GENOTYPE-PHENOTYPE CORRELATION IN GENETIC DISEASES WITH CYTOGENETIC ETIOLOGY: GENERATION OF A PANEL OF SUBCHROMOSOMAL PAINTING LIBRARIES AND CHARACTERIZATION OF A LARGE PANEL OF YAC PROBES AS TOOLS FOR AN EFFECTIVE CYTOGENETIC COUNSELING

Pubblicazioni Scientifiche

• 1996 GENOMICS

  The ZNF75 zinc finger gene subfamily: Isolation and mapping of the four members in humans and great apes

• 1996 CIRCULATION

  Assignment of the vascular endothelial growth factor gene to human chromosome 6p21.3

• 1996 HUMAN GENETICS

  A novel mechanism for the origin of supernumerary marker chromosomes

• 1998 CYTOGENETICS AND CELL GENETICS

  Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3

• 1996 HUMAN MOLECULAR GENETICS

  Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region

• 1997 CYTOGENETICS AND CELL GENETICS

  A panel of radiation hybrids and YAC clones specific for human chromosome 5

• 1996 JOURNAL OF IMMUNOLOGY

  Molecular cloning of TER1, a chemokine receptor-like gene expressed by lymphoid tissues

• 1997 JOURNAL OF MOLECULAR EVOLUTION

  Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology

• 1997 GENOMICS

  Isolation and chromosomal localization of GPR31, a human gene encoding a putative G protein-coupled receptor

• 1997 HUMAN MOLECULAR GENETICS

  Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity

• 1997 GENOMICS

  Mapping of the human ribosomal small subunit protein gene RPS24 to the chromosome 10q22-q23 boundary