Toutes les publications de l'équipe du Dr Bardoni
131   Delhaye S., Jarjat M., Boulksibat A., Sanchez C., Tempio A., Turtoi A., Giorgi M., Lacas-Gervais S., Baj G., Rovere C., Trezza V., Pellegrini M., Maurin T., Lalli E. and Bardoni B. (2023). Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of phosphodiesterase 2 a. Neurobiol Dis, () : 106393

130   Thomazeau A., Lassalle O. and Manzoni O.J. (2023). Glutamatergic synaptic deficits in the prefrontal cortex of the Ts65Dn mouse model for Down syndrome. Front Neurosci, 17 () : 1171797

129   Hayden D.J., Finnie PS.B., Thomazeau A., Li A.Y., Cooke S.F. and Bear M.F. (2023). Electrophysiological signatures of visual recognition memory across all layers of mouse V1. J Neurosci, () :

128   Tempio A., Boulksibat A., Bardoni B. and Delhaye S. (2023). Fragile X Syndrome as an interneuronopathy: a lesson for future studies and treatments. Front Neurosci, 17 () : 1171895

127   Kieffer F., Hilal F., Gay A.S., Debayle D., Pronot M., Poupon G., Lacagne I., Bardoni B., Martin S. and Gwizdek C. (2022). Combining affinity purification and mass spectrometry to define the network of the nuclear proteins interacting with the N-terminal region of FMRP. Front Mol Biosci, 9 () : 954087

126   Schiavi S., Carbone E., Melancia F., di Masi A., Jarjat M., Brau F., Cardarelli S., Giorgi M., Bardoni B. and Trezza V. (2022). Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder. Transl Psychiatry, 12 (1) : 119

125   Drozd M.M., Capovilla M., Previderé C., Grossi M., Askenazy F., Bardoni B. and Fernandez A. (2021). A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology. Front Genet, 12 () : 792218

124   Bach S., Shovlin S., Moriarty M., Bardoni B. and Tropea D. (2021). Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions. Front Cell Neurosci, 15 () : 764761

123   Di Marco B., Dell'Albani P., D'Antoni S., Spatuzza M., Bonaccorso C.M., Musumeci S.A., Drago F., Bardoni B. and Catania M.V. (2021). Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes. Neurobiol Dis, 154 () : 105338

122   Fernandez A., Drozd M., Thümmler S., Bardoni B., Askenazy F. and Capovilla M. (2021). A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder. Am J Med Genet A, () :

121   Prieto M., Folci A., Poupon G., Schiavi S., Buzzelli V., Pronot M., François U., Pousinha P., Lattuada N., Abelanet S., Castagnola S., Chafai M., Khayachi A., Gwizdek C., Brau F., Deval E., Francolini M., Bardoni B., Humeau Y., Trezza V. and Martin S. (2021). Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice. Nat Commun, 12 (1) : 1557

120   Gwizdek C., Bardoni B. and Rage F. (2020). Editorial: "Role of Ribonucleoprotein Complexes in Neurodevelopment and in the Physiopathology of Neurological Diseases". Front Mol Biosci, 7 () : 630498

119   Delhaye S. and Bardoni B. (2021). Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders. Mol Psychiatry, () :

118   Castagnola S., Cazareth J., Lebrigand K., Jarjat M., Magnone V., Delhaye S., Brau F., Bardoni B. and Maurin T.O. (2020). Agonist-induced Functional Analysis and Cell Sorting coupled with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain. Genome Res, () :

117   Suranyi G., Capovilla M., Metelkina-Fernandez V., Askenazy F. and Fernandez A. (2020). Mayer-Rokitansky-Küster-Hauser Syndrome and Psychiatric Conditions: Toward the Importance of a Genetic Link. Psychosomatics, () :

116   Fernandez A., Drozd M.M., Thummler S., Dor E., Capovilla M., Askenazy F. and Bardoni B. (2019). Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era. Front Genet, 10 () : 1137

115   Drozd M., Delhaye S., Maurin T., Castagnola S., Grossi M., Brau F., Jarjat M., Willemsen R., Capovilla M., Hukema R.K., Lalli E. and Bardoni B. (2019). Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS. Mol Ther Nucleic Acids, 18 () : 546-553

114   Maurin T. and Bardoni B. (2018). Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer. Front Mol Biosci, 5 () : 113

113   Castagnola S., Delhaye S., Folci A., Paquet A., Brau F., Duprat F., Jarjat M., Grossi M., Beal M., Martin S., Mantegazza M., Bardoni B. and Maurin T. (2018). New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons. Front Mol Neurosci, 11 () : 342

112   Maurin T., Melancia F., Jarjat M., Castro L., Costa L., Delhaye S., Khayachi A., Castagnola S., Mota E., Di Giorgio A., Servadio M., Drozd M., Poupon G., Schiavi S., Sardone L., Azoulay S., Ciranna L., Martin S., Vincent P., Trezza V. and Bardoni B. (2018). Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome. Cereb Cortex, () :

111   Fernandez A., Dor E., Maurin T., Laure G., Menard M.L., Drozd M., Poinso F., Bardoni B., Askenazy F. and Thummler S. (2018). Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss). BMJ Open, 8 (7) : e023330

110   Drozd M., Bardoni B. and Capovilla M. (2018). Modeling Fragile X Syndrome in Drosophila. Front Mol Neurosci, 11 () : 124

109   Maurin T., Lebrigand K., Castagnola S., Paquet A., Jarjat M., Popa A., Grossi M., Rage F. and Bardoni B. (2018). HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein. Nucleic Acids Res, 46 (12) : 6344-6355

108   Khayachi A., Gwizdek C., Poupon G., Alcor D., Chafai M., Casse F., Maurin T., Prieto M., Folci A., De Graeve F., Castagnola S., Gautier R., Schorova L., Loriol C., Pronot M., Besse F., Brau F., Deval E., Bardoni B. and Martin S. (2018). Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation. Nat Commun, 9 (1) : 757

107   Castagnola S., Bardoni B. and Maurin T. (2017). The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality? Front Synaptic Neurosci, 9 () : 15

106   Capovilla M., Robichon A. and Rassoulzadegan M. (2017). A new paramutation-like example at the Delta gene of Drosophila. PLoS One, 12 (3) : e0172780

105   Rihan K., Antoine E., Maurin T., Bardoni B., Bordonne R., Soret J. and Rage F. (2017). A new cis-acting motif is required for the axonal SMN-dependent Anxa2 mRNA localization. RNA, () :

104   Bardoni B., Capovilla M. and Lalli E. (2017). Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies. Neurogenesis (Austin), 4 (1) : e1270384

103   Abekhoukh S., Sahin H.B., Grossi M., Zongaro S., Maurin T., Madrigal I., Kazue-Sugioka D., Raas-Rothschild A., Doulazmi M., Carrera P., Stachon A., Scherer S., Drula Do Nascimento M.R., Trembleau A., Arroyo I., Szatmari P., Smith I.M., Mila M., Smith A.C., Giangrande A., Caille I. and Bardoni B. (2017). New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes. Dis Model Mech, 10 (4) : 463-474

102   Khalfallah O., Jarjat M., Davidovic L., Nottet N., Cestele S., Mantegazza M. and Bardoni B. (2017). Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis. Stem Cells, 35 (2) : 374-385

101   Verrando P., Capovilla M. and Rahmani R. (2016). Trans-nonachlor decreases miR-141-3p levels in human melanocytes in vitro promoting melanoma cell characteristics and shows a multigenerational impact on miR-8 levels in Drosophila. Toxicology, 368-369 () : 129-141

100   Tabet R., Moutin E., Becker J.A., Heintz D., Fouillen L., Flatter E., Krezel W., Alunni V., Koebel P., Dembele D., Tassone F., Bardoni B., Mandel J.L., Vitale N., Muller D., Le Merrer J. and Moine H. (2016). Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proc Natl Acad Sci U S A, 113 (26) : E3619-28

99   Raad H., Ferveur J.F., Ledger N., Capovilla M. and Robichon A. (2016). Functional Gustatory Role of Chemoreceptors in Drosophila Wings. Cell Rep, 15 (7) : 1442-1454

98   Vicario A., Colliva A., Ratti A., Davidovic L., Baj G., Gricman L., Colombrita C., Pallavicini A., Jones K.R., Bardoni B. and Tongiorgi E. (2015). Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins. Front Mol Neurosci, 8 () : 62

97   Valmalette J.C., Raad H., Qiu N., Ohara S., Capovilla M. and Robichon A. (2015). Nano-architecture of gustatory chemosensory bristles and trachea in Drosophila wings. Sci Rep, 5 () : 14198

96   Maurin T., Melko M., Abekhoukh S., Khalfallah O., Davidovic L., Jarjat M., D'Antoni S., Catania M.V., Moine H., Bechara E. and Bardoni B. (2015). The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum. Nucleic Acids Res, 43 (17) : 8540-50

95   Bonaccorso C.M., Spatuzza M., Di Marco B., Gloria A., Barrancotto G., Cupo A., Musumeci S.A., D'Antoni S., Bardoni B. and Catania M.V. (2015). Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development. Int J Dev Neurosci, 42 () : 15-23

94   Schertzer M., Jouravleva K., Perderiset M., Dingli F., Loew D., Le Guen T., Bardoni B., de Villartay J.P., Revy P. and Londono-Vallejo A. (2015). Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. Nucleic Acids Res, 43 (3) : 1834-47

93   Pasquier C., Clément M., Dombrovsky A., Penaud S., Da Rocha M., Rancurel C., Ledger N., Capovilla M. and Robichon A. (2014). Environmentally selected aphid variants in clonality context display differential patterns of methylation in the genome. PLoS One, 9 (12) : e115022

92   Ricceri L., Catania M.V. and Bardoni B. (2014). Editorial: neural and behavioral biology of intellectual disability (ID). Neurosci Biobehav Rev, 46 Pt 2 () : 159-60

91   Matic K., Eninger T., Bardoni B., Davidovic L. and Macek B. (2014). Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms. J Proteome Res, 13 (10) : 4388-97

90   Abekhoukh S. and Bardoni B. (2014). CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome. Front Cell Neurosci, 8 () : 81

89   Tevy M.F., Seyres D., Traina C., Perrin L. and Capovilla M. (2014). Ndae1 expression and regulation in Drosophila embryos. PLoS One, 9 (3) : e92956

88   Maurin T., Zongaro S. and Bardoni B. (2014). Fragile X Syndrome: from molecular pathology to therapy. Neurosci Biobehav Rev, 46 Pt 2 () : 242-55

87   Ugolotti R., Mesejo P., Zongaro S., Bardoni B., Berto G., Bianchi F., Molineris I., Giacobini M., Cagnoni S. and Di Cunto F. (2013). Visual search of neuropil-enriched RNAs from brain in situ hybridization data through the image analysis pipeline hippo-ATESC. PLoS One, 8 (9) : e74481

86   Melko M., Nguyen L.S., Shaw M., Jolly L., Bardoni B. and Gecz J. (2013). Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. Hum Mol Genet, 22 (15) : 2984-91

85   Davidovic L., Durand N., Khalfallah O., Tabet R., Barbry P., Mari B., Sacconi S., Moine H. and Bardoni B. (2013). A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability. PLoS Genet, 9 (3) : e1003367

84   Zongaro S., Hukema R., D'Antoni S., Davidovic L., Barbry P., Catania M.V., Willemsen R., Mari B. and Bardoni B. (2013). The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse. Hum Mol Genet, 22 (10) : 1971-82

83   Bardoni B., Abekhoukh S., Zongaro S. and Melko M. (2012). Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario. Prog Brain Res, 197 () : 29-51

82   Amodio V., Tevy M.F., Traina C., Ghosh T.K. and Capovilla M. (2012). Transactivation in Drosophila of human enhancers by human transcription factors involved in congenital heart diseases. Dev Dyn, 241 (1) : 190-9

81   Davidovic L., Navratil V., Bonaccorso C.M., Catania M.V., Bardoni B. and Dumas M.E. (2011). A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model. Genome Res, 21 (12) : 2190-202

80   Arthaud L., Rokia-Mille S.B., Raad H., Dombrovsky A., Prevost N., Capovilla M. and Robichon A. (2011). Trade-off between toxicity and signal detection orchestrated by frequency- and density-dependent genes. PLoS One, 6 (5) : e19805

79   Melko M., Douguet D., Bensaid M., Zongaro S., Verheggen C., Gecz J. and Bardoni B. (2011). Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Hum Mol Genet, 20 (10) : 1873-85

78   Melko M. and Bardoni B. (2010). The role of G-quadruplex in RNA metabolism: involvement of FMRP and FMR2P. Biochimie, 92 (8) : 919-26

77   Khalfallah O., Rouleau M., Barbry P., Bardoni B. and Lalli E. (2009). Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation. Stem Cells, 27 (7) : 1529-37

76   Bechara E.G., Didiot M.C., Melko M., Davidovic L., Bensaid M., Martin P., Castets M., Pognonec P., Khandjian E.W., Moine H. and Bardoni B. (2009). A novel function for fragile X mental retardation protein in translational activation. PLoS Biol, 7 (1) : e16

75   Bensaid M., Melko M., Bechara E.G., Davidovic L., Berretta A., Catania M.V., Gecz J., Lalli E. and Bardoni B. (2009). FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Res, 37 (4) : 1269-79

74   Monier B., Tevy M.F., Perrin L., Capovilla M. and Sémériva M. (2007). Downstream of homeotic genes: in the heart of Hox function. Fly (Austin), 1 (2) : 59-67

73   Davidovic L., Sacconi S., Bechara E.G., Delplace S., Allegra M., Desnuelle C. and Bardoni B. (2008). Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. J Med Genet, 45 (10) : 679-85

72   Boulon S., Marmier-Gourrier N., Pradet-Balade B., Wurth L., Verheggen C., Jady B.E., Rothe B., Pescia C., Robert M.C., Kiss T., Bardoni B., Krol A., Branlant C., Allmang C., Bertrand E. and Charpentier B. (2008). The Hsp90 chaperone controls the biogenesis of L7Ae RNPs through conserved machinery. J Cell Biol, 180 (3) : 579-95

71   Davidovic L., Jaglin X.H., Lepagnol-Bestel A.M., Tremblay S., Simonneau M., Bardoni B. and Khandjian E.W. (2007). The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. Hum Mol Genet, 16 (24) : 3047-58

70   Bechara E., Davidovic L., Melko M., Bensaid M., Tremblay S., Grosgeorge J., Khandjian E.W., Lalli E. and Bardoni B. (2007). Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure. Nucleic Acids Res, 35 (1) : 299-306

69   Kim Y., Sung J.Y., Ceglia I., Lee K.W., Ahn J.H., Halford J.M., Kim A.M., Kwak S.P., Park J.B., Ho Ryu S., Schenck A., Bardoni B., Scott J.D., Nairn A.C. and Greengard P. (2006). Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology. Nature, 442 (7104) : 814-7

68   Bardoni B., Davidovic L., Bensaid M. and Khandjian E.W. (2006). The fragile X syndrome: exploring its molecular basis and seeking a treatment. Expert Rev Mol Med, 8 (8) : 1-16

67   Davidovic L., Bechara E., Gravel M., Jaglin X.H., Tremblay S., Sik A., Bardoni B. and Khandjian E.W. (2006). The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons. Hum Mol Genet, 15 (9) : 1525-38

66   Ramos A., Hollingworth D., Adinolfi S., Castets M., Kelly G., Frenkiel T.A., Bardoni B. and Pastore A. (2006). The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure, 14 (1) : 21-31

65   Vinciguerra M., Hasler U., Mordasini D., Roussel M., Capovilla M., Ogier-Denis E., Vandewalle A., Martin P.Y. and Feraille E. (2005). Cytokines and sodium induce protein kinase A-dependent cell-surface Na,K-ATPase recruitment via dissociation of NF-kappaB/IkappaB/protein kinase A catalytic subunit complex in collecting duct principal cells. J Am Soc Nephrol, 16 (9) : 2576-85

64   Castets M., Schaeffer C., Bechara E., Schenck A., Khandjian E.W., Luche S., Moine H., Rabilloud T., Mandel J.L. and Bardoni B. (2005). FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet, 14 (6) : 835-44

63   Munier A.I., Medzhitov R., Janeway CA J.r., Doucet D., Capovilla M. and Lagueux M. (2004). graal: a Drosophila gene coding for several mosaic serine proteases. Insect Biochem Mol Biol, 34 (10) : 1025-35

62   Schenck A., Qurashi A., Carrera P., Bardoni B., Diebold C., Schejter E., Mandel J.L. and Giangrande A. (2004). WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Dev Biol, 274 (2) : 260-70

61   Khandjian E.W., Huot M.E., Tremblay S., Davidovic L., Mazroui R. and Bardoni B. (2004). Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles. Proc Natl Acad Sci U S A, 101 (36) : 13357-62

60   Mientjes E.J., Willemsen R., Kirkpatrick L.L., Nieuwenhuizen I.M., Hoogeveen-Westerveld M., Verweij M., Reis S., Bardoni B., Hoogeveen A.T., Oostra B.A. and Nelson D.L. (2004). Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet, 13 (13) : 1291-302

59   Mayne M., Moffatt T., Kong H., McLaren P.J., Fowke K.R., Becker K.G., Namaka M., Schenck A., Bardoni B., Bernstein C.N. and Melanson M. (2004). CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion. Eur J Immunol, 34 (4) : 1217-27

58   Adinolfi S., Ramos A., Martin S.R., Dal Piaz F., Pucci P., Bardoni B., Mandel J.L. and Pastore A. (2003). The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. Biochemistry, 42 (35) : 10437-44

57   Bardoni B., Willemsen R., Weiler I.J., Schenck A., Severijnen L.A., Hindelang C., Lalli E. and Mandel J.L. (2003). NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Exp Cell Res, 289 (1) : 95-107

56   Bardoni B., Castets M., Huot M.E., Schenck A., Adinolfi S., Corbin F., Pastore A., Khandjian E.W. and Mandel J.L. (2003). 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet, 12 (14) : 1689-98

55   Schenck A., Bardoni B., Langmann C., Harden N., Mandel J.L. and Giangrande A. (2003). CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron, 38 (6) : 887-98

54   Merabet S., Kambris Z., Capovilla M., Bérenger H., Pradel J. and Graba Y. (2003). The hexapeptide and linker regions of the AbdA Hox protein regulate its activating and repressive functions. Dev Cell, 4 (5) : 761-8

53   Kambris Z., Hoffmann J.A., Imler J.L. and Capovilla M. (2002). Tissue and stage-specific expression of the Tolls in Drosophila embryos. Gene Expr Patterns, 2 (3-4) : 311-7

52   Kambris Z., Bilak H., D'Alessandro R., Belvin M., Imler J.L. and Capovilla M. (2003). DmMyD88 controls dorsoventral patterning of the Drosophila embryo. EMBO Rep, 4 (1) : 64-9

51   Schenck A., Van de Bor V., Bardoni B. and Giangrande A. (2002). Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein. Neurobiol Dis, 11 (1) : 53-63

50   Bardoni B. and Mandel J.L. (2002). Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev, 12 (3) : 284-93

49   Larizza D., Maraschio P., Bardoni B., Calcaterra V., Manfredi P. and Gemma A. (2002). Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile. Eur J Pediatr, 161 (4) : 224-5

48   Tauszig-Delamasure S., Bilak H., Capovilla M., Hoffmann J.A. and Imler J.L. (2002). Drosophila MyD88 is required for the response to fungal and Gram-positive bacterial infections. Nat Immunol, 3 (1) : 91-7

47   Bardoni B., Schenck A. and Mandel J.L. (2001). The Fragile X mental retardation protein. Brain Res Bull, 56 (3-4) : 375-82

46   Calcaterra V., Larizza D., Maraschio P., Bardoni B., Manfredi P. and Gemma A. (2001). [Genomic imprinting in two adolescent sisters with Turner's syndrome]. Minerva Pediatr, 53 (5) : 499-500

45   Schaeffer C., Bardoni B., Mandel J.L., Ehresmann B., Ehresmann C. and Moine H. (2001). The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J, 20 (17) : 4803-13

44   Schenck A., Bardoni B., Moro A., Bagni C. and Mandel J.L. (2001). A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A, 98 (15) : 8844-9

43   Chen Y., Sittler A., Yu M., Bardoni B. and Wu G. (1998). [Screening of proteins interact with FMR1 by yeast two-hybrid system]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 20 (3) : 173-8

42   Capovilla M., Kambris Z. and Botas J. (2001). Direct regulation of the muscle-identity gene apterous by a Hox protein in the somatic mesoderm. Development, 128 (8) : 1221-30

41   Bardoni B., Mandel J.L. and Fisch G.S. (2000). FMR1 gene and fragile X syndrome. Am J Med Genet, 97 (2) : 153-63

40   Tzou P., Ohresser S., Ferrandon D., Capovilla M., Reichhart J.M., Lemaitre B., Hoffmann J.A. and Imler J.L. (2000). Tissue-specific inducible expression of antimicrobial peptide genes in Drosophila surface epithelia. Immunity, 13 (5) : 737-48

39   Fernandez-Funez P., Nino-Rosales M.L., de Gouyon B., She W.C., Luchak J.M., Martinez P., Turiegano E., Benito J., Capovilla M., Skinner P.J., McCall A., Canal I., Orr H.T., Zoghbi H.Y. and Botas J. (2000). Identification of genes that modify ataxin-1-induced neurodegeneration. Nature, 408 (6808) : 101-6

38   Salat U., Bardoni B., Wohrle D. and Steinbach P. (2000). Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? J Med Genet, 37 (11) : 842-50

37   Lagueux M., Perrodou E., Levashina E.A., Capovilla M. and Hoffmann J.A. (2000). Constitutive expression of a complement-like protein in toll and JAK gain-of-function mutants of Drosophila. Proc Natl Acad Sci U S A, 97 (21) : 11427-32

36   Bardoni B., Giglio S., Schenck A., Rocchi M. and Mandel J.L. (2000). Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. Cytogenet Cell Genet, 89 (1-2) : 11-3

35   Giglio S., Pirola B., Arrigo G., Dagrada P., Bardoni B., Bernardi F., Russo G., Argentiero L., Forabosco A., Carrozzo R. and Zuffardi O. (2000). Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements. Eur J Hum Genet, 8 (1) : 63-70

34   Parigi G.B., Bardoni B., Avoltini V., Caputo M.A. and Bragheri R. (1999). Is bilateral congenital anorchia genetically determined? Eur J Pediatr Surg, 9 (5) : 312-5

33   Bardoni B., Schenck A. and Mandel J.L. (1999). A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Hum Mol Genet, 8 (13) : 2557-66

32   Khandjian E.W., Bardoni B., Corbin F., Sittler A., Giroux S., Heitz D., Tremblay S., Pinset C., Montarras D., Rousseau F. and Mandel J. (1998). Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Hum Mol Genet, 7 (13) : 2121-8

31   Capovilla M. and Botas J. (1998). Functional dominance among Hox genes: repression dominates activation in the regulation of Dpp. Development, 125 (24) : 4949-57

30   Bardoni B., Sittler A., Shen Y. and Mandel J.L. (1997). Analysis of domains affecting intracellular localization of the FMRP protein. Neurobiol Dis, 4 (5) : 329-36

29   Lalli E., Bardoni B., Zazopoulos E., Wurtz J.M., Strom T.M., Moras D. and Sassone-Corsi P. (1997). A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol, 11 (13) : 1950-60

28   Carrozzo R., Arrigo G., Rossi E., Bardoni B., Cammarata M., Gandullia P., Gatti R. and Zuffardi O. (1997). Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. Am J Med Genet, 72 (3) : 329-34

27   Zanaria E., Bardoni B., Dabovic B., Calvari V., Fraccaro M., Zuffardi O. and Camerino G. (1995). Xp duplications and sex reversal. Philos Trans R Soc Lond B Biol Sci, 350 (1333) : 291-6

26   Dabovic B., Zanaria E., Bardoni B., Lisa A., Bordignon C., Russo V., Matessi C., Traversari C. and Camerino G. (1995). A family of rapidly evolving genes from the sex reversal critical region in Xp21. Mamm Genome, 6 (9) : 571-80

25   Qian S., Capovilla M. and Pirrotta V. (1993). Molecular mechanisms of pattern formation by the BRE enhancer of the Ubx gene. EMBO J, 12 (10) : 3865-77

24   Bardoni B., Floridia G., Guioli S., Peverali G., Anichini C., Cisternino M., Casalone R., Danesino C., Fraccaro M., Zuffardi O. and et al... (1993). Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet, 91 (4) : 333-8

23   Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W. and et al... (1994). Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature, 372 (6507) : 672-6

22   Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W., Lalli E., Moser C., Walker A.P., McCabe E.R. and et al... (1994). An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature, 372 (6507) : 635-41

21   Bardoni B., Zanaria E., Guioli S., Floridia G., Worley K.C., Tonini G., Ferrante E., Chiumello G., McCabe E.R., Fraccaro M. and et al... (1994). A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet, 7 (4) : 497-501

20   Chan S.K., Jaffe L., Capovilla M., Botas J. and Mann R.S. (1994). The DNA binding specificity of Ultrabithorax is modulated by cooperative interactions with extradenticle, another homeoprotein. Cell, 78 (4) : 603-15

19   Capovilla M., Brandt M. and Botas J. (1994). Direct regulation of decapentaplegic by Ultrabithorax and its role in Drosophila midgut morphogenesis. Cell, 76 (3) : 461-75

18   Genuardi M., Bardoni B., Floridia G., Chiurazzi P., Scarano G., Zollino M., Garcea N., Martini-Neri M.E. and Neri G. (1995). Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. Clin Genet, 47 (1) : 38-41

17   Schmitt-Ney M., Thiele H., Kaltwasser P., Bardoni B., Cisternino M. and Scherer G. (1995). Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet, 56 (4) : 862-9

16   Bardoni B., Guioli S., Maserati E., Maraschio P. and Camerino G. (1988). A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms. Hum Genet, 81 (1) : 23-5

15   Raimondi E., Bardoni B., Rinaldi E. and Camerino G. (1987). A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373). Nucleic Acids Res, 15 (18) : 7653

14   Bardoni B., Guioli S., Raimondi E., Heilig R., Mandel J.L., Ottolenghi S. and Camerino G. (1988). Isolation and characterization of a family of sequences dispersed on the human X chromosome. Genomics, 3 (1) : 32-8

13   Bardoni B., Sampietro M., Romano M., Crapanzano M., Mannucci P.M. and Camerino G. (1988). Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor. Hum Genet, 79 (1) : 86-8

12   Ballabio A., Bardoni B., Carrozzo R., Andria G., Bick D., Campbell L., Hamel B., Ferguson-Smith M.A., Gimelli G., Fraccaro M. and et al... (1989). Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A, 86 (24) : 10001-5

11   Guioli S., Arveiler B., Bardoni B., Notarangelo L.D., Panina P., Duse M., Ugazio A., Oberle I., de Saint Basile G., Mandel J.L. and et al... (1989). Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet, 84 (1) : 19-21

10   Caiulo A., Bardoni B., Camerino G., Guioli S., Minelli A., Piantanida M., Crosato F., Dalla Fior T. and Maraschio P. (1989). Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl. Hum Genet, 84 (1) : 51-4

9   Ballabio A., Bardoni B., Guioli S., Basler E. and Camerino G. (1990). Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics, 8 (2) : 263-70

8   Caiulo A., Nicolis S., Bianchi P., Zuffardi O., Bardoni B., Maraschio P., Ottolenghi S., Camerino G. and Giglioni B. (1991). Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23. Hum Genet, 86 (4) : 388-90

7   Franco B., Guioli S., Pragliola A., Incerti B., Bardoni B., Tonlorenzi R., Carrozzo R., Maestrini E., Pieretti M., Taillon-Miller P., Brown C.J., Willard H.F., Lawrence C., Graziella Persico M., Camerino G. and Ballabio A. (1991). A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature, 353 (6344) : 529-36

6   Qian S., Capovilla M. and Pirrotta V. (1991). The bx region enhancer, a distant cis-control element of the Drosophila Ubx gene and its regulation by hunchback and other segmentation genes. EMBO J, 10 (6) : 1415-25

5   Bardoni B., Zuffardi O., Guioli S., Ballabio A., Simi P., Cavalli P., Grimoldi M.G., Fraccaro M. and Camerino G. (1991). A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics, 11 (2) : 443-51

4   Mostacciuolo M.L., Muller E., Fardin P., Micaglio G.F., Bardoni B., Guioli S., Camerino G. and Danieli G.A. (1991). X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region. Hum Genet, 87 (1) : 23-7

3   Capovilla M., Eldon E.D. and Pirrotta V. (1992). The giant gene of Drosophila encodes a b-ZIP DNA-binding protein that regulates the expression of other segmentation gap genes. Development, 114 (1) : 99-112

2   Incerti B., Guioli S., Pragliola A., Zanaria E., Borsani G., Tonlorenzi R., Bardoni B., Franco B., Wheeler D., Ballabio A. and et al... (1992). Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nat Genet, 2 (4) : 311-4

1   Guioli S., Incerti B., Zanaria E., Bardoni B., Franco B., Taylor K., Ballabio A. and Camerino G. (1992). Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet, 1 (5) : 337-40