ArTS Archivio della ricerca di Trieste

D'ADAMO, ADAMO PIO

D'ADAMO, ADAMO PIO  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Settore MED/03 - Genetica Medica  

Docenti di ruolo di IIa fascia  

d'Adamo Pio; Adamo P d'Adamo; Pio d'Adamo; d'Adamo, P  

UnityFVG

6701783006

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Risultati 1 - 20 di 115 (tempo di esecuzione: 0.034 secondi).
Titolo Data di pubblicazione Autori File
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 1-gen-2017 COCCA, MASSIMILIANOD'ADAMO, ADAMO PIOGASPARINI, PAOLOGIROTTO, GIORGIAPISTIS, GIORGIOROBINO, ANTONIETTAULIVI, SHEILAVUCKOVIC, DRAGANA +
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia 1-gen-2015 D'ADAMO, ADAMO PIO +
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. 1-gen-2013 PIRASTU, NicolaD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa 1-gen-2023 Tricarico, Paola Maurad'Adamo, Adamo PioCrovella, SergioBoniotto, Michele +
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 nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 1-gen-2015 D'ADAMO, ADAMO PIO +
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 +
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 1-gen-2012 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 1-gen-2005 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 1-gen-2013 GIROTTO, GIORGIAD'ADAMO, ADAMO PIOVOZZI, DIEGOMORGAN, ANNAGASPARINI, PAOLO +
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis 1-gen-2022 Tricarico, Paola MauraGratton, RossellaDel Vecchio, CeciliaMoltrasio, ChiaraD'Adamo, Adamo PioBoniotto, MicheleCrovella, Sergio +
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 1-gen-2004 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. 1-gen-2013 D'ADAMO, ADAMO PIO +
Age-related hearing loss in four Italian genetic isolates: an epidemiological study. 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking. 1-gen-2014 PIRASTU, NicolaTRAGLIA, MICHELAD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 1-gen-2011 ATHANASAKIS, EMMANOUILD'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 +
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 1-gen-2005 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene 1-gen-2013 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. 1-gen-2004 D'ADAMO, ADAMO PIO +