<it>"GenotypeColour™"</it>: colour visualisation of SNPs and CNVs

Por Magri Chiara, Chiesa Sergio, Barlati Sergio
Publicado em 2009-02-01

"GenotypeColour™": colour visualisation of SNPs and CNVs

Por Barlati, Sergio, Chiesa, Sergio, Magri, Chiara
Publicado em 2009

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

Por Magri, Chiara, Marchina, Eleonora, Bertini, Valeria, Traversa, Michele, Savio, Giulia, Pilotta, Alba, Piovani, Giovanna
Publicado no BMC Med Genet (2015)

Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variab...

Por Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, Barbon, Alessandro
Publicado no BMC Genomics (2018)

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

Por Piovani, Giovanna, Savio, Giulia, Traversa, Michele, Pilotta, Alba, De Petro, Giuseppina, Barlati, Sergio, Magri, Chiara
Publicado em 2014

New Copy Number Variations in Schizophrenia

Por Magri, Chiara, Sacchetti, Emilio, Traversa, Michele, Valsecchi, Paolo, Gardella, Rita, Bonvicini, Cristian, Minelli, Alessandra, Gennarelli, Massimo, Barlati, Sergio
Publicado em 2010

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

Por Giacopuzzi, Edoardo, Gennarelli, Massimo, Minelli, Alessandra, Gardella, Rita, Valsecchi, Paolo, Traversa, Michele, Bonvicini, Cristian, Vita, Antonio, Sacchetti, Emilio, Magri, Chiara
Publicado no PLoS One (2017)

Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation

Por Torroni, Antonio, Campos, Yolanda, Rengo, Chiara, Sellitto, Daniele, Achilli, Alessandro, Magri, Chiara, Semino, Ornella, García, Alberto, Jara, Pilar, Arenas, Joaquín, Scozzari, Rosaria
Publicado em 2003

Saami and Berbers—An Unexpected Mitochondrial DNA Link

Por Achilli, Alessandro, Rengo, Chiara, Battaglia, Vincenza, Pala, Maria, Olivieri, Anna, Fornarino, Simona, Magri, Chiara, Scozzari, Rosaria, Babudri, Nora, Santachiara-Benerecetti, A. Silvana, Bandelt, Hans-Jürgen, Semino, Ornella, Torroni, Antonio
Publicado em 2005

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

Por Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo
Publicado no Sci Rep (2018)

Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area

Por Semino, Ornella, Magri, Chiara, Benuzzi, Giorgia, Lin, Alice A., Al-Zahery, Nadia, Battaglia, Vincenza, Maccioni, Liliana, Triantaphyllidis, Costas, Shen, Peidong, Oefner, Peter J., Zhivotovsky, Lev A., King, Roy, Torroni, Antonio, Cavalli-Sforza, L. Luca, Underhill, Peter A., Santachiara-Benerecetti, A. Silvana
Publicado em 2004

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections

Por Dinwiddie, Darrell L., Kingsmore, Stephen F., Caracciolo, Sonia, Rossi, Giuseppe, Moratto, Daniele, Mazza, Cinzia, Sabelli, Cristiano, Bacchetta, Rosa, Passerini, Laura, Magri, Chiara, Bell, Callum J., Miller, Neil A., Hateley, Shannon L., Saunders, Carol J., Zhang, Lu, Schroth, Gary P., Barlati, Sergio, Badolato, Raffaele
Publicado em 2013

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

Por Achilli, Alessandro, Rengo, Chiara, Magri, Chiara, Battaglia, Vincenza, Olivieri, Anna, Scozzari, Rosaria, Cruciani, Fulvio, Zeviani, Massimo, Briem, Egill, Carelli, Valerio, Moral, Pedro, Dugoujon, Jean-Michel, Roostalu, Urmas, Loogväli, Eva-Liis, Kivisild, Toomas, Bandelt, Hans-Jürgen, Richards, Martin, Villems, Richard, Santachiara-Benerecetti, A. Silvana, Semino, Ornella, Torroni, Antonio
Publicado em 2004

Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe

Por Rootsi, Siiri, Magri, Chiara, Kivisild, Toomas, Benuzzi, Giorgia, Help, Hela, Bermisheva, Marina, Kutuev, Ildus, Barać, Lovorka, Peričić, Marijana, Balanovsky, Oleg, Pshenichnov, Andrey, Dion, Daniel, Grobei, Monica, Zhivotovsky, Lev A., Battaglia, Vincenza, Achilli, Alessandro, Al-Zahery, Nadia, Parik, Jüri, King, Roy, Cinnioğlu, Cengiz, Khusnutdinova, Elsa, Rudan, Pavao, Balanovska, Elena, Scheffrahn, Wolfgang, Simonescu, Maya, Brehm, Antonio, Goncalves, Rita, Rosa, Alexandra, Moisan, Jean-Paul, Chaventre, Andre, Ferak, Vladimir, Füredi, Sandor, Oefner, Peter J., Shen, Peidong, Beckman, Lars, Mikerezi, Ilia, Terzić, Rifet, Primorac, Dragan, Cambon-Thomsen, Anne, Krumina, Astrida, Torroni, Antonio, Underhill, Peter A., Santachiara-Benerecetti, A. Silvana, Villems, Richard, Semino, Ornella
Publicado em 2004

Genome-wide association study identifies novel locus for neuroticism and shows polygenic association with Major Depressive Disorder

Por de Moor, Marleen H.M., van den Berg, Stéphanie M., Verweij, Karin J.H., Krueger, Robert F., Luciano, Michelle, Vasquez, Alejandro Arias, Matteson, Lindsay K., Derringer, Jaime, Esko, Tõnu, Amin, Najaf, Gordon, Scott D., Hansell, Narelle K., Hart, Amy B., Seppälä, Ilkka, Huffman, Jennifer E., Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abecasis, Goncalo R., Adkins, Daniel E., Agrawal, Arpana, Allik, Jüri, Appel, Katja, Bigdeli, Timothy B., Busonero, Fabio, Campbell, Harry, Costa, Paul T., Smith, George Davey, Davies, Gail, de Wit, Harriet, Ding, Jun, Engelhardt, Barbara E., Eriksson, Johan G., Fedko, Iryna O., Ferrucci, Luigi, Franke, Barbara, Giegling, Ina, Grucza, Richard, Hartmann, Annette M., Heath, Andrew C., Heinonen, Kati, Henders, Anjali K., Homuth, Georg, Hottenga, Jouke-Jan, Janzing, Joost, Jokela, Markus, Karlsson, Robert, Kemp, John P., Kirkpatrick, Matthew G., Latvala, Antti, Lehtimäki, Terho, Liewald, David C., Madden, Pamela A.F., Magri, Chiara, Magnusson, Patrik K.E., Marten, Jonathan, Maschio, Andrea, Medland, Sarah E., Mihailov, Evelin, Milaneschi, Yuri, Montgomery, Grant W., Nauck, Matthias, Ouwens, Klaasjan G., Palotie, Aarno, Pettersson, Erik, Polasek, Ozren, Qian, Yong, Pulkki-Råback, Laura, Raitakari, Olli T., Realo, Anu, Rose, Richard J., Ruggiero, Daniela, Schmidt, Carsten O., Slutske, Wendy S., Sorice, Rossella, Starr, John M., Pourcain, Beate St, Sutin, Angelina R., Timpson, Nicholas J., Trochet, Holly, Vermeulen, Sita, Vuoksimaa, Eero, Widen, Elisabeth, Wouda, Jasper, Wright, Margaret J., Zgaga, Lina, Scotland, Generation, Porteous, David, Minelli, Alessandra, Palmer, Abraham A., Rujescu, Dan, Ciullo, Marina, Hayward, Caroline, Rudan, Igor, Metspalu, Andres, Kaprio, Jaakko, Deary, Ian J., Räikkönen, Katri, Wilson, James F., Keltikangas-Järvinen, Liisa, Bierut, Laura J., Hettema, John M., Grabe, Hans J., van Duijn, Cornelia M., Evans, David M., Schlessinger, David, Pedersen, Nancy L., Terracciano, Antonio, McGue, Matt, Penninx, Brenda W.J.H., Martin, Nicholas G., Boomsma, Dorret I.
Publicado no JAMA Psychiatry (2015)

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

Por van den Berg, Stéphanie M., de Moor, Marleen H. M., Verweij, Karin J. H., Krueger, Robert F., Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K., Derringer, Jaime, Esko, Tõnu, Amin, Najaf, Gordon, Scott D., Hansell, Narelle K., Hart, Amy B., Seppälä, Ilkka, Huffman, Jennifer E., Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abdellaoui, Abdel, Abecasis, Goncalo R., Adkins, Daniel E., Agrawal, Arpana, Allik, Jüri, Appel, Katja, Bigdeli, Timothy B., Busonero, Fabio, Campbell, Harry, Costa, Paul T., Smith, George Davey, Davies, Gail, de Wit, Harriet, Ding, Jun, Engelhardt, Barbara E., Eriksson, Johan G., Fedko, Iryna O., Ferrucci, Luigi, Franke, Barbara, Giegling, Ina, Grucza, Richard, Hartmann, Annette M., Heath, Andrew C., Heinonen, Kati, Henders, Anjali K., Homuth, Georg, Hottenga, Jouke-Jan, Iacono, William G., Janzing, Joost, Jokela, Markus, Karlsson, Robert, Kemp, John P., Kirkpatrick, Matthew G., Latvala, Antti, Lehtimäki, Terho, Liewald, David C., Madden, Pamela A. F., Magri, Chiara, Magnusson, Patrik K. E., Marten, Jonathan, Maschio, Andrea, Mbarek, Hamdi, Medland, Sarah E., Mihailov, Evelin, Milaneschi, Yuri, Montgomery, Grant W., Nauck, Matthias, Nivard, Michel G., Ouwens, Klaasjan G., Palotie, Aarno, Pettersson, Erik, Polasek, Ozren, Qian, Yong, Pulkki-Råback, Laura, Raitakari, Olli T., Realo, Anu, Rose, Richard J., Ruggiero, Daniela, Schmidt, Carsten O., Slutske, Wendy S., Sorice, Rossella, Starr, John M., St Pourcain, Beate, Sutin, Angelina R., Timpson, Nicholas J., Trochet, Holly, Vermeulen, Sita, Vuoksimaa, Eero, Widen, Elisabeth, Wouda, Jasper, Wright, Margaret J., Zgaga, Lina, Porteous, David, Minelli, Alessandra, Palmer, Abraham A., Rujescu, Dan, Ciullo, Marina, Hayward, Caroline, Rudan, Igor, Metspalu, Andres, Kaprio, Jaakko, Deary, Ian J., Räikkönen, Katri, Wilson, James F., Keltikangas-Järvinen, Liisa, Bierut, Laura J., Hettema, John M., Grabe, Hans J., Penninx, Brenda W. J. H., van Duijn, Cornelia M., Evans, David M., Schlessinger, David, Pedersen, Nancy L., Terracciano, Antonio, McGue, Matt, Martin, Nicholas G., Boomsma, Dorret I.
Publicado no Behav Genet (2015)