Research Topics
Genomes and Genes
| S E AntonarakisSummaryAffiliation: University of Geneva Country: Switzerland Publications
| Collaborators
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Detail Information
Publications
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 environmentEmmanouil 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...- Welcome to PathoGeneticsAndrea 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... - Assaying the regulatory potential of mammalian conserved non-coding sequences in human cellsCatia 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... 
Gene finding in the chicken genomeEduardo 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...
Chromosome 21: a small land of fascinating disorders with unknown pathophysiologyStylianos 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...- 10 years of Genomics, chromosome 21, and Down syndromeS 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... - Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21S 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... - Disease-causing mutations in the human genomeS E Antonarakis
Division of Medical Genetics, University of Geneva Medical School, Switzerland
Eur J Pediatr 159:S173-8. 2000..The second most common type of mutations in human disorders is short deletions or insertions of less than 20 nucleotides... - Mendelian disorders deserve more attentionStylianos 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... - Detection of aneuploidies by paralogous sequence quantificationS 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... - Chromosome 21 and down syndrome: from genomics to pathophysiologyStylianos 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... - Chromosome 21: from sequence to applicationsS 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... - Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafnessH 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... - Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesiaL 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... - Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat proteinJ 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... - 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... - 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 mutationsU 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... - 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 YH 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... - Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3H 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... - 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... - C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningM 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... - Isolation and characterization of the mouse Aire geneL 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... - An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigreeU 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... - Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiencyM 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... - Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysisH 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... - Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3H 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... - From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription mapA 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... - Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2H Chen
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
Genomics 38:30-7. 1996.... - Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2M 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... - Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21M 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... - Frequency of replication/transcription errors in (A)/(T) runs of human genesA 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... - 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 deficiencyL 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... - Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21J L Blouin
Division of Medical Genetics, Cantonal Hospital, Geneva, Switzerland
Genomics 33:309-12. 1996.... - 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... - Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qterH Chen
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
Genomics 35:620-4. 1996.... - Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->TC 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... - The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene familyM 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... - Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemiaM 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... - 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 syndromeR 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... - Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1J 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... - Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3M 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... - Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequenceM 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... - Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneityH 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... - Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genesM 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... - Numerous potentially functional but non-genic conserved sequences on human chromosome 21Emmanouil 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.... - Chromosome 21 and Down syndrome: the post-sequence eraS 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 - Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2H 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... - Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3L Mittaz
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
Genomics 41:210-7. 1997.... - Differential gene expression studies to explore the molecular pathophysiology of Down syndromeS 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... - 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 2K 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... - Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiencyJ Villard
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
Hum Mutat 10:430-5. 1997.... - Characterization and chromosomal localization of a human P2X receptor from the urinary bladderS 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... - Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15L 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... - The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene clusterM 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... - A cSNP map and database for human chromosome 21S 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... - The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103M 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... - Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3H 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... - Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mappingL Bartoloni
Division of Medical Genetics, University and Cantonal Hospital of Geneva, Switzerland
Cytogenet Cell Genet 84:188-9. 1999 - Human chromosome 21 gene expression atlas in the mouseAlexandre 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... 
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic featuresP 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...- A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopiaS 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... - Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3H 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... - Linearization and purification of BAC DNA for the development of transgenic miceR 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... - [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... - No evidence for linkage between schizophrenia and markers at chromosome 15q13-14L 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... - A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many yearsA 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... - Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndromeBronwyn 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... - Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone massSerge 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... - Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencingSergey I Nikolaev
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
PLoS ONE 4:e6659. 2009.... - MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherAlexandre 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... - Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Uppala 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... - Early history of mammals is elucidated with the ENCODE multiple species sequencing dataSergey 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... - Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequencesDaniel 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... - Gene duplication: a drive for phenotypic diversity and cause of human diseaseBernard 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... - Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elementsSergey 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... - A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv 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... - Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex developmentJérôme 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... - Transcriptional and post-transcriptional profile of human chromosome 21Sergey 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... - 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.... - Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndromeRobert 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... - Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12Marc 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... - Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier 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... - 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 pathogenesisJoelle Michaud
Division of Medical Genetics, Geneva University Medical School, Switzerland
Blood 99:1364-72. 2002.... - 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 whitesSerge 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... - 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... - Molecular etiology of factor VIII deficiency in hemophilia AS 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... - The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3M 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... - The SH3D1A gene maps to human chromosome 21q22.1-->q22.2H 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... - LRP5 gene polymorphisms and idiopathic osteoporosis in menS 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... - Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1H Chen
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
Genomics 30:123-7. 1995.... - Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different originsH 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... - Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert 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... - The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentOlivier 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... - Mapping of small RNAs in the human ENCODE regionsChristelle 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... - No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndromeBronwyn Glaser
Department of Genetic Medicine, University of Geneva Medical School and University Hospitals, Switzerland
Am J Psychiatry 163:537-9. 2006..2DS or no effect at all. Further research is needed to characterize the implications of hemizygosity of COMT in 22q11.2DS for cognitive function... - Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3Marc 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... - Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm laborRuth 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... - Gene expression variation and expression quantitative trait mapping of human chromosome 21 genesSamuel 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... - Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingNathalie 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... - Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalancePaola 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... - Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsMarie 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...