Pathologie Moléculaire de la Trisomie 21 et Les polymorphismes et les pathologies du Génome Humain

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Publications du groupe

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
EUROPEAN JOURNAL OF HUMAN GENETICS
2009 vol. 17(4) pp. 454-466
LYLE R. AND AL.

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
EUROPEAN JOURNAL OF MEDICAL GENETICS
2009 vol. 52(1) pp. 49-52
LESPINASSE J, GIMELLI S, BENA F, ANTONARAKIS SE, ANSERMET F, PAOLONI-GIACOBINO A

Identifying protein-coding genes in genomic sequences.
GENOME BIOLOGY
2009 vol. 10(1) pp. 201-201
HARROW J, NAGY A, REYMOND A, ALIOTO T, PATTHY L, ANTONARAKIS SE, GUIGO R

Transcriptional and post-transcriptional profile of human chromosome 21
GENOME RESEARCH
2009 vol. 19(8) pp. 1471-1479
NIKOLAEV S AND AL.

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
HUMAN MOLECULAR GENETICS
2009 vol. 18(24) pp. 4756-4769
PEREIRA PL AND AL.

Three Common Polymorphisms in the CYBA Gene Form a Haplotype Associated With Decreased ROS Generation
HUMAN MUTATION
2009 vol. 30(7) pp. 1123-1133
BEDARD K, ATTAR H, BONNEFONT J, JAQUET V, BOREL C, PLASTRE O, STASIA MJ, ANTONARAKIS SE, KRAUSE KH

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
HUMAN MUTATION
2009 vol. 30(9) pp. 866-879
MAKRYTHANASIS P AND AL.

Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype
JOURNAL OF IMMUNOLOGY
2009 vol. 182(6) pp. 3902-3918
HUBERT FX AND AL.

Proliferation Deficits and Gene Expression Dysregulation in Down's Syndrome (Ts1Cje) Neural Progenitor Cells Cultured From Neurospheres
JOURNAL OF NEUROSCIENCE RESEARCH
2009 vol. 87(14) pp. 3143-3152
MOLDRICH RX. AND AL.

Common genetic variation and the control of HIV-1 in humans.
PLOS GENETICS
2009 vol. 5(12) pp. 1000791-1000791
FELLAY J. AND AL.

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.
PLOS GENETICS
2009 vol. 5(6) pp. 1000522-1000522
D'HAENE B. AND AL.

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.
PLOS ONE
2009 vol. 4(8) pp. 6659-6659
NIKOLAEV SI, ISELI C, SHARP AJ, ROBYR D, ROUGEMONT J, GEHRIG C, FARINELLI L, ANTONARAKIS SE

Genetic structure of Europeans: a view from the North-East.
PLOS ONE
2009 vol. 4(5) pp. 5472-5472
NELIS M. AND AL.

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner
SCIENCE
2009 vol. 325(5945) pp. 1246-1250
DIMAS AS AND AL.

The genome sequence of taurine cattle: a window to ruminant biology and evolution.
SCIENCE
2009 vol. 324(5926) pp. 522-528
ELSIK CG AND AL.

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS
2008 vol. 83(3) pp. 388-400
CANZONETTA C AND AL.

Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
AMERICAN JOURNAL OF HUMAN GENETICS
2008 vol. 83(2) pp. 208-218
BONNEFONT J, NIKOLAEV SI, PERRIER ARNAUD, GUO S, CARTIER L, SORCE S, LAFORGE T, AUBRY L, KHAITOVICH P, PESCHANSKI M, ANTONARAKIS SE, KRAUSE KH

Mapping of small RNAs in the human ENCODE regions.
AMERICAN JOURNAL OF HUMAN GENETICS
2008 vol. 82(4) pp. 971-981
BOREL C, GAGNEBIN M, GEHRIG C, KRIVENTSEVA E, ZDOBNOV EVGENY, ANTONARAKIS S

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2008 vol. 146A(16) pp. 2086-2093
DAHOUN S AND AL.

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2008 vol. 146A(16) pp. 2094-2102
MARTINET D AND AL.

Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening.
CANCER RESEARCH
2008 vol. 68(19) pp. 8146-8155
GAGOS S, CHIOUREA M, CHRISTODOULIDOU A, APOSTOLOU E, RAFTOPOULOU C, DEUSTCH S, JEFFORD CE, IRMINGER-FINGER I, SHAY JW, ANTONARAKIS SE

CNVs and genetic medicine (excitement and consequences of a rediscovery).
CYTOGENETIC AND GENOME RESEARCH
2008 vol. 123(1-4) pp. 7-16
BECKMANN JS, SHARP AJ, ANTONARAKIS SE

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells.
GENOME BIOLOGY
2008 vol. 9(12) pp. 168-168
ATTANASIO C AND AL

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
HUMAN MUTATION
2008 vol. 29(6) pp. 879-885
FOKSTUEN S AND AL

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
HUMAN MUTATION
2008 vol. 29(2) pp. 289-298
SCHWABE GC AND AL

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3.
MAMMALIAN GENOME
2008 vol. 19(4) pp. 272-278
FRIEDLI M, NIKOLAEV S, LYLE R, ARCANGELI M, DUBOULE D, SPITZ F, ANTONARAKIS SE

Functional genetic variation of human miRNAs and phenotypic consequences.
MAMMALIAN GENOME
2008 vol. 19(7-8) pp. 503-509
BOREL C, ANTONARAKIS SE

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
MOLECULAR PHARMACOLOGY
2008 vol. 74(2) pp. 379-391
HODA JC AND AL.

Efficient targeted transcript discovery via array-based normalization of RACE libraries.
NATURE METHODS
2008 vol. 5(7) pp. 629-635
DJEBALI S AND AL.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
NEW ENGLAND JOURNAL OF MEDICINE
2008 vol. 359(16) pp. 1685-1699
MEFFORD HC AND AL.

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin.
NUCLEIC ACIDS RESEARCH
2008 vol. 36(21) pp. 6918-6925
KAZADI K, LOEUILLET C, DEUTSCH S, CIUFFI A, MUNOZ M, BECKMANN JS, MORADPOUR D, ANTONARAKIS SE, TELENTI A

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
PLOS BIOLOGY
2008 vol. 6(2) pp. 32-32
LOEUILLET C, DEUTSCH S, CIUFFI A, ROBYR D, TAFFÉ P, MUNOZ M, BECKMANN JS, ANTONARAKIS SE, TELENTI A

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2008 vol. 105(27) pp. 9415-9420
VORONOV SV AND AL.

Autosomal dominant nonsyndromic cleft lip and palate: Significant evidence of linkage at 18q21.1
AMERICAN JOURNAL OF HUMAN GENETICS
2007 vol. 81 pp. 180-188
BEIRAGHI, S, NATH, SK, GAINES, M, MANDHYAN, DD, HUTCHINGS, D, RATNAMALA, U, MCELREAVEY, K, BARTOLONI, L, ANTONARAKIS, GS, ANTONARAKIS, SE, RADHAKRISHNA, U

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1
AMERICAN JOURNAL OF HUMAN GENETICS
2007 vol. 80 pp. 105-111
NAVEED, M, NATH, SK, GAINES, M, AL-ALI, MT, AL-KHAJA, N, HUTCHINGS, D, GOLLA, J, DEUTSCH, S, BOTTANI, A, ANTONARAKIS, SE, RATNAMALA, U, RADHAKRISHNA, U

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3 ' untranslated region: A mechanism for functional single-nucleotide polymorphisms related to phe notypes
AMERICAN JOURNAL OF HUMAN GENETICS
2007 vol. 81 pp. 405-413
SETHUPATHY, P, BOREL, C, GAGNEBIN, M, GRANT, GR, DEUTSCH, S, ELTON, TS, HATZIGEORGIOU, AG, ANTONARAKIS, SE

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phen otypes
AMERICAN JOURNAL OF HUMAN GENETICS
2007 vol. 81(2) pp. 405-413
SETHUPATHY P, BOREL C, GAGNEBIN M, GRANT GR, DEUTSCH S, ELTON TS, HATZIGEORGIOU AG, ANTONARAKIS SE

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
AMERICAN JOURNAL OF HUMAN GENETICS
2007 vol. 81 pp. 252-263
PRANDINI, P, DEUTSCH, S, LYLE, R, GAGNEBIN, M, VIVIER, CD, DELORENZI, M, GEHRIG, C, DESCOMBES, P, SHERMAN, S, BRICARELLI, FD, BALDO, C, NOVELLI, A, DALLAPICCOLA, B, ANTONARAKIS, SE

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2007 vol. 143 pp. 888-890
BOTTANI, A, CHELLY, J, DE BROUWER, APM, PARDO, B, BARKER, M, CAPRA, V, BARTOLONI, L, ANTONARAKIS, SE, CONRAD, B

Gene duplication: A drive for phenotypic diversity and cause of human disease
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
2007 vol. 8 pp. 17-35
CONRAD, B, ANTONARAKIS, SE

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
BRAIN & DEVELOPMENT
2007 vol. 29 pp. 47-50
DAYER AG, BOTTANI A, BOUCHARDY I, FLUSS J, ANTONARAKIS SE, HAENGGELI CA, MORRIS MA

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
GENOME RESEARCH
2007 vol. 17 pp. 760-774
MARGULIES EH ET AL.

Islands of euchromatin-like sequence and expressed of polymorphic sequences within the short arm of human chromosome 21
GENOME RESEARCH
2007 vol. 17 pp. 1690-1696
LYLE, R, PRANDINI, P, OSOEGAWA, K, TEN HALLERS, B, HUMPHRAY, S, ZHU, BL, EYRAS, E, CASTELO, R, BIRD, CP, GAGOS, S, SCOTT, C, COX, A, DEUTSCH, S, UCLA, C, CRUTS, M, DAHOUN, S, SHE, XW, BENA, F, WANG, SY, VAN BROECKHOVEN, C, EICHLER, EE

Prominent use of distal 5 ' transcription start sites and discovery of a large number of additional exons in ENCODE regions
GENOME RESEARCH
2007 vol. 17 pp. 746-759
DENOEUD, F, KAPRANOV, P, UCLA, C, FRANKISH, A, CASTELO, R, DRENKOW, J, LAGARDE, J, ALIOTO, T, MANZANO, C, CHRAST, J, DIKE, S, WYSS, C, HENRICHSEN, CN, HOLROYD, N, DICKSON, MC, TAYLOR, R, HANCE, Z, FOISSAC, S, MYERS, RM, ROGERS, J, HUBBARD, T

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions
GENOME RESEARCH
2007 vol. 17(6) pp. 746-759
DENOEUD F ET AL.

Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution
GENOME RESEARCH
2007 vol. 17 pp. 839-851
ZHENG, DY, FRANKISH, A, BAERTSCH, R, KAPRANOV, P, REYMOND, A, CHOO, SW, LU, YT, DENOEUD, F, ANTONARAKIS, SE, SNYDER, M, RUAN, YJ, WEI, CL, GINGERAS, TR, GUIGO, R, HARROW, J, GERSTEIN, MB

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution
GENOME RESEARCH
2007 vol. 17(6) pp. 839-851
ZHENG D ET AL.

Structured RNAs in the ENCODE selected regions of the human genome
GENOME RESEARCH
2007 vol. 17 pp. 852-864
WASHIETL, S, PEDERSEN, JS, KORBEL, JO, STOCSITS, C, GRUBER, AR, HACKERMULLER, J, HERTEL, J, LINDEMEYER, M, REICHE, K, TANZER, A, UCLA, C, WYSS, C, ANTONARAKIS, SE, DENOEUD, F, LAGARDE, J, DRENKOW, J, KAPRANOV, P, GINGERAS, TR, GUIGO, R, SNYDER, M, GERSTEIN, MB

Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome
HUMAN BRAIN MAPPING
2007 vol. 28 pp. 533-542
GOTHELF D, HOEFT F, HINARD C, HALLMAYER JF, STOECKER JV, ANTONARAKIS S, MORRIS MA, REISS AL

Eplistatic interactions with a conunon hypomorphlic ret allele in syndromic Hirschsprung disease
HUMAN MUTATION
2007 vol. 28 pp. 790-796
DE PONTUAL, L, PELET, A, CLEMENT-ZIZA, M, TROCHET, D, ANTONARAKIS, SE, ATTIE-BITACH, T, BEALES, PL, BLOUIN, JL, MOAL, FDL, DOLLFUS, H, GOOSSENS, M, KATSANIS, N, TOURAINE, R, FEINGOLD, J, MUNNICH, A, LYONNET, S, AMIEL, J

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
NATURE
2007 vol. 447 pp. 799-816
ENCODE PROJECT CONS. ET AL

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
NATURE REVIEWS GENETICS
2007 vol. 8 pp. 639-646
BECKMANN, JS, ESTIVILL, X, ANTONARAKIS, SE

Promoter polymorphisms and allelic imbalance in ABCB1 expression
PHARMACOGENETICS AND GENOMICS
2007 vol. 17(11) pp. 951-959
LOEUILLET CORINNE ET AL.

Early history of mammals is elucidated with the ENCODE multiple species sequencing data
PLOS GENETICS
2007 vol. 3(1) pp. 2-
NIKOLAEV SERGEY, MONTOYA-BURGOS JUAN I., MARGULIES ELLIOTT H., NISC, ROUGEMONT JACQUES, NYFFELER BRUNO, ANTONARAKIS STYLIANOS E.

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2007 vol. 104(51) pp. 20443-20448
NIKOLAEV SERGEY I, MONTOYA-BURGOS JUAN I, POPADIN KONSTANTIN, PARAND LEILA, MARGULIES ELLIOTT H., NATIONAL INST OF HEALTH INTRA., ANTONARAKIS STYLIANOS E.

The implications of alternative splicing in the ENCODE protein complement
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2007 vol. 104 pp. 5495-5500
TRESS, ML, MARTELLI, PL, FRANKISH, A, REEVES, GA, WESSELINK, JJ, YEATS, C, OLASON, PI, ALBRECHT, M, HEGYI, H, GIORGETTI, A, RAIMONDO, D, LAGARDE, J, LASKOWSKI, RA, LOPEZ, G, SADOWSKI, MI, WATSON, JD, FARISELLI, P, ROSSI, I, NAGY, A, KAI, W, STORLING, Z

A whole-genome association study of major determinants for host control of HIV-1
SCIENCE
2007 vol. 317 pp. 944-947
FELLAY, J, SHIANNA, KV, GE, DL, COLOMBO, S, LEDERGERBER, B, WEALE, M, ZHANG, KL, GUMBS, C, CASTAGNA, A, COSSARIZZA, A, COZZI-LEPRI, A, DE LUCA, A, EASTERBROOK, P, FRANCIOLI, P, MALLAL, S, MARTINEZ-PICADO, J, MIRO, JM, OBEL, N, SMITH, JP, WYNIGER, J, DESCOMBES, P

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34
AMERICAN JOURNAL OF HUMAN GENETICS
2006 vol. 79(3) pp. 580-585
RADHAKRISHNA UPPALA ET AL.

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
AMERICAN JOURNAL OF HUMAN GENETICS
2006 vol. 79(2) pp. 332-341
MERLA GIUSEPPE ET AL.

"Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis"
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2006 vol. 140 pp. 1440-1446
NAVEED M, AL-ALI MT, MURTHY SK, AL-HAJALI S, AL-KHAJA N, DEUTSCH S, BOTTANI A, ANTONARAKIS SE, NATH SK, RADHAKRISHNA U

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2006 vol. 140(13) pp. 1375-1383
EVERMAN DAVID B. ET AL.

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2006 vol. 140 pp. 1384-1395
LYLE R, RADHAKRISHNA U, BLOUIN JL, GAGOS S, EVERINAN DB, GEHRIG C, DELOZIER-BLANCHET C, SOLANKI JV, PATEL UC, NATH SK, GURRIERI F, NERI G, SCHWARTZ CE, ANTONARAKIS SE

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome
AMERICAN JOURNAL OF PSYCHIATRY
2006 vol. 163(3) pp. 537-539
GLASER B, DEBBANE M, HINARD C, MORRIS MA, DAHOUN SP, ANTONARAKIS SE, ELIEZ S

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
2006 vol. 174 pp. 120-126
HORNEF N, OLBRICH H, HORVATH J, ZARIWALA MA, FLIEGAUF M, LOGES NT, WILDHABER J, NOONE PG, KENNEDY M, ANTONARAKIS SE, BLOUIN JL, BARTOLONI L, NUSSLEIN T, AHRENS P, GRIESE M, KUHL H, SUDBRAK R

Six cases of cryptic subtelomeric translocations in four families: The use of subtelomeric fish probes as a diagnostic tool
GENETIC COUNSELING
2006 vol. 17 pp. 15-28
PAOLONI-GIACOBINO A, DAHOUN S, BRIAULT S, CHALUMEAU A, TILLS M, MORRAINE C, LESPINASSE J

GENCODE: producing a reference annotation for ENCODE
GENOME BIOLOGY
2006 vol. 7 Suppl 1 pp. 1-9
HARROW JENNIFER ET AL.

Tandem chimerism as a means to increase protein complexity in the human genome
GENOME RESEARCH
2006 vol. 16 pp. 37-44
PARRA G, REYMOND A, DABBOUSEH N, DERMITZAKIS ET, CASTELO R, THOMSON TM, ANTONARAKIS SE, GUIGO R

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
JOURNAL OF MEDICAL GENETICS
2006 vol. 43 pp. 266-273
HOWALD C, MERLA G, DIGILIO MC, AMENTA S, LYLE R, DEUTSCH S, CHOUDHURY U, BOTTANI A, ANTONARAKIS SE, FRYSSIRA H, DALLAPICCOLA B, REYMOND A

Conserved noncoding sequences are selectively constrained and not mutation cold spots
NATURE GENETICS
2006 vol. 38(2) pp. 223-227
DRAKE JARED A. ET AL.

Mendelian disorders deserve more attention
NATURE REVIEWS GENETICS
2006 vol. 7(4) pp. 277-282
ANTONARAKIS STYLIANOS E., BECKMANN JACQUES S.

Opinion - Mendelian disorders deserve more attention
NATURE REVIEWS GENETICS
2006 vol. 7 pp. 277-282
ANTONARAKIS SE, BECKMANN JS

The challenge of Down syndrome
TRENDS IN MOLECULAR MEDICINE
2006 vol. 12 pp. 473-479
ANTONARAKIS SE, EPSTEIN CJ

Gene finding in the chicken genome.
BMC BIOINFORMATICS [COMPUTER FILE]
2005 vol. 6 pp. 131-131
EYRAS E ET AL.

LRP5 gene polymorphisms and idiopathic osteoporosis in men.
BONE
2005 vol. 37(6) pp. 770-775
FERRARI SERGE LIVIO, DEUTSCH ESCALANTE SAMUEL, BAUDOIN C, COHEN-SOLAL M, OSTERTAG A, ANTONARAKIS STYLIANOS, DE VERNEJOUL MC, RIZZOLI RENE

Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor
CLINICAL PHARMACOLOGY & THERAPEUTICS
2005 vol. 78 pp. 656-663
LANDAU CAHANA RUTH, MORALES MICHEL, ANTONARAKIS STYLIANOS, BLOUIN JEAN-LOUIS, SMILEY RICHARD MARK

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.
CURRENT OPINION IN LIPIDOLOGY
2005 vol. 16(2) pp. 207-214
FERRARI SERGE LIVIO, DEUTSCH ESCALANTE SAMUEL, ANTONARAKIS STYLIANOS

Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter.
EMBO REPORTS
2005 vol. 6(10) pp. 956-960
LEUPIN OLIVIER, ATTANASIO CATIA, MARGUERAT SAMUEL, TAPERNOUX MYRIAM, ANTONARAKIS STYLIANOS, CONRAD BERNARD

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
HUMAN GENETICS
2005 vol. 117(6) pp. 528-535
WATTENHOFER MARIE ET AL.

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
HUMAN MOLECULAR GENETICS
2005 vol. 14(23) pp. 3741-3749
DEUTSCH SAMUEL ET AL.

LKB1 interacts with and phosphorylates PTEN : a functional link between two proteins involved in cancer predisposing syndromes
HUMAN MOLECULAR GENETICS
2005 vol. 14 pp. 2209-2219
MEHENNI HAMID, MARQ-LIN NATHALIE, BUCHET-POYAU K, REYMOND ALEXANDRE, COLLART MARTINE, PICARD DIDIER, ANTONARAKIS STYLIANOS

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.
HUMAN MOLECULAR GENETICS
2005 vol. 14 pp. 373-384
DAUPHINOT L. ET AL.

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
HUMAN MUTATION
2005 vol. 25 pp. 543-549
CHAROLLAIS ANNE, CAILLE CHOFFAT DOROTHEE, BOREL CHRISTELLE, LYLE ROBERT, MEDA PAOLO, ANTONARAKIS STYLIANOS

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalin
MOLECULAR GENETICS AND GENOMICS
2005 vol. 273(2) pp. 184-196
MARQ-LIN NATHALIE, BOREL CHRISTELLE, ANTONARAKIS STYLIANOS

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome
NATURE NEUROSCIENCE
2005 vol. 8 pp. 1500-1502
GOTHELF, DORON, ELIEZ STEPHAN, THOMPSON, TRACY, HINARD, CHRISTINE, PENNIMAN, LAUREN, FENSTEIN, CARL, KWON, HOWER, JIN, SHUTING, JO, BOOIL, ANTONARAKIS STYLIANOS, MORRIS MICHAEL, REISS, ALLAN L.

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
PLOS GENETICS
2005 vol. 1(4) pp. 47-47
BONAFÉ LUISA ET AL.

Genome-wide associations of gene expression variation in humans
PLOS GENETICS
2005 vol. 1(6) pp. 78-78
STRANGER BARBARA E. ET AL.

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
AMERICAN JOURNAL OF HUMAN GENETICS
2004 vol. 74 pp. 866-875
FERRARI SL, DEUTSCH S, CHOUDHURY U, CHEVALLEY T, BONJOUR JP, DERMITZAKIS ET, RIZZOLI R, ANTONARAKIS SE

No association between DUP25 and anxiety disorders
AMERICAN JOURNAL OF MEDICAL GENETICS
2004 vol. 128 pp. 80-83
HENRICHSEN CN, DELORME R, BOUCHERIE MARIA, MARELLI D, BAUD PATRICK, BELLIVIER F, COURTET P, CHABANE N, HENRY C, LEBOYER M, MALAFOSSE ALAIN, ANTONARAKIS STYLIANOS, DAHOUN SOPHIE

Genetic variability of m-opioid receptor in an obstetric population.
ANESTHESIOLOGY
2004 vol. pp. 1030-1033
LANDAU CAHANA RUTH, CAHANA ALEX, SMILEY RICHARD M., ANTONARAKIS STYLIANOS, BLOUIN JEAN-LOUIS

A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.
ANNALS OF NEUROLOGY
2004 vol. pp. 382-388
DAUVILLIERS Y, BLOUIN JEAN-LOUIS, NEIDHART E, CARLANDER B, ELIAOU JF, ANTONARAKIS STYLIANOS, BILLIARD M, TAFTI MEHDI

Chromosome 21 and Down syndrome: the post-sequence era.
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
2004 vol. pp. 425-430
ANTONARAKIS STYLIANOS, REYMOND ALEXANDRE, LYLE ROBERT, DEUTSCH S, DERMITZAKIS MT

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.
GENOME RESEARCH
2004 vol. pp. 852-859
DERMITZAKIS ET, KIRKNESS E, SCHWARZ S, BIRNEY E, REYMOND ALEXANDRE, ANTONARAKIS STYLIANOS

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome.
GENOME RESEARCH
2004 vol. pp. 1268-1274
LYLE ROBERT, GEHRIG C, HENRICHSEN C, DEUTSCH S, ANTONARAKIS STYLIANOS

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.
GENOMICS
2004 vol. pp. 320-330
MENZEL OLIVIER, VELLAI T, TAKACS-VELLAI K, REYMOND ALEXANDRE, MUELLER F, ANTONARAKIS STYLIANOS, GUIPPONI MICHEL

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.
HUMAN MOLECULAR GENETICS
2004 vol. 14(3) pp. 373-384
DAUPHINOT L ET AL.

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.
HUMAN MOLECULAR GENETICS
2004 vol. pp. 1505-1514
MERLA G, HOWALD C, ANTONARAKIS STYLIANOS, REYMOND ALEXANDRE

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
HUMAN MUTATION
2004 vol. 23 pp. 77-84
MENZEL OLIVIER, BEKKEHEIEN RC ET AL.

Association of the connexin36 gene with juvenile myoclonic epilepsy
JOURNAL OF MEDICAL GENETICS
2004 vol. 41 pp. 93-
MAS C, TASKE N, DEUTSCH S, GUIPPONI M, THOMAS P, CAVANIS A, FRIIS M, KJELDSEN MJ, PIZZOLATO GP, VILLEMURE JG, BURESI C, REES M, MALAFOSSE A, GARDINER M, ANTONARAKIS SE, MEDA P

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution.
NATURE
2004 vol. pp. 695-716
HILLIER LW ET AL.

Chromosome 21 and down syndrome: from genomics to pathophysiology.
NATURE REVIEWS. GENETICS
2004 vol. pp. 725-738
ANTONARAKIS STYLIANOS, LYLE ROBERT, DERMITZAKIS ET, REYMOND ALEXANDRE, DEUTSCH S

The ENCODE project Consortium
SCIENCE
2004 vol. pp. 636-640
FEINGOLD EA ET AL.

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Genome scan meta -analysis of schizophrenia and bipolar disorder, part II: Schizophrenia.
AMERICAN JOURNAL OF HUMAN GENETICS
2003 vol. pp. 34-48
LEWIS CM ET AL.

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.
AMERICAN JOURNAL OF HUMAN GENETICS
2003 vol. pp. 49-62
SEGURADO R ET AL.

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
AMERICAN JOURNAL OF MEDICAL GENETICS
2003 vol. 117A pp. 143-146
FOKSTUEN S, ANTONARAKIS SE, BLOUIN JL

Specific BACE1 genotypes provide additional risk for late-onset alzheimer disease in APOE varepsilon 4 carriers
AMERICAN JOURNAL OF MEDICAL GENETICS
2003 vol. 119B pp. 44-47
GOLD G, BLOUIN JL, HERRMANN FR, MICHON A, MULLIGAN R, DURIAUX SAIL G, BOURAS C, GIANNAKOPOULOS P, ANTONARAKIS SE

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
2003 vol. 1640 pp. 61-68
PRUITT WM, KARNOUB AE, RAKAUSKAS AC, GUIPPONI M, ANTONARAKIS SE, KURAKIN A, KAY BK, SONDEK J, SIDEROVSKI DP, DER CJ

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
BLOOD
2003 vol. 102 pp. 529-534
DEUTSCH S, RIDEAU A, BOCHATON-PIALLAT ML, MERLA G, GEINOZ A, GABBIANI G, SCHWEDE T, MATTHES T, ANTONARAKIS SE, BERIS P

Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)
BLOOD
2003 vol. 101 pp. 1851-1856
ATTANASIO C, DAVID A, NEERMAN-ARBEZ M

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.
BLOOD
2003 vol. 101 pp. 3492-3494
NEERMAN-ARBEZ M, VU D, ABU-LIBDEH B, BOUCHARDY I, MORRIS MA

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
CYTOGENETIC AND GENOME RESEARCH
2003 vol. pp. 213-223
LALIOTI MD, ANTONARAKIS SE, SCOTT HS

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene 320:31-40.
GENE
2003 vol. 320 pp. 31-40
FRIEDLI B, GUIPPONI M, BERTRAND S, BERTRAND D, NEERMAN-ARBEZ M, SCOTT HS, ANTONARAKIS SE, REYMOND A

The TPTE gene family: cellular expression, subcellular localization and alternative splicing.
GENE
2003 vol. pp. 189-199
TAPPAREL C, REYMOND A, GIRARDET C, GUILLOU L, LYLE R, LAMON C, HUTTET P, ANTONARAKIS SE

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome
HUMAN GENETICS
2003 vol. 112 pp. 103-103
DRIESS S, FREESE K, BORNHOLDT D, KOBELT A, KRESS W, MORTIER G, RADHAKRISHNA U, ANTONARAKIS SE, RAUCH A, SURI M, VERHEIJ JB, WOERLE H, GRZESCHIK KH, KALFF-SUSKE M

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
HUMAN MOLECULAR GENETICS
2003 vol. pp. 1959-1971
DE MOLLERAT XJ ET AL.

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
HUMAN MUTATION
2003 vol. pp. 404-408
WEINHAEUSEL A, MORRIS MA, ANTONARAKIS SE, HAAS OA

Trapping and sequence analysis of 1138 putative exons from human chromosome 18.
MOLECULAR PSYCHIATRY
2003 vol. pp. 619-623
CHEN H ET AL.

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2003 vol. 100 pp. 1140-1145
GUIDO R, DERMITZAKIS ET, AGARWAL P, PONTING CP, PARRA G, REYMOND A, ABRIL JF, KEIBLER E, LYLE R, UCLA C, ANTONARAKIS SE, BRENT MR

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).
SCIENCE
2003 vol. pp. 1033-1035
DERMITZAKIS ET, REYMOND A, SCAMUFFA N, UCLA C, ROSSIER C, ANTONARAKIS SE

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
BLOOD
2002 vol. 99 pp. 1364-1372
MICHAUD J, WU F, OSATO M, COTTLES GM, YANAGIDA M, ASOU N, SHIGESADA K, ITO Y, BENSON KF, RASKIND WH, ROSSIER C, ANTONARAKIS SE, ISRAELS S, MCNICOL A, WEISS H, HORWITZ M, SCOTT HS

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
CYTOGENETIC AND GENOME RESEARCH
2002 vol. 97 pp. 171-178
BUCHET-POYAU K, MEHENNI H, RADHAKRISHNA U, ANTONARAKIS SE

Nineteen additional unpredicted transcripts from the human chromosome 21
GENOMICS
2002 vol. 79 pp. 824-832
REYMOND A, A.A. CAMARGO, DEUTSCH S, B.J. STEVENSON, R.B. PARMIGIANI, UCLA C, F. BETTONI, ROSSIER C, LYLE R, GUIPPONI M, C. ISELI, C.V. JONGENEEL, P. BUCHER, S. DE SOUZA, A.J.G. SIMPSON, ANTONARAKIS SE

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors
HUMAN GENETICS
2002 vol. 111 pp. 284-289
PAOLONI GIACOBINO A, REY-BERTHOD C, COUTURIER A, ANTONARAKIS SE, HUTTER P

Identification of additional transcripts in the Williams-Beuren syndrome critical region
HUMAN GENETICS
2002 vol. 110 pp. 429-438
MERLA G, UCLA C, GUIPPONI M, REYMOND A

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel(ENaC) in vitro
HUMAN MOLECULAR GENETICS
2002 vol. 11(23) pp. 2829-2836
GUIPPONI M, VUAGNIAUX G, WATTENHOFER M, SHIBUYA K, VAZQUEZ M, DOUGHERTY L, SCAMUFFA N, GUIDA E, OKUI M, ROSSIER C, HANCOCK M, BUCHET K, REYMOND A, HUMMLER E, MARZELLA PL, KUDOH J, SHIMIZU N, SCOTT HS, ANTONARAKIS SE, ROSSIER BC

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
2002 vol. 46 pp. 89-96
ANTONARAKIS SE, LYLE R, DEUTSCH S, REYMOND A

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
JOURNAL OF MOLECULAR MEDICINE
2002 vol. 80(2) pp. 124-131
WATTENHOFER M, DI IORIO MV, RABIONET R, DOUGHERTY L, PAMPANOS A, SCHWEDE T, MONTSERRAT-SENTIS B, ARBONES ML, ILIADES T, ALWAN S, D'AMELIO M, DAHL HH, ESTIVILL X, GASPARINI P, PASQUADIBISCEGLIE A, PETERSEN MB, ROSSIER C, SCOTT HS, ANTONARAKIS SE

Language skills in children with velocardiofacial syndrome (deletion 22q11.2)
JOURNAL OF PEDIATRICS
2002 vol. 140 pp. 753-758
GLASER B, MUMME DL, BLASEY C, MORRIS MA, DAHOUN SP, ANTONARAKIS SE, REISS AL, ELIEZ S

Human chromosome 21 gene expression atlas in the mouse
NATURE
2002 vol. 420 pp. 582-586
REYMOND A, V. MARIGO, M.B. YAYLAOGLU, A. LEONI, SCAMUFFA N, UCLA C, C. CACCIOPPOLI, DERMITZAKIS ET, LYLE R, S. BANFI, G. EICHELE, ANTONARAKIS SE, BALLABIO A

Initial sequencing and comparative analysis of the mouse genome
NATURE
2002 vol. 420 pp. 520-562
WATERSTON RH, LINDBLAD-TOH K, ANTONARAKIS SE, DERMITZAKIS ET, ET AL., REYMOND A, UCLA C, ZODY MC, E.S. LANDER

Numerous potentially functional but non-genic conserved sequences on human chromosome 21
NATURE
2002 vol. 420 pp. 578-582
DERMITZAKIS ET, REYMOND A, LYLE R, SCAMUFFA N, UCLA C, DEUTSCH S, B.J. STEVENSON, V. FLEGEL, P. BUCHER, C.V. JONGENEEL., ANTONARAKIS SE

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2002 vol. 99 pp. 10282-10286
BARTOLONI L, BLOUIN JL, PAN Y, GEHRIG C, MAITI AK, SCAMUFFA N, ROSSIER C, JORISSEN M, ARMENGOT M, MEEKS M, MITCHISON HM, CHUNG EM, DELOZIER-BLANCHET CD, CRAIGEN WJ, ANTONARAKIS SE

BACking up the promises.
NATURE GENETICS
2001 vol. 27 pp. 230-232
ANTONARAKIS SE

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and chiuldhood onset autosomal recessive deafness.
NATURE GENETICS
2001 vol. 27 pp. 59-63
SCOTT HS, KUDOH J, WATTENHOFER M, SHIBUYA K, BERRY A, CHRAST R, GUIPPONI M, WANG J, KAWASAKI K, ASAKAWA S, MINOSHIMA S, YOUNUS F

Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency
BLOOD
1999 vol. 93 pp. 2253-2260
NEERMAN-ARBEZ M, JOHNSON KM, MORRIS M, MCVEY J, PEYVANDI F, NICHOLS W, GINSBURG D, ROSSIER C, ANTONARAKIS SE, TUDDENHAM E

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Domaines de recherche

BIOLOGIE MOLECULAIRE
MALADIES GENETIQUES
GENOMIQUE FONCTIONNELLE
GENETIQUE MOLECULAIRE
GENOMIQUE
BIOLOGIE DU DEVELOPPEMENT