Variation of the 3’RR1 HS1.2 Enhancer and Its Genomic Context
Jodice, Carla, Malaspina, Patrizia, Ciminelli, Bianca Maria, Martinez-Labarga, Cristina, Biancolella, Michela, Novelli, Giuseppe, Novelletto, Andrea
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Signs of continental ancestry in urban populations of Peru through autosomal STR loci and mitochondrial DNA typing
Messina, Francesco, Di Corcia, Tullia, Ragazzo, Michele, Sanchez Mellado, Cesar, Contini, Irene, Malaspina, Patrizia, Ciminelli, Bianca Maria, Rickards, Olga, Jodice, Carla
Published in PloS one (18.07.2018)
Published in PloS one (18.07.2018)
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Alcohol use disorder and GABAB receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies
Fabio Caputo, Bianca Maria Ciminelli, Carla Jodice, Paola Blasi, Teo Vignoli, Mauro Cibin, Giorgio Zoli, Patrizia Malaspina
Published in Annals of human biology (01.06.2017)
Published in Annals of human biology (01.06.2017)
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Anthropological features of the CFTR gene: Its variability in an African population
Maria Ciminelli, Bianca, Bombieri, Cristina, Ciccacci, Cinzia, Belpinati, Francesca, Pompei, Fiorenza, Maselli, Roberta, Simporé, Jacques, Pignatti, Pier Franco, Modiano, Guido
Published in Annals of human biology (01.03.2011)
Published in Annals of human biology (01.03.2011)
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Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease
Ciminelli, Bianca Maria, Menduti, Giovanna, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Squitti, Rosanna, Rongioletti, Mauro, Nica, Sabrina, Novelletto, Andrea, Rossi, Luisa, Malaspina, Patrizia
Published in Journal of Alzheimer's disease (01.01.2020)
Published in Journal of Alzheimer's disease (01.01.2020)
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Y-Chromosome STR Loci in Sardinia and Continental Italy Reveal Islander-Specific Haplotypes
Caglià, Alessandra, Novelletto, Andrea, Dobosz, Marina, Malaspina, Patrizia, Ciminelli, Bianca Maria, Pascali, Vincenzo L.
Published in European journal of human genetics : EJHG (01.09.1997)
Published in European journal of human genetics : EJHG (01.09.1997)
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Journal Article
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism
Viviani, Arianna, Colangelo, Luciano, Ciminelli, Bianca Maria, Novelletto, Andrea, Sonato, Chiara, Occhiuto, Marco, Cipriani, Cristiana, Diacinti, Daniele, De Martino, Viviana, Gianni, Walter, Pepe, Jessica, Minisola, Salvatore, Malaspina, Patrizia
Published in Endocrine (2023)
Published in Endocrine (2023)
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Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability
Menduti, Giovanna, Biamino, Elisa, Vittorini, Roberta, Vesco, Serena, Puccinelli, Maria Paola, Porta, Francesco, Capo, Concetta, Leo, Sara, Ciminelli, Bianca Maria, Iacovelli, Federico, Spada, Marco, Falconi, Mattia, Malaspina, Patrizia, Rossi, Luisa
Published in Molecular genetics and metabolism (01.07.2018)
Published in Molecular genetics and metabolism (01.07.2018)
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Journal Article
Novel mutations in two unrelated Italian patients with SSADH deficiency
Balzarini, Marta, Rovelli, Valentina, Paci, Sabrina, Rigoldi, Miriam, Sanna, Giuseppina, Pillai, Sara, Asunis, Marilisa, Parini, Rossella, Ciminelli, Bianca Maria, Malaspina, Patrizia
Published in Metabolic brain disease (01.10.2019)
Published in Metabolic brain disease (01.10.2019)
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Journal Article
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site
Leo, Sara, Capo, Concetta, Ciminelli, Bianca Maria, Iacovelli, Federico, Menduti, Giovanna, Funghini, Silvia, Donati, Maria Alice, Falconi, Mattia, Rossi, Luisa, Malaspina, Patrizia
Published in Metabolic brain disease (01.10.2017)
Published in Metabolic brain disease (01.10.2017)
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Journal Article
Alcohol use disorder and GABA B receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies
Caputo, Fabio, Ciminelli, Bianca Maria, Jodice, Carla, Blasi, Paola, Vignoli, Teo, Cibin, Mauro, Zoli, Giorgio, Malaspina, Patrizia
Published in Annals of human biology (01.06.2017)
Published in Annals of human biology (01.06.2017)
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Journal Article
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria
Modiano, David, Bancone, Germana, Ciminelli, Bianca Maria, Pompei, Fiorenza, Blot, Isa, Simporé, Jacques, Modiano, Guido
Published in Human molecular genetics (15.03.2008)
Published in Human molecular genetics (15.03.2008)
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Journal Article
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria
Modiano, David, Bancone, Germana, Ciminelli, Bianca Maria, Pompei, Fiorenza, Blot, Isa, Simporé, Jacques, Modiano, Guido
Published in Human molecular genetics (01.07.2008)
Published in Human molecular genetics (01.07.2008)
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Journal Article
The lower susceptibility to Plasmodium falciparum malaria of Fulani of Burkina Faso (West Africa) is associated with low frequencies of classic malaria-resistance genes
MODIANO, David, LUONI, Gaia, BIANCO, Ida, MODIANO, Guido, COLUZZI, Mario, SIRIMA, Bienvenu Sodiomon, LANFRANCOTTI, Alessandra, PETRARCA, Vincenzo, CRUCIANI, Fulvio, SIMPORE, Jacques, CIMINELLI, Bianca Maria, FOGLIETTA, Enrica, GRISANTI, Paola
Published in Transactions of the Royal Society of Tropical Medicine and Hygiene (01.03.2001)
Published in Transactions of the Royal Society of Tropical Medicine and Hygiene (01.03.2001)
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Journal Article
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
POMPEI, Fiorenza, CIMINELLI, Bianca Maria, CLAUSTRES, Mireille, FEREC, Claude, MACEK, Milan, MODIANO, Guido, PIGNATTI, Pier Franco, BOMBIERI, Cristina, CICCACCI, Cinzia, KOUDOVA, Monika, GIORGI, Silvia, BELPINATI, Francesca, BEGNINI, Angela, CERNY, Milos, DES GEORGES, Marie
Published in European journal of human genetics : EJHG (01.01.2006)
Published in European journal of human genetics : EJHG (01.01.2006)
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Journal Article
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
Modiano, Guido, Bombieri, Cristina, Ciminelli, Bianca Maria, Belpinati, Francesca, Giorgi, Silvia, Georges, Marie des, Scotet, Virginie, Pompei, Fiorenza, Ciccacci, Cinzia, Guittard, Caroline, Audrézet, Marie Pierre, Begnini, Angela, Toepfer, Michael, Macek, Milan, Ferec, Claude, Claustres, Mireille, Pignatti, Pier Franco
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
BOMBIERI, C, GIORGI, S, CASALS, T, POMPEI, F, GANDINI, G, CLAUSTRES, M, ESTIVILL, X, PIGNATTI, P. F, MODIANO, G, CARLES, S, DE CID, R, BELPINATI, F, TANDOI, C, PALLARES-RUIZ, N, LAZARO, C, CIMINELLI, B. M, ROMEY, M.-C
Published in Human genetics (01.02.2000)
Published in Human genetics (01.02.2000)
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Journal Article
Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution
Malaspina, Patrizia, Cruciani, Fulvio, Ciminelli, Bianca Maria, Terrenato, Luciano, Santolamazza, Piero, Alonso, Antonio, Banyko, Juraj, Brdicka, Radim, García, Oscar, Gaudiano, Carlo, Guanti, Ginevra, Kidd, Kenneth K., Lavinha, João, Avila, Madalena, Mandich, Paola, Moral, Pedro, Qamar, Raheel, Mehdi, Syed Q., Ragusa, Angela, Stefanescu, Gheorghe, Caraghin, Maria, Tyler-Smith, Chris, Scozzari, Rosaria, Novelletto, Andrea
Published in American journal of human genetics (01.09.1998)
Published in American journal of human genetics (01.09.1998)
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Journal Article
Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci
Scozzari, Rosaria, Cruciani, Fulvio, Malaspina, Patrizia, Santolamazza, Piero, Ciminelli, Bianca Maria, Torroni, Antonio, Modiano, David, Wallace, Douglas C., Kidd, Kenneth K., Olckers, Antonel, Moral, Pedro, Terrenato, Luciano, Akar, Nejat, Qamar, Raheel, Mansoor, Atika, Mehdi, Syed Q., Meloni, Gianfranco, Vona, Giuseppe, Cole, David E.C., Cai, Wangwei, Novelletto, Andrea
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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Journal Article
The lower susceptibility to Plasmpdium falciparum malaria of Fulani of Burkina Faso (West Africa) is associated with low frequencies of classic malaria-resistance genes
Modiano, David, Luoni, Gaia, Sirima, Bienvenu Sodiomon, Lanfrancotti, Alessandra, Petrarca, Vincenzo, Cruciani, Fulvio, Simporé, Jacques, Ciminelli, Bianca Maria, Foglietta, Enrica, Grisanti, Paola, Bianco, Ida, Modiano, Guido, Coluzzr, Mario
Published in Transactions of the Royal Society of Tropical Medicine and Hygiene (01.03.2001)
Published in Transactions of the Royal Society of Tropical Medicine and Hygiene (01.03.2001)
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