E Maestrini

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi 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
    E Maestrini
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Med Genet 88:492-6. 1999
  2. ncbi Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Med Genet 42:132-7. 2005
  3. ncbi Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 7:289-301. 2002
  4. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
  5. ncbi A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 13:70-7. 1996
  6. ncbi A novel X-linked gene, G4.5. is responsible for Barth syndrome
    S Bione
    Institute of Genetics, Biochemistry and Evolution CNR, Pavia, Italy
    Nat Genet 12:385-9. 1996
  7. ncbi A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor
    E Maestrini
    Institute of Genetics Biochemistry and Evolution, Consiglio Nazionale delle Ricerche, Pavia, Italy
    Proc Natl Acad Sci U S A 93:674-8. 1996
  8. ncbi Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    S Bione
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Nat Genet 8:323-7. 1994
  9. ncbi Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    E Bacchelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    Mol Psychiatry 8:916-24. 2003
  10. ncbi A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    B Franco
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nature 353:529-36. 1991

Collaborators

Detail Information

Publications10

  1. ncbi 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
    E Maestrini
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Med Genet 88:492-6. 1999
    ..No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set...
  2. ncbi Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Med Genet 42:132-7. 2005
    ..02). CONCLUSION: These data support the possibility of two discrete loci underlying linkage of autism to chromosome 7, and implicate possible parent of origin specific effects in the aetiology of autism...
  3. ncbi Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 7:289-301. 2002
    ..The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus...
  4. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
    ..Our results provide evidence that a specific mutation in Cx26 can impair epidermal differentiation, as well as inner ear function...
  5. ncbi A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 13:70-7. 1996
    ..Our findings provide the first evidence for a defect in an EDC gene in human disease, and disclose novel insights into perturbations of cornified cell envelope formation...
  6. ncbi A novel X-linked gene, G4.5. is responsible for Barth syndrome
    S Bione
    Institute of Genetics, Biochemistry and Evolution CNR, Pavia, Italy
    Nat Genet 12:385-9. 1996
    ..The mutations introduce stop codons in the open reading frame interrupting translation of most of the putative proteins (which we term 'tafazzins'). Our results suggest that G4.5 is the genetic locus responsible for the Barth syndrome...
  7. ncbi A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor
    E Maestrini
    Institute of Genetics Biochemistry and Evolution, Consiglio Nazionale delle Ricerche, Pavia, Italy
    Proc Natl Acad Sci U S A 93:674-8. 1996
    ..These data define a gene family (SEX family) involved in the development of neural and epithelial tissues, which encodes putative receptors with unexpected enzymatic or binding properties...
  8. ncbi Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    S Bione
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Nat Genet 8:323-7. 1994
    ....
  9. ncbi Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    E Bacchelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    Mol Psychiatry 8:916-24. 2003
    ..Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility...
  10. ncbi A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    B Franco
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nature 353:529-36. 1991
    ....