Elena Maestrini

Publications prior to 2004

• Bacchelli E., Blasi F., Biondolillo M., Lamb J.A., Bonora E., Barnby G., Parr J., Beyer K.S, Klauck S.M., Poustka A., Bailey A.J., Monaco A.P., Maestrini E. and IMGSAC (2003). Screening of nine candidate genes for autism on chromosome 2q reveals rare non-synonymous variants in the cAMP-GEFII gene Molecular Psychiatry 8, 916-924.
• Beyer K.S., Blasi F., Bacchelli E., Klauck S.M., Maestrini E., Poustka A. and IMGSAC (2002). Mutation analysis of the coding sequence of the MECP2 gene in infantile autism Human Genetics 111: 305-309.
• Bonora E., Bacchelli E., Levy R.E., Blasi F., Marlow A., Monaco A.P., Maestrini E., and IMGSAC (2002). Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry 7, 289-301.
• The International Molecular Genetic Study of Autism Consortium (2001). A genome wide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p. Am J Hum Genet 69:570-581
• The International Molecular Genetic Study of Autism Consortium (2001). Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Molec Genet 10:973-982
  
• Maestrini E., Paul A., Monaco A.P. and Bailey A. (2000). Identifying autism susceptibility genes. Neuron 28, 19-24
•  Fisher S.E., Marlow A.J., Lamb J., Maestrini E., Williams D.F., Richardson A.J., Weeks D.E., Stein J.F., and Monaco A.P. (1999) A quantitative trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am. J. Hum. Genet. 64:146-156
• Maestrini E., Lai C., Marlow A., Matthews N., Wallace S., Bailey T., Cook E.,Weeks D. E. Monaco A. P. and IMGSAC. Serotonin transporter (5-HTT) and γ-aminobutyric acid receptor subunit β3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. (1999) Am. J. Med. Genet. (Neuropsychiatr. Genet.). 88, 492-496.
•  Maestrini E., Korge B. P., Ocaña-Sierra J., Calzolari E., Cambiaghi S., Scudder P. M., Hovnanian A., Monaco A. P., Munro C. S. (1999) A missense mutation in connexin 26, D66H, causing mutilating keratoderma with sensorineural deafness (Vohwinkel's Syndrome) in three unrelated families. Hum. Mol. Genet. 8, 1237-1243.
• Maestrini E., Marlow A. J., Weeks D. E., and Monaco A. P  (1998). Molecular genetic investigations of autism. Journal of Autism and Developmental Disorders 28, 439-449.
• The International Molecular Genetic Study of Autism Consortium (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics 7, 571-578.
• Maestrini E., Monaco A. P., McGraph J. A., Ishida-Yamamoto A., Camisa C., Hovnanian A., Weeks D. E., Lathrop M., Uitto J. and Christiano A. M. (1996) A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genetics 13, 70-77.
• Maestrini E., Tamagnone L., Longati P., Cremona O., Gulisano M., Bione S., Tamanini F., Neel B. G., Toniolo D. and Comoglio P. M. (1996). A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proc. Natl. Acad. Sci. USA. 93, 674-678.
• Bione S., D'Adamo P., Maestrini E., Gedeon A. K., Bolhuis P. A. and Toniolo D. (1996). A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nature Genetics 12, 385-389.
• Rivella S., Tamanini F., Bione S., Mancini M., Herman G., Chatterjee A., Maestrini E. and Toniolo D. (1995). A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics 28, 377-382.
• Bione S., Maestrini E., Rivella S., Mancini M., Regis S., Romeo G. and Toniolo D. (1994). Identification of a novel X-linked gene responsible for Emery-Dreifuss muscolar dystrophy. Nature Genetics 8, 323-327.
• Maestrini E., Patrosso C., Mancini M., Rivella S., Rocchi M., Repetto M., Villa A., Frattini A., Zoppè M., Vezzoni P. and Toniolo D. (1993). Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Human Molecular Genetics 2, 761-766.
• Bione S., Tamanini F., Maestrini E., Tribioli C., Poustka A., Torri G., Rivella S. and Toniolo D. (1993). Transcriptional organization of a 450 kb region of the human X chromosome, in Xq28. Proc. Natl. Acad. Sci. USA. 90, 10977-10981.
• Maestrini E., Tamanini F., Kioschis P., Gimbo E., Marinelli P., Tribioli C., D'Urso M., Palmieri G., Pouska A. and Toniolo D. (1992). An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new genes of the human X chromosome. Human Molecular Genetics 1, 275-280.
•  Maestrini E., Rivella S., Tribioli C., Rocchi M., Camerino G., Santachiara-Benerecetti S., Parolini O., Notarangelo L.D. and Toniolo D. (1992). Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation. Am. J. Hum. Genet. 50, 156-163.
• 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., Persico M.G., 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, 529-536
• Rousseau F., Vincent A., Rivella S., Heitz D., Tribioli C., Maestrini E., Warren S.T., Suthers G.K., Goodfellow P., Mandel J.L., Toniolo D. and Oberlé I. (1991). Four chromosomal breakpoints and four new probes mark out a 10 cM region encompassing the FRAXA locus. Am. J. Hum. Genet. 48, 108-116.
• Maestrini E., Rivella S., Tribioli C., Purtilo D., Rocchi M., Archidiacono N. and Toniolo D. (1990). Probes for CpG islands of the human X chromosome are clustered in Xq24 and Xq28. Genomics 8, 664-670.