LINKAGE MAPPING CORE
- 3 Years 2003/2006
- 134.944€ Total Award
Description unavailable
Scientific Publications
- 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
