IDENTIFICATION AND MOLECULAR CHARACTERIZATION OF DISEASE GENES IN Xq28 AND OF GENES RESPONSIBLE FOR MENTAL RETARDATION SYNDROMES

Pubblicazioni Scientifiche

• 1998 NEUROMUSCULAR DISORDERS

  Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers

• 1998 NATURE GENETICS

  Mutations in GDI1 are responsible for X-linked non-specific mental retardation

• 2002 HUMAN MOLECULAR GENETICS

  Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice

• 1997 CLINICAL GENETICS

  X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies

• 1996 GENOMICS

  Selection and fine mapping of chromosome-specific cDNAs: Application to human chromosome 1

• 1996 NATURE GENETICS

  A novel X-linked gene, G4.5. is responsible for Barth syndrome

• 1998 AMERICAN JOURNAL OF HUMAN GENETICS

  A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility

• 1997 GENOMICS

  Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21

• 1997 ANNALS OF NEUROLOGY

  X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

• 1999 NATURE GENETICS

  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

• 1998 HUMAN MOLECULAR GENETICS

  Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor

• 1998 AMERICAN JOURNAL OF HUMAN GENETICS

  X chromosome inactivation in carriers of Barth syndrome

• 1998 JOURNAL OF THE NEUROLOGICAL SCIENCES

  Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)

• 1997 HUMAN MOLECULAR GENETICS

  Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

• 1997 AMERICAN JOURNAL OF HUMAN GENETICS

  The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies

• 1996 CLINICAL GENETICS

  FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure