Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells von Ottolenghi, Chris, Pelosi, Emanuele, Tran, Joseph, Colombino, Maria, Douglass, Eric, Nedorezov, Timur, Cao, Antonio, Forabosco, Antonino, Schlessinger, David

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DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease von Lettre, Guillaume, Sankaran, Vijay G, Bezerra, Marcos André C, Araújo, Aderson S, Uda, Manuela, Sanna, Serena, Cao, Antonio, Schlessinger, David, Costa, Fernando F, Hirschhorn, Joel N, Orkin, Stuart H

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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits von Scuteri, Angelo, Sanna, Serena, Chen, Wei-Min, Uda, Manuela, Albai, Giuseppe, Strait, James, Najjar, Samer, Nagaraja, Ramaiah, Orrú, Marco, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Maschio, Andrea, Busonero, Fabio, Mulas, Antonella, Ehret, Georg B, Fink, Ashley A, Weder, Alan B, Cooper, Richard S, Galan, Pilar, Chakravarti, Aravinda, Schlessinger, David, Cao, Antonio, Lakatta, Edward, Abecasis, Gonçalo R

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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia von Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

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A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation von Naitza, Silvia, Porcu, Eleonora, Steri, Maristella, Taub, Dennis D, Mulas, Antonella, Xiao, Xiang, Strait, James, Dei, Mariano, Lai, Sandra, Busonero, Fabio, Maschio, Andrea, Usala, Gianluca, Zoledziewska, Magdalena, Sidore, Carlo, Zara, Ilenia, Pitzalis, Maristella, Loi, Alessia, Virdis, Francesca, Piras, Roberta, Deidda, Francesca, Whalen, Michael B, Crisponi, Laura, Concas, Antonio, Podda, Carlo, Uzzau, Sergio, Scheet, Paul, Longo, Dan L, Lakatta, Edward, Abecasis, Gonçalo R, Cao, Antonio, Schlessinger, David, Uda, Manuela, Sanna, Serena, Cucca, Francesco

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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron von Melis, Maria Antonietta, Cau, Milena, Congiu, Rita, Sole, Gabriella, Barella, Susanna, Cao, Antonio, Westerman, Mark, Cazzola, Mario, Galanello, Renzo

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Heritability of cardiovascular and personality traits in 6,148 Sardinians von Pilia, Giuseppe, Chen, Wei-Min, Scuteri, Angelo, Orrú, Marco, Albai, Giuseppe, Dei, Mariano, Lai, Sandra, Usala, Gianluca, Lai, Monica, Loi, Paola, Mameli, Cinzia, Vacca, Loredana, Deiana, Manila, Olla, Nazario, Masala, Marco, Cao, Antonio, Najjar, Samer S, Terracciano, Antonio, Nedorezov, Timur, Sharov, Alexei, Zonderman, Alan B, Abecasis, Gonçalo R, Costa, Paul, Lakatta, Edward, Schlessinger, David

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KLF1 gene mutations cause borderline HbA2 von Perseu, Lucia, Satta, Stefania, Moi, Paolo, Demartis, Franca Rosa, Manunza, Laura, Sollaino, Maria Carla, Barella, Susanna, Cao, Antonio, Galanello, Renzo

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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts von Li, Siguang, Sanna, Serena, Maschio, Andrea, Busonero, Fabio, Usala, Gianluca, Mulas, Antonella, Lai, Sandra, Dei, Mariano, Orrù, Marco, Albai, Giuseppe, Bandinelli, Stefania, Schlessinger, David, Lakatta, Edward, Scuteri, Angelo, Najjar, Samer S, Guralnik, Jack, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin von SATTA, Stefania, PERSEU, Lucia, MOI, Paolo, ASUNIS, Isadora, CABRIOLU, Annalisa, MACCIONI, Liliana, ROSA DEMARTIS, Franca, MANUNZA, Laura, CAO, Antonio, GALANELLO, Renzo

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome von Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain

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Beta-thalassemia von Cao, Antonio, Galanello, Renzo

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Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis von Porcu, Susanna, Manchinu, Maria F., Marongiu, Maria F., Sogos, Valeria, Poddie, Daniela, Asunis, Isadora, Porcu, Loredana, Marini, Maria G., Moi, Paolo, Cao, Antonio, Grosveld, Frank, Ristaldi, Maria S.

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Recent advances in β-thalassemias von Cao, Antonio, Moi, Paolo, Galanello, Renzo

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In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice von Manchinu, Maria F, Marongiu, Maria F, Poddie, Daniela, Casu, Carla, Latini, Veronica, Simbula, Michela, Galanello, Renzo, Moi, Paolo, Cao, Antonio, Porcu, Susanna, Ristaldi, Maria S

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The prevention of thalassemia von Cao, Antonio, Kan, Yuet Wai

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The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity von Marongiu, Mara, Deiana, Manila, Meloni, Alessandra, Marcia, Loredana, Puddu, Alessandro, Cao, Antonio, Schlessinger, David, Crisponi, Laura

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Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ge... von Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A.Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M.Cristina

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Alpha-thalassemia von Galanello, Renzo, Cao, Antonio

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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28 von Kwok, Pui-Yan, Taillon-Miller, Patricia, Bauer-Sardiña, Irma, Saccone, Nancy L, Putzel, Jenna, Laitinen, Tarja, Cao, Antonio, Kere, Juha, Pilia, Giuseppe, Rice, John P

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