have demonstrated that homozygosity for Arg16 protects against preterm delivery. Our goal was to determine whether beta(2)-agonists are more effective in women with the Arg16 genotype and preterm labor...
  98. ncbi request reprint Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
    ..5-fold in control samples, are unlikely to be involved in DS-phenotypes present in all affected individuals...
  99. ncbi request reprint Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling
    Nathalie Lin-Marq
    Department of Genetics Medicine and Development, University of Geneva Medical School, C M U, 1 rue Michel Servet, 1211, Geneve 4, Switzerland
    Mol Genet Genomics 273:184-96. 2005
    ..This suggests that pathogenic LKB1 mutations that lead to activation of the Wnt/beta-catenin pathway could contribute to the cancer predisposition of PJS patients...
  100. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
    ..This study provides the first extensive data set on HSA21 gene-expression variation in DS and underscores its role in modulating the outcome of gene-dosage imbalance...
  101. ncbi request reprint Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Marie Wattenhofer
    Graduate Program of Molecular and Cellular Biology, University of Geneva Medical School, Geneva, Switzerland
    J Mol Med (Berl) 80:124-31. 2002
    ..45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families...