Works matching AU Brusco, Alfredo

Results: 97
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    Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
    By:
    • Hardcastle, Amy;
    • Berry, Aliska M.;
    • Campbell, Ian M.;
    • Zhao, Xiaonan;
    • Liu, Pengfei;
    • Gerard, Amanda E.;
    • Rosenfeld, Jill A.;
    • Sisoudiya, Saumya D.;
    • Hernandez‐Garcia, Andres;
    • Loddo, Sara;
    • Di Tommaso, Silvia;
    • Novelli, Antonio;
    • Dentici, Maria L.;
    • Capolino, Rossella;
    • Digilio, Maria C.;
    • Graziani, Ludovico;
    • Rustad, Cecilie F.;
    • Neas, Katherine;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo
    Publication type:
    Article
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    A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

    Published in:
    Movement Disorders, 2012, v. 27, n. 10, p. 1312, doi. 10.1002/mds.25126
    By:
    • Zannolli, Raffaella;
    • Sabrina Buoni;
    • Betti, Gianni;
    • Salvucci, Sara;
    • Plebani, Alessandro;
    • Soresina, Annarosa;
    • Pietrogrande, Maria C.;
    • Martino, Silvana;
    • Leuzzi, Vincenzo;
    • Finocchi, Andrea;
    • Micheli, Roberto;
    • Rossi, Livia Nicoletta;
    • Brusco, Alfredo;
    • Misiani, Filippo;
    • Fois, Alberto;
    • Hayek, Joseph;
    • Kelly, Colleen;
    • Chessa, Luciana
    Publication type:
    Article
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    Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

    Published in:
    Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
    By:
    • Grassini, Alberto;
    • Cermelli, Aurora;
    • Roveta, Fausto;
    • Zotta, Michela;
    • Lesca, Adriana;
    • Marcinnò, Andrea;
    • Ferrandes, Fabio;
    • Piella, Elisa;
    • Boschi, Silvia;
    • Lombardo, Chiara;
    • Brusco, Alfredo;
    • Gallone, Salvatore;
    • Rubino, Elisa;
    • Bruni, Amalia;
    • Rainero, Innocenzo
    Publication type:
    Article
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    Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 3, p. 354, doi. 10.1111/cge.14654
    By:
    • Pavinato, Lisa;
    • Carestiato, Silvia;
    • Trajkova, Slavica;
    • Sorasio, Lorena;
    • Mantovani, Giovanna;
    • De Sanctis, Luisa;
    • Kerkhof, Jennifer;
    • McConkey, Haley;
    • Rzasa, Jessica;
    • Todd, Emily;
    • Balzo, Maria;
    • Cardaropoli, Simona;
    • Bruselles, Alessandro;
    • De Rubeis, Silvia;
    • Buxbaum, Joseph D.;
    • Tartaglia, Marco;
    • Sadikovic, Bekim;
    • Ferrero, Giovanni Battista;
    • Brusco, Alfredo
    Publication type:
    Article
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    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1025, doi. 10.1038/ejhg.2014.237
    By:
    • Vetro, Annalisa;
    • Dehghani, Mohammad Reza;
    • Kraoua, Lilia;
    • Giorda, Roberto;
    • Beri, Silvana;
    • Cardarelli, Laura;
    • Merico, Maurizio;
    • Manolakos, Emmanouil;
    • Parada-Bustamante, Alexis;
    • Castro, Andrea;
    • Radi, Orietta;
    • Camerino, Giovanna;
    • Brusco, Alfredo;
    • Sabaghian, Marjan;
    • Sofocleous, Crystalena;
    • Forzano, Francesca;
    • Palumbo, Pietro;
    • Palumbo, Orazio;
    • Calvano, Savino;
    • Zelante, Leopoldo
    Publication type:
    Article
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    Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

    Published in:
    Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544
    By:
    • Di Bella, Daniela;
    • Lazzaro, Federico;
    • Brusco, Alfredo;
    • Plumari, Massimo;
    • Battaglia, Giorgio;
    • Pastore, Annalisa;
    • Finardi, Adele;
    • Cagnoli, Claudia;
    • Tempia, Filippo;
    • Frontali, Marina;
    • Veneziano, Liana;
    • Sacco, Tiziana;
    • Boda, Enrica;
    • Brussino, Alessandro;
    • Bonn, Florian;
    • Castellotti, Barbara;
    • Baratta, Silvia;
    • Mariotti, Caterina;
    • Gellera, Cinzia;
    • Fracasso, Valentina
    Publication type:
    Article
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    X chromosome dosage and presence of <italic>SRY</italic> shape sex-specific differences in DNA methylation at an autosomal region in human cells.

    Published in:
    Biology of Sex Differences, 2018, v. 9, p. 1, doi. 10.1186/s13293-018-0169-7
    By:
    • Ho, Bianca;
    • Greenlaw, Keelin;
    • Al Tuwaijri, Abeer;
    • Moussette, Sanny;
    • Martínez, Francisco;
    • Giorgio, Elisa;
    • Brusco, Alfredo;
    • Ferrero, Giovanni Battista;
    • Linhares, Natália D.;
    • Valadares, Eugênia R.;
    • Svartman, Marta;
    • Kalscheuer, Vera M.;
    • Rodríguez Criado, Germán;
    • Laprise, Catherine;
    • Greenwood, Celia M. T.;
    • Naumova, Anna K.
    Publication type:
    Article
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    MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
    By:
    • Mussa, Alessandro;
    • Carli, Diana;
    • Giorgio, Elisa;
    • Villar, Anna Maria;
    • Cardaropoli, Simona;
    • Carbonara, Caterina;
    • Campagnoli, Maria Francesca;
    • Galletto, Paolo;
    • Palumbo, Martina;
    • Olivieri, Simone;
    • Isella, Claudio;
    • Andelfinger, Gregor;
    • Tartaglia, Marco;
    • Botta, Giovanni;
    • Brusco, Alfredo;
    • Medico, Enzo;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

    Published in:
    Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-020-01257-z
    By:
    • Carli, Diana;
    • Moroni, Alice;
    • Eleonora, Di Gregorio;
    • Zonta, Andrea;
    • Montin, Davide;
    • Licciardi, Francesco;
    • Aidala, Enrico;
    • Bordese, Roberto;
    • Carlo, Pace Napoleone;
    • Brusco, Alfredo;
    • Giovanni Battista, Ferrero;
    • Mussa, Alessandro
    Publication type:
    Article
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    A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7631, doi. 10.3390/ijms21207631
    By:
    • Antona, Vincenzo;
    • Scalia, Federica;
    • Giorgio, Elisa;
    • Radio, Francesca C.;
    • Brusco, Alfredo;
    • Oliveri, Massimiliano;
    • Corsello, Giovanni;
    • Lo Celso, Fabrizio;
    • Vadalà, Maria;
    • Conway de Macario, Everly;
    • Macario, Alberto J. L.;
    • Cappello, Francesco;
    • Giuffrè, Mario
    Publication type:
    Article
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    Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene ( CLN5) mutations.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 1, p. 173, doi. 10.1007/s00415-014-7553-y
    By:
    • Mancini, Cecilia;
    • Nassani, Stefano;
    • Guo, Yiran;
    • Chen, Yulan;
    • Giorgio, Elisa;
    • Brussino, Alessandro;
    • Di Gregorio, Eleonora;
    • Cavalieri, Simona;
    • Lo Buono, Nicola;
    • Funaro, Ada;
    • Pizio, Nicola;
    • Nmezi, Bruce;
    • Kyttala, Aija;
    • Santorelli, Filippo;
    • Padiath, Quasar;
    • Hakonarson, Hakon;
    • Zhang, Hao;
    • Brusco, Alfredo
    Publication type:
    Article
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    Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.

    Published in:
    Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 10, doi. 10.1159/000442308
    By:
    • Di Gregorio, Eleonora;
    • Gai, Giorgia;
    • Botta, Giovanni;
    • Calcia, alessandro;
    • Pappi, Patrizia;
    • Talarico, Flavia;
    • Savin, Elisa;
    • Ribotta, Marisa;
    • Zonta, andrea;
    • Mancini, Cecilia;
    • Giorgio, Elisa;
    • Cavalieri, Simona;
    • Restagno, Gabriella;
    • Ferrero, Giovanni B.;
    • Viora, Elsa;
    • Pasini, Barbara;
    • Grosso, Enrico;
    • Brusco, alfredo;
    • Brussino, alessandro
    Publication type:
    Article
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    Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
    By:
    • Melo, Uirá Souto;
    • Jatzlau, Jerome;
    • Prada-Medina, Cesar A.;
    • Flex, Elisabetta;
    • Hartmann, Sunhild;
    • Ali, Salaheddine;
    • Schöpflin, Robert;
    • Bernardini, Laura;
    • Ciolfi, Andrea;
    • Moeinzadeh, M-Hossein;
    • Klever, Marius-Konstantin;
    • Altay, Aybuge;
    • Vallecillo-García, Pedro;
    • Carpentieri, Giovanna;
    • Delledonne, Massimo;
    • Ort, Melanie-Jasmin;
    • Schwestka, Marko;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Article
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    A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
    By:
    • Biamino, Elisa;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Keller, Roberto;
    • Riberi, Evelise;
    • Gandione, Marina;
    • Calcia, Alessandro;
    • Mancini, Cecilia;
    • Giorgio, Elisa;
    • Cavalieri, Simona;
    • Pappi, Patrizia;
    • Talarico, Flavia;
    • Fea, Antonio M.;
    • De Rubeis, Silvia;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Brusco, Alfredo
    Publication type:
    Article
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    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
    By:
    • Bassani, Sissy;
    • Chrast, Jacqueline;
    • Ambrosini, Giovanna;
    • Voisin, Norine;
    • Schütz, Frédéric;
    • Brusco, Alfredo;
    • Sirchia, Fabio;
    • Turban, Lydia;
    • Schubert, Susanna;
    • Abou Jamra, Rami;
    • Schlump, Jan-Ulrich;
    • DeMille, Desiree;
    • Bayrak-Toydemir, Pinar;
    • Nelson, Gary Rex;
    • Wong, Kristen Nicole;
    • Duncan, Laura;
    • Mosera, Mackenzie;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • Pfundt, Rolph
    Publication type:
    Article
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    Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
    By:
    • Melo, Uirá Souto;
    • Jatzlau, Jerome;
    • Prada-Medina, Cesar A.;
    • Flex, Elisabetta;
    • Hartmann, Sunhild;
    • Ali, Salaheddine;
    • Schöpflin, Robert;
    • Bernardini, Laura;
    • Ciolfi, Andrea;
    • Moeinzadeh, M-Hossein;
    • Klever, Marius-Konstantin;
    • Altay, Aybuge;
    • Vallecillo-García, Pedro;
    • Carpentieri, Giovanna;
    • Delledonne, Massimo;
    • Ort, Melanie-Jasmin;
    • Schwestka, Marko;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Article
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    Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

    Published in:
    2023
    By:
    • Melo, Uirá Souto;
    • Jatzlau, Jerome;
    • Prada-Medina, Cesar A.;
    • Flex, Elisabetta;
    • Hartmann, Sunhild;
    • Ali, Salaheddine;
    • Schöpflin, Robert;
    • Bernardini, Laura;
    • Ciolfi, Andrea;
    • Moeinzadeh, M-Hossein;
    • Klever, Marius-Konstantin;
    • Altay, Aybuge;
    • Vallecillo-García, Pedro;
    • Carpentieri, Giovanna;
    • Delledonne, Massimo;
    • Ort, Melanie-Jasmin;
    • Schwestka, Marko;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Correction Notice
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    CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity.

    Published in:
    EMBO Molecular Medicine, 2021, v. 13, n. 11, p. 1, doi. 10.15252/emmm.202114095
    By:
    • Perez, Barbara A;
    • Shorrock, Hannah K;
    • Banez‐Coronel, Monica;
    • Zu, Tao;
    • Romano, Lisa EL;
    • Laboissonniere, Lauren A;
    • Reid, Tammy;
    • Ikeda, Yoshio;
    • Reddy, Kaalak;
    • Gomez, Christopher M;
    • Bird, Thomas;
    • Ashizawa, Tetsuo;
    • Schut, Lawrence J;
    • Brusco, Alfredo;
    • Berglund, J Andrew;
    • Hasholt, Lis F;
    • Nielsen, Jorgen E;
    • Subramony, SH;
    • Ranum, Laura PW
    Publication type:
    Article
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    Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.

    Published in:
    Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00212
    By:
    • Alfieri, Annalisa;
    • Sorokina, Oksana;
    • Adrait, Annie;
    • Angelini, Costanza;
    • Russo, Isabella;
    • Morellato, Alessandro;
    • Matteoli, Michela;
    • Menna, Elisabetta;
    • Erba, Elisabetta Boeri;
    • McLean, Colin;
    • Armstrong, J. Douglas;
    • Ala, Ugo;
    • Buxbaum, Joseph D.;
    • Brusco, Alfredo;
    • Couté, Yohann;
    • De Rubeis, Silvia;
    • Turco, Emilia;
    • Defilippi, Paola
    Publication type:
    Article
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    Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

    Published in:
    Human Mutation, 1998, v. 12, n. 4, p. 267, doi. 10.1002/(SICI)1098-1004(1998)12:4&lt;267::AID-HUMU8&gt;3.0.CO;2-C
    By:
    • Dianzani, Irma;
    • de Sanctis, Luisa;
    • Smooker, Peter M.;
    • Gough, Tamara J.;
    • Alliaudi, Carla;
    • Brusco, Alfredo;
    • Spada, Marco;
    • Blau, Nenad;
    • Dobos, Marion;
    • Zhang, Hong-Ping;
    • Yang, Nan;
    • Ponzone, Alberto;
    • Armarego, Wilfred L. F.;
    • Cotton, Richard G. H.
    Publication type:
    Article
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    COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.

    Published in:
    Kidney International, 2002, v. 61, n. 6, p. 1947, doi. 10.1046/j.1523-1755.2002.00379.x
    By:
    • Longo, Ilaria;
    • Porcedda, Paola;
    • Mari, Francesca;
    • Giachino, Daniela;
    • Meloni, Ilaria;
    • Deplano, Carla;
    • Brusco, Alfredo;
    • Bosio, Maurizio;
    • Massella, Laura;
    • Lavoratti, Giancarlo;
    • Roccatello, Dario;
    • Frascá, Giovanni;
    • Mazzucco, Gianna;
    • Muda, Andrea Onetti;
    • Conti, Maura;
    • Fasciolo, Federica;
    • Arrondel, Christelle;
    • Heidet, Laurence;
    • Renieri, Alessandra;
    • De Marchi, Mario
    Publication type:
    Article
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    Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.

    Published in:
    Glia (0894-1491), 2021, v. 69, n. 10, p. 2419, doi. 10.1002/glia.24048
    By:
    • Hoxha, Eriola;
    • Balbo, Ilaria;
    • Parolisi, Roberta;
    • Audano, Matteo;
    • Montarolo, Francesca;
    • Ravera, Francesco;
    • Guglielmotto, Michela;
    • Muratori, Luisa;
    • Raimondo, Stefania;
    • DiGregorio, Eleonora;
    • Buffo, Annalisa;
    • Brusco, Alfredo;
    • Borroni, Barbara;
    • Mitro, Nico;
    • Caruso, Donatella;
    • Tempia, Filippo
    Publication type:
    Article
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    Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
    By:
    • Palombo, Flavia;
    • Graziano, Claudio;
    • Al Wardy, Nadia;
    • Nouri, Nayereh;
    • Marconi, Caterina;
    • Magini, Pamela;
    • Severi, Giulia;
    • La Morgia, Chiara;
    • Cantalupo, Gaetano;
    • Cordelli, Duccio Maria;
    • Gangarossa, Simone;
    • Al Kindi, Mohammed Nasser;
    • Al Khabouri, Mazin;
    • Salehi, Mansoor;
    • Giorgio, Elisa;
    • Brusco, Alfredo;
    • Pisani, Francesco;
    • Romeo, Giovanni;
    • Carelli, Valerio;
    • Pippucci, Tommaso
    Publication type:
    Article
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