D'ADAMO, ADAMO PIO

D'ADAMO, ADAMO PIO

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Dettaglio

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 

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

UnityFVG

6701783006

Pubblicazioni

Risultati 1 - 20 di 99 (tempo di esecuzione: 0.001 secondi).

TitoloData di pubblicazioneAutoriFile
11000 Genomes-based meta-analysis identifies 10 novel loci for kidney function2017COCCA, MASSIMILIANO  ; D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; GIROTTO, GIORGIA  ; PISTIS, GIORGIO  ; ROBINO, ANTONIETTA  ; ULIVI, SHEILA  ; VUCKOVIC, DRAGANA  ;  Open Access
2A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.2003D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  -
3A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.2003D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  -
4A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family.2012D'ADAMO, ADAMO PIO  ; ATHANASAKIS, EMMANOUIL  ; GASPARINI, PAOLO  -
5A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly2005D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; -
6A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss2013GIROTTO, GIORGIA  ; D'ADAMO, ADAMO PIO  ; VOZZI, DIEGO  ; MORGAN, ANNA  ; GASPARINI, PAOLO  -
7Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.2013D'ADAMO, ADAMO PIO  ; -
8Age-related hearing loss in four Italian genetic isolates: an epidemiological study.2009D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; -
9Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.2014PIRASTU, Nicola  ; TRAGLIA, MICHELA  ; D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  -
10Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.2011ATHANASAKIS, EMMANOUIL  ; D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; -
11Autosomal 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.2003D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  -
12Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation2005D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; -
13Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene2013D'ADAMO, ADAMO PIO  ; ATHANASAKIS, EMMANOUIL  ; GASPARINI, PAOLO  -
14Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.2004D'ADAMO, ADAMO PIO  ; -
15Benign hereditary chorea and deletions outside NKX2-1 : What's the role of MBIP?2018D'ADAMO, ADAMO PIO  ;  riservati
16Brain-derived neurotrophic factor serum levels in genetically isolated populations: Gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism2015CARLINO, DAVIDE  ; BAJ, Gabriele  ; D'ADAMO, ADAMO PIO  ; ULIVI, SHEILA  ; CAPPELLANI, STEFANIA  ; GASPARINI, PAOLO  ; TONGIORGI, Enrico    Open Access
17Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis2016ABATE, MARIA VALENTINA  ; STOCCO, GABRIELE  ; PIEROBON, CHIARA  ; LUCAFO, MARIANNA  ; DI SILVESTRE, ALESSIA  ; D'ADAMO, ADAMO PIO  ; TOMMASINI, ALBERTO  ; DECORTI, GIULIANA  ; VENTURA, ALESSANDRO    Open Access
18A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia2015D'ADAMO, ADAMO PIO  ;  riservati
19Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.2002D'ADAMO, ADAMO PIO  ; -
20Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways2015D'ADAMO, ADAMO PIO  ;  Open Access
 
 
 
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