LINKAGE MAPPING CORE

Pubblicazioni Scientifiche

• 2004 EUROPEAN JOURNAL OF HUMAN GENETICS

  Hereditary hemochromatosis: Is the gene race over?

• 2004 NEUROGENETICS

  Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

• 2003 HAEMATOLOGICA

  Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family

• 2005 GENES CHROMOSOMES & CANCER

  8pII myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFRI and TIFI genes

• 2004 AMERICAN JOURNAL OF HUMAN GENETICS

  Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein

• 2003 BLOOD CELLS MOLECULES AND DISEASES

  Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes

• 2011 EUROPEAN JOURNAL OF HUMAN GENETICS

  Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population

• 2004 ONCOGENE

  Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells

• 2004 Nucleic acids research

  GOAL: automated Gene Ontology analysis of expression profiles

• 2004 Blood

  Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

• 2004 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

  Guidelines and recommendations for testing of Cx26 mutations and interpretation of results

• 2003 EUROPEAN JOURNAL OF HUMAN GENETICS

  Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

• 2004 HAEMATOLOGICA

  Genes transcriptionally modulated by interferon alpha 2a correlate with the cytokine activity

• 2005 JOURNAL OF NEUROLOGY

  Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

• 2003 JOURNAL OF NEPHROLOGY

  Nanotechnologies and microchips in genetic diseases

• 2004 Blood

  Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

• 2005 HUMAN GENETICS

  FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome

• 2004 EUROPEAN JOURNAL OF HUMAN GENETICS

  A second locus mapping to 2q35-36 for familial pseudohyperkalaemia

• 2004 NEUROLOGY

  A novel mutation in SACS gene in a family from southern Italy

• 2006 PANMINERVA MEDICA

  Exclusion of chromosome region 22q12.1-q12.3 as a second locus for Costello syndrome