GENETIC DISEASES WITH CYTOGENETIC AETIOLOGY: GENERATION OF A PANEL OF PARTIAL CHROMOSOME PAINTS AND YAC PROBES AS TOOLS FOR AN EFFECTIVE CYTOGENETIC COUNSELING

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Molecular cytogenetic resources specific for chromosome 12

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Mapping of the human voltage-dependent anion channel isoforms 1 and 2 reconsidered

• BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION

  The human gene coding for HCN2, a pacemaker channel of the heart

• CYTOGENETICS AND CELL GENETICS

  Assignment of the human dicarboxylate carrier gene (DIC) to chromosome 17 band 17q25.3

• CYTOGENETICS AND CELL GENETICS

  Assignment of the oxoglutarate carrier gene (SLC20A4) to human chromosome 17p13.3

• CYTOGENETICS AND CELL GENETICS

  Assignment of the aquaporin-8 water channel gene (AQP8) to human chromosome 16p12

• CYTOGENETICS AND CELL GENETICS

  Assignment of human teratocarcinoma derived growth factor (TDGF) sequences to chromosomes 2q37, 3q22, 6p25 and 19q13.1

• CYTOGENETICS AND CELL GENETICS

  Cloning, structural organization and chromosomal localization of the mouse Aquaporin-8 water channel gene (Aqp8)

• CYTOGENETICS AND CELL GENETICS

  The human KRAB/FPB containing zinc finger gene ZNF2 maps to chromosome 2q11.2

• CYTOGENETICS AND CELL GENETICS

  Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3

• CYTOGENETICS AND CELL GENETICS

  Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12

• CYTOGENETICS AND CELL GENETICS

  Assignment to chromosome 12q24.33, gene organization and splicing of the human KRAB/FPB containing zinc finger gene ZNF84

• GENOME RESEARCH

  CAGGG repeats and the pericentromeric duplication of the hominoid genome

• GENOME RESEARCH

  Centromere repositioning

• GENOMICS

  Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm):: A new gene cluster on Xp22

• GENOMICS

  Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region

• GENOMICS

  Molecular cytogenetic resources for chromosome 4 and comparative analysis of phylogenetic chromosome IV in great apes

• HUMAN MOLECULAR GENETICS

  Molecular structure and evolution of an alpha satellite non-alpha satellite junction at 16p11

• HUMAN MOLECULAR GENETICS

  Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q

• HUMAN MOLECULAR GENETICS

  Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Melusin is a new muscle-specific interactor for β1 integrin cytoplasmic domain

• JOURNAL OF BIOLOGICAL CHEMISTRY

  ERO1-L, a human protein that favors disulfide bond formation in the endoplasmic reticulum

• MATRIX BIOLOGY

  CDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse Cartilage Associated Protein

• NATURE

  The structure and evolution of centromeric transition regions within the human genome