Ivana Persico
Ivana Persico
ricercatore, Istituto di Ricerca Genetica e Biomedica, CNR
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
A Kttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek, C Hundertmark, ...
Nature genetics 45 (2), 145-154, 2013
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ...
Nature communications 7 (1), 10023, 2016
EDA2R is associated with androgenetic alopecia
DA Prodi, N Pirastu, G Maninchedda, A Sassu, A Picciau, MA Palmas, ...
Journal of Investigative Dermatology 128 (9), 2268-2270, 2008
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions
L Malaguarnera, J Simpore, DA Prodi, A Angius, A Sassu, I Persico, ...
Genes & Immunity 4 (8), 570-574, 2003
A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two…
M Falchi, P Forabosco, E Mocci, CC Borlino, A Picciau, E Virdis, I Persico, ...
The American Journal of Human Genetics 75 (6), 1015-1031, 2004
Identification of a founder BRCA2 mutation in Sardinia
M Pisano, A Cossu, I Persico, G Palmieri, A Angius, G Casu, G Palomba, ...
British journal of cancer 82 (3), 553-559, 2000
Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ...
The American Journal of Human Genetics 99 (1), 236-245, 2016
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations
A Tenesa, AF Wright, SA Knott, AD Carothers, C Hayward, A Angius, ...
Human Molecular Genetics 13 (1), 25-33, 2004
Not all isolates are equal: linkage disequilibrium analysis on Xq13. 3 reveals different patterns in Sardinian sub-populations
A Angius, D Bebbere, E Petretto, M Falchi, P Forabosco, G Maestrale, ...
Human genetics 111, 9-15, 2002
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis
G Pistis, I Piras, N Pirastu, I Persico, A Sassu, A Picciau, D Prodi, ...
PloS one 4 (2), e4654, 2009
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
RM Alves, P Uva, MF Veiga, M Oppo, FCR Zschaber, G Porcu, HP Porto, ...
BMC Medical Genetics 20, 1-7, 2019
BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling
G Palmieri, G Palomba, A Cossu, M Pisano, MF Dedola, MG Sarobba, ...
Annals of oncology 13 (12), 1899-1907, 2002
Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma
G Pira, P Uva, AM Scanu, PC Rocca, L Murgia, E Uleri, C Piu, A Porcu, ...
Scientific Reports 10 (1), 432, 2020
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
A Angius, P Uva, M Oppo, I Persico, S Onano, S Olla, V Pes, C Perria, ...
American Journal of Medical Genetics Part A 179 (4), 634-638, 2019
Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
I Buers, I Persico, L Schning, Y Nitschke, M Di Rocco, A Loi, PK Sahi, ...
Clinical Genetics 97 (1), 209-221, 2020
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
A Angius, S Cossu, P Uva, M Oppo, S Onano, I Persico, G Fotia, R Atzeni, ...
Clinical genetics 93 (6), 1245-1247, 2018
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
IAM Schierz, G Serra, V Antona, I Persico, G Corsello, E Piro
Clinical Dysmorphology 29 (3), 141-143, 2020
Molecular characterization of β-thalassemia mutations in Central Vietnam
MG Doro, G Casu, L Frogheri, I Persico, LPM Triet, PTT Hoa, NH Hoang, ...
Hemoglobin 41 (2), 96-99, 2017
Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate and the selection of markers for association studies
A Angius, FCL Hyland, I Persico, N Pirastu, T Woodage, M Pirastu, ...
Human Heredity 65 (1), 9-22, 2007
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations
E Mocci, MP Concas, M Fanciulli, N Pirastu, M Adamo, V Cabras, ...
BMC Medical Genetics 10, 1-13, 2009
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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