Search Results - "Persico, Ivana"

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population by Sini, Maria Cristina, Doro, Maria Grazia, Frogheri, Laura, Zinellu, Angelo, Paliogiannis, Panagiotis, Porcu, Alberto, Scognamillo, Fabrizio, Delogu, Daniele, Santeufemia, Davide Adriano, Persico, Ivana, Palomba, Grazia, Maestrale, Giovanni Battista, Cossu, Antonio, Palmieri, Giuseppe

“…Patients with pancreatic ductal adenocarcinoma (PDCA) carrying impaired mismatch repair mechanisms seem to have an outcome advantage under treatment with…”
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PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis by Lobrano, Renato, Paliogiannis, Panagiotis, Zinellu, Angelo, Palmieri, Giuseppe, Persico, Ivana, Mangoni, Arduino A, Cossu, Antonio

“…Cutaneous angiosarcoma (CAS) is the most common type of angiosarcoma that predominantly affects older Caucasians. The outcomes of immunotherapy in CAS are…”
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Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma by Pira, Giovanna, Uva, Paolo, Scanu, Antonio Mario, Rocca, Paolo Cossu, Murgia, Luciano, Uleri, Elena, Piu, Claudia, Porcu, Alberto, Carru, Ciriaco, Manca, Alessandra, Persico, Ivana, Muroni, Maria Rosaria, Sanges, Francesca, Serra, Caterina, Dolei, Antonia, Angius, Andrea, De Miglio, Maria Rosaria

“…We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression…”
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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report by Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F, Oppo, Manuela, Zschaber, Fabiana C R, Porcu, Giampiero, Porto, Henrique P, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C N, Pires, Marcos V A, Cucca, Francesco, Toralles, Maria Betânia P, Angius, Andrea, Crisponi, Laura

“…KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short…”
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High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis by Pistis, Giorgio, Piras, Ignazio, Pirastu, Nicola, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio, Fraumene, Cristina, Mocci, Evelina, Manias, Maria Teresa, Atzeni, Rossano, Cosso, Massimiliano, Pirastu, Mario, Angius, Andrea

“…To better design association studies for complex traits in isolated populations it's important to understand how history and isolation moulded the genetic…”
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Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis by Tore, Silvia, Casula, Stefania, Casu, Giuseppina, Concas, Maria Pina, Pistidda, Paola, Persico, Ivana, Sassu, Alessandro, Maestrale, Giovanni Battista, Mele, Caterina, Caruso, Maria Rosa, Bonerba, Bibiana, Usai, Paolo, Deiana, Ivo, Thornton, Timothy, Pirastu, Mario, Forabosco, Paola

“…In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for…”
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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations by Mocci, Evelina, Concas, Maria P, Fanciulli, Manuela, Pirastu, Nicola, Adamo, Mauro, Cabras, Valentina, Fraumene, Cristina, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio A, Serra, Donatella, Biino, Ginevra, Pirastu, Mario, Angius, Andrea

“…A multiplicity of study designs such as gene candidate analysis, genome wide search (GWS) and, recently, whole genome association studies have been employed…”
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function by Pattaro, Cristian, Teumer, Alexander, Tin, Adrienne, Sorice, Rossella, Foster, Meredith, Johnson, Andrew D., Nalls, Michael, Dehghan, Abbas, Dieffenbach, Aida Karina, Nolte, Ilja M., van der Most, Peter J., Shuldiner, Alan R., Morrison, Alanna C., Hofman, Albert, Lupo, Antonio, Robino, Antonietta, Johansson, Åsa, Freedman, Barry I., Mitchell, Braxton D., Hayward, Caroline, Shaffer, Christian M., Toniolo, Daniela, Lu, Yingchang, Siscovick, David S., Ruderfer, Douglas, Atkinson, Elizabeth J., Boerwinkle, Eric, Rivadeneira, Fernando, Hu, Frank B., Navis, Gerjan J., Curhan, Gary C., Ehret, George B., Coassin, Stefan, Thun, Gian-Andri, Eiriksdottir, Gudny, Wichmann, H-Erich, Brenner, Hermann, Ford, Ian, Guessous, Idris, Rudan, Igor, Heid, Iris M., Kolcic, Ivana, Persico, Ivana, Jukema, J. Wouter, Wilson, James F., Divers, Jasmin, Stafford, Jeanette M., Smith, Jennifer A., Wang, Jie Jin, Viikari, Jorma, Coresh, Josef, Butterbach, Katja, Lohman, Kurt, Portas, Laura, Lyytikäinen, Leo-Pekka, Yengo, Loic, Ferrucci, Luigi, Cavalieri, Margherita, Haun, Margot, Pirastu, Mario, McEvoy, Mark A., Woodward, Mark, Adam, Martin, Nauck, Matthias, Stumvoll, Michael, Sale, Michele M., Boban, Mladen, Bochud, Murielle, Verweij, Niek, Probst-Hensch, Nicole, Soranzo, Nicole, Gottesman, Omri, Polasek, Ozren, Ridker, Paul M., Mitchell, Paul, Muntner, Paul, Meisinger, Christa, Smit, Johannes H., Wild, Philipp S., Biffar, Reiner, Carroll, Robert J., Penninx, Brenda W., Scott, Rodney J., Katz, Ronit, Hwang, Shih-Jen, Kloiber, Stefan, Rosas, Sylvia E., Harris, Tamara B., Aspelund, Thor, Nikopensius, Tiit, Chen, Wei-Min, Igl, Wilmar, Lieb, Wolfgang, Loos, Ruth J. F., Liu, Yongmei, Parsa, Afshin, Hamet, Pavel, Tremblay, Johanne, Goessling, Wolfram, Fox, Caroline S.

“…Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis…”
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Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion by Schierz, Ingrid Anne Mandy, Serra, Gregorio, Antona, Vincenzo, Persico, Ivana, Corsello, Giovanni, Piro, Ettore

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Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family by Sahi, Puneet Kaur, Mandal, Anirban, Persico, Ivana, Seth, Anju, Crisponi, Laura

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Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts by Buers, Insa, Persico, Ivana, Schöning, Lara, Nitschke, Yvonne, Di Rocco, Maja, Loi, Angela, Sahi, Puneet Kaur, Utine, Gulen Eda, Bayraktar‐Tanyeri, Bilge, Zampino, Giuseppe, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory…”
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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Persico, Ivana, Onano, Stefano, Olla, Stefania, Pes, Valentina, Perria, Chiara, Cuccuru, Gianmauro, Atzeni, Rossano, Serra, Gigliola, Cucca, Francesco, Sotgiu, Stefano, Hennekam, Raoul C., Crisponi, Laura

“…We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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A strategy analysis for genetic association studies with known inbreeding by Cabras, Stefano, Castellanos, Maria Eugenia, Biino, Ginevra, Persico, Ivana, Sassu, Alessandro, Casula, Laura, Del Giacco, Stefano, Bertolino, Francesco, Pirastu, Mario, Pirastu, Nicola

“…Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis…”
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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva‐Lena, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding…”
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EDA2R Is Associated with Androgenetic Alopecia by Prodi, Dionigio Antonio, Pirastu, Nicola, Maninchedda, Giuseppe, Sassu, Alessandro, Picciau, Andrea, Palmas, Maria Antonietta, Mossa, Alessandra, Persico, Ivana, Adamo, Mauro, Angius, Andrea, Pirastu, Mario

“…Androgenetic alopecia (AGA) is a common heritable polygenic disorder whose genetics is not fully understood, even though it seems to be X-linked. We carried…”
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A new case series of Crisponi syndrome in a Turkish family and review of the literature by Bayraktar-Tanyeri, Bilge, Hepokur, Mervenur, Bayraktar, Suleyman, Persico, Ivana, Crisponi, Laura

“…Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for…”
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Molecular Characterization of β-Thalassemia Mutations in Central Vietnam by Doro, Maria G., Casu, Giuseppina, Frogheri, Laura, Persico, Ivana, Triet, Le Phan Minh, Hoa, Phan Thi Thuy, Hoang, Nguyen Huy, Pirastru, Monica, Mereu, Paolo, Cucca, Francesco, Masala, Bruno

“…The molecular basis of β-thalassemia (β-thal) mutations in North and in South Vietnam have been described during the past 15 years, whereas limited data were…”
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Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis: e1001281 by Tore, Silvia, Casula, Stefania, Casu, Giuseppina, Concas, Maria Pina, Pistidda, Paola, Persico, Ivana, Sassu, Alessandro, Maestrale, Giovanni Battista, Mele, Caterina, Caruso, Maria Rosa, Bonerba, Bibiana, Usai, Paolo, Deiana, Ivo, Thornton, Timothy, Pirastu, Mario, abosco, Paola

“…In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for…”
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