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Mostrati risultati da 1 a 20 di 117
Titolo Data di pubblicazione Autori File
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 1-gen-2001 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Cystinuria type I: identification of eight new mutations in SLC3A1. 1-gen-2001 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 1-gen-2002 D'ADAMO, ADAMO PIO +
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
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. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein. 1-gen-2004 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 1-gen-2004 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. 1-gen-2004 D'ADAMO, ADAMO PIO +
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 1-gen-2004 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 1-gen-2005 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 1-gen-2005 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion 1-gen-2006 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11) 1-gen-2006 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 1-gen-2007 D'ADAMO, ADAMO PIO +
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency 1-gen-2008 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase 1-gen-2008 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Mostrati risultati da 1 a 20 di 117
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