1 - 25 of 27 results for author:"Maestrini E." in Literature citations
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| Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Leblond C.S., Heinrich J., Delorme R., Proepper C., Betancur C., Huguet G., Konyukh M., Chaste P., Ey E., Rastam M. et al. PLoS Genet. 8:e1002521-e1002521(2012) · Mapped (4) |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D. et al. Sci. Transl. Med. 2:49RA68-49RA68(2010) · UniProtKB (2) · Mapped (2) |
| A genome-wide scan for common alleles affecting risk for autism. Anney R., Klei L., Pinto D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., Sykes N., Pagnamenta A.T. et al. Hum. Mol. Genet. 19:4072-4082(2010) · Mapped (14) |
| Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D., Pagnamenta A.T., Klei L., Anney R., Merico D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S. et al. Nature 466:368-372(2010) · Mapped (7) |
| Linkage and candidate gene studies of autism spectrum disorders in European populations. EU Autism MOLGEN Consortium Eur. J. Hum. Genet. 18:1013-1019(2010) · Mapped (35) |
| Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. International Molecular Genetic Study Of Autism Consortium Biol. Psychiatry 68:320-328(2010) · Mapped (8) |
| 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. et al. Mol. Psychiatry 15:954-968(2010) · Mapped (94) |
| MET and autism susceptibility: family and case-control studies. International Molecular Genetic Study of Autism Consortium (IMGSAC) Eur. J. Hum. Genet. 17:749-758(2009) · Mapped (22) |
| 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., Jarvela I., Maestrini E. Mol. Psychiatry 12:977-979(2007) · UniProtKB (1) · Mapped (1) |
| Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. International Molecular Genetic Study of Autism Consortium (IMGSAC) Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B:220-221(2006) · Mapped (11) |
| SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. International Molecular Genetic Study of Autism Consortium (IMGSAC) Eur. J. Hum. Genet. 14:123-126(2006) · Mapped (6) |
| Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. International Molecular Genetic Study of Austism Consortium Eur. J. Hum. Genet. 13:198-207(2005) · Mapped (1) |
| 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. Genes Brain Behav. 3:123-124(2004) · Mapped (2) |
| Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. International Molecular Genetic Study of Autism Consortium (IMGSAC) Mol. Psychiatry 8:916-924(2003) · Mapped (12) |
| Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Beyer K.S., Blasi F., Bacchelli E., Klauck S.M., Maestrini E., Poustka A. |
| 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. Mol. Psychiatry 7:289-301(2002) · UniProtKB (2) · Mapped (14) |
| Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Maestrini E., Lai C., Marlow A., Matthews N., Wallace S., Bailey A., Cook E.H., Weeks D.E., Monaco A.P. Am. J. Med. Genet. 88:492-496(1999) · Mapped (3) |
| A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghi S., Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S. Hum. Mol. Genet. 8:1237-1243(1999) · UniProtKB (1) |
| 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. Nat. Genet. 12:385-389(1996) · UniProtKB (1) |
| 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. Proc. Natl. Acad. Sci. U.S.A. 93:674-678(1996) · UniProtKB (4) · Mapped (3) |
| 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. Proc. Natl. Acad. Sci. U.S.A. 90:10977-10981(1993) · UniProtKB (1) |
| Comparative mapping of the actin-binding protein 280 genes in human and mouse. Gariboldi M., Maestrini E., Canzian F., Manenti G., De Gregorio L., Rivella S., Chatterjee A., Herman G.E., Archidiacono N., Antonacci R. Genomics 21:428-430(1994) · Mapped (35) |
| 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. Genomics 21:71-76(1994) · UniProtKB (1) |
| 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. |
| 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., Zoppe M., Vezzoni P. et al. Hum. Mol. Genet. 2:761-766(1993) · UniProtKB (2) |