High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility
Maestrini, E, Pagnamenta, A T, Lamb, J A, Bacchelli, E, Sykes, N H, Sousa, I, Toma, C, Barnby, G, Butler, H, Winchester, L, Scerri, T S, Minopoli, F, Reichert, J, Cai, G, Buxbaum, J D, Korvatska, O, Schellenberg, G D, Dawson, G, Bildt, A de, Minderaa, R B, Mulder, E J, Morris, A P, Bailey, A J, Monaco, A P
Published in Molecular psychiatry (01.09.2010)
Published in Molecular psychiatry (01.09.2010)
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Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
BACCHELLI, E, BLASI, F, BAILEY, A. J, MONACO, A. P, MAESTRINI, E, BIONDOLILLO, M, LAMB, J. A, BONORA, E, BARNBY, G, PARR, J, BEYER, K. S, KLAUCK, S. M, POUSTKA, A
Published in Molecular psychiatry (01.11.2003)
Published in Molecular psychiatry (01.11.2003)
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Journal Article
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
Lamb, J A, Barnby, G, Bonora, E, Sykes, N, Bacchelli, E, Blasi, F, Maestrini, E, Broxholme, J, Tzenova, J, Weeks, D, Bailey, A J, Monaco, A P
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Journal Article
A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families
Maestrini, Elena, Korge, Bernhard P., Ocaña-Sierra, Juan, Calzolari, Elisa, Cambiaghi, Stefano, Scudder, Pat M., Hovnanian, Alain, Monaco, Anthony P., Munro, Colin S.
Published in Human molecular genetics (01.07.1999)
Published in Human molecular genetics (01.07.1999)
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Journal Article
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations
Toma, C, Rossi, M, Sousa, I, Blasi, F, Bacchelli, E, Alen, R, Vanhala, R, Monaco, A P, Järvelä, I, Maestrini, E
Published in Molecular psychiatry (01.11.2007)
Published in Molecular psychiatry (01.11.2007)
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Journal Article
Silicon Micromachined Waveguide Circuit for a 2 THz Schottky Receiver: Progress and Challenges
Chen, Christine P., Jung-Kubiak, Cecile, Lin, Robert H., Hayton, Darren J., Maestrini, Alain E., Siles, Jose, Lee, Choonsup, Peralta, Alejandro, Mehdi, Imran
Published in IEEE journal of microwaves (01.10.2022)
Published in IEEE journal of microwaves (01.10.2022)
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Journal Article
A Family of Transmembrane Proteins with Homology to the MET-Hepatocyte Growth Factor Receptor
Maestrini, E., Tamagnone, L., Longati, P., Cremona, O., Gulisano, M., Bione, S., Tamanini, F., Neel, B. G., Toniolo, D., Comoglio, P. M.
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
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Journal Article
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
Bonora, E, Bacchelli, E, Levy, E R, Blasi, F, Marlow, A, Monaco, A P, Maestrini, E
Published in Molecular psychiatry (01.03.2002)
Published in Molecular psychiatry (01.03.2002)
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Journal Article
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
BONORA, E, BACCHELLI, E, LEVY, E. R, BLASI, F, MARLOW, A, MONACO, A. P, MAESTRINI, E
Published in Molecular psychiatry (01.01.2002)
Published in Molecular psychiatry (01.01.2002)
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Journal Article
Transcriptional Organization of a 450-kb Region of the Human X Chromosome in Xq28
Bione, S., Tamanini, F., Maestrini, E., Tribioli, C., Poustka, A., Torri, G., Rivella, S., Toniolo, D.
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.1993)
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.1993)
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Journal Article
DNA variants in the human RAB3A gene are not associated with autism
D'Adamo, P., Bacchelli, E., Blasi, F., Lipp, H.‐P., Toniolo, D., Maestrini, E.
Published in Genes, brain and behavior (01.04.2004)
Published in Genes, brain and behavior (01.04.2004)
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Journal Article
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
Maestrini, E, Patrosso, C, Mancini, M, Rivella, S, Rocchi, M, Repetto, M, Villa, A, Frattini, A, Zoppè, M, Vezzoni, P
Published in Human molecular genetics (01.06.1993)
Published in Human molecular genetics (01.06.1993)
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Journal Article
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment
Cameli, Cinzia, Bacchelli, Elena, De Paola, Maria, Giucastro, Giuliano, Cifiello, Stefano, Collo, Ginetta, Cainazzo, Maria Michela, Pini, Luigi Alberto, Maestrini, Elena, Zoli, Michele
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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Journal Article
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)
ROUSSEAU, F, VINCENT, A, TONIOLO, D, OBERLE, I, RIVELLA, S, HEITZ, D, TRIBOLI, C, MAESTRINI, E, WARREN, S. T, SUTHERS, G. K, GOODFELLOW, P, MANDEL, J. L
Published in American journal of human genetics (1991)
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Published in American journal of human genetics (1991)
Journal Article
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
Bione, S, Maestrini, E, Rivella, S, Mancini, M, Regis, S, Romeo, G, Toniolo, D
Published in Nature genetics (01.12.1994)
Published in Nature genetics (01.12.1994)
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Journal Article
The Exon-Intron Organization of the Human X-Linked Gene (FLN1) Encoding Actin-Binding Protein 280
Patrosso, M.C., Repetto, M., Villa, A., Milanesi, L., Frattini, A., Faranda, S., Mancini, M., Maestrini, E., Toniolo, D., Vezzoni, P.
Published in Genomics (San Diego, Calif.) (01.05.1994)
Published in Genomics (San Diego, Calif.) (01.05.1994)
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Journal Article
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Bione, S, D'Adamo, P, Maestrini, E, Gedeon, A K, Bolhuis, P A, Toniolo, D
Published in Nature genetics (01.04.1996)
Published in Nature genetics (01.04.1996)
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Journal Article
Autism spectrum disorders: Molecular genetic advances
Bacchelli, Elena, Maestrini, Elena
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2006)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2006)
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Journal Article
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
Published in American journal of human genetics
(01.09.2001)
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Journal Article
Identification of novel RFLPs in the vicinity of CpG islands in Xq28 : application to the analysis of the pattern of X chromosome inactivation
MAESTRINI, E, RIVELLA, S, TRIBIOLI, C, ROCCHI, M, CAMERINO, G, SANTACHIARA-BENERECETTI, S, PAROLINI, O, NOTARANGELO, L. D, TONIOLO, D
Published in American journal of human genetics (1992)
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Published in American journal of human genetics (1992)
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