Works by Micalizzi, Alessia

Results: 19
    1

    Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.

    Published in:
    Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
    By:
    • Nuovo, Sara;
    • Baglioni, Valentina;
    • De Mori, Roberta;
    • Tardivo, Silvia;
    • Caputi, Caterina;
    • Ginevrino, Monia;
    • Micalizzi, Alessia;
    • Masuelli, Laura;
    • Federici, Giulia;
    • Casella, Antonella;
    • Lorefice, Elisa;
    • Anello, Danila;
    • Tolve, Manuela;
    • Farini, Donatella;
    • Bertini, Enrico;
    • Zanni, Ginevra;
    • Travaglini, Lorena;
    • Vasco, Gessica;
    • Sette, Claudio;
    • Carducci, Carla
    Publication type:
    Article
    2

    Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
    By:
    • Nuovo, Sara;
    • Fuiano, Laura;
    • Micalizzi, Alessia;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Borgatti, Renato;
    • Caridi, Gianluca;
    • D'Arrigo, Stefano;
    • Fazzi, Elisa;
    • Fischetto, Rita;
    • Ghiggeri, Gian Marco;
    • Giordano, Lucio;
    • Leuzzi, Vincenzo;
    • Romaniello, Romina;
    • Signorini, Sabrina;
    • Stringini, Gilda;
    • Zanni, Ginevra;
    • Romani, Marta;
    • Valente, Enza Maria;
    • Emma, Francesco
    Publication type:
    Article
    3

    Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

    Published in:
    Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3
    By:
    • Romani, Marta;
    • Mancini, Francesca;
    • Micalizzi, Alessia;
    • Poretti, Andrea;
    • Miccinilli, Elide;
    • Accorsi, Patrizia;
    • Avola, Emanuela;
    • Bertini, Enrico;
    • Borgatti, Renato;
    • Romaniello, Romina;
    • Ceylaner, Serdar;
    • Coppola, Giangennaro;
    • D'Arrigo, Stefano;
    • Giordano, Lucio;
    • Janecke, Andreas;
    • Lituania, Mario;
    • Ludwig, Kathrin;
    • Martorell, Loreto;
    • Mazza, Tommaso;
    • Odent, Sylvie
    Publication type:
    Article
    4

    Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
    By:
    • Flex, Elisabetta;
    • Albadri, Shahad;
    • Radio, Francesca Clementina;
    • Cecchetti, Serena;
    • Lauri, Antonella;
    • Priolo, Manuela;
    • Kissopoulos, Marta;
    • Carpentieri, Giovanna;
    • Fasano, Giulia;
    • Venditti, Martina;
    • Magliocca, Valentina;
    • Bellacchio, Emanuele;
    • Welch, Carrie L;
    • Colombo, Paolo C;
    • Kochav, Stephanie M;
    • Chang, Richard;
    • Barrick, Rebekah;
    • Trivisano, Marina;
    • Micalizzi, Alessia;
    • Borghi, Rossella
    Publication type:
    Article
    5
    6
    7

    A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
    By:
    • Thomas, Sophie;
    • Wright, Kevin J.;
    • Corre, Stéphanie Le;
    • Micalizzi, Alessia;
    • Romani, Marta;
    • Abhyankar, Avinash;
    • Saada, Julien;
    • Perrault, Isabelle;
    • Amiel, Jeanne;
    • Litzler, Julie;
    • Filhol, Emilie;
    • Elkhartoufi, Nadia;
    • Kwong, Mandy;
    • Casanova, Jean‐Laurent;
    • Boddaert, Nathalie;
    • Baehr, Wolfgang;
    • Lyonnet, Stanislas;
    • Munnich, Arnold;
    • Burglen, Lydie;
    • Chassaing, Nicolas
    Publication type:
    Article
    8

    Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

    Published in:
    2017
    By:
    • Romaniello, Romina;
    • Arrigoni, Filippo;
    • Panzeri, Elena;
    • Poretti, Andrea;
    • Micalizzi, Alessia;
    • Citterio, Andrea;
    • Bedeschi, Maria;
    • Berardinelli, Angela;
    • Cusmai, Raffaella;
    • D'Arrigo, Stefano;
    • Ferraris, Alessandro;
    • Hackenberg, Annette;
    • Kuechler, Alma;
    • Mancardi, Margherita;
    • Nuovo, Sara;
    • Oehl-Jaschkowitz, Barbara;
    • Rossi, Andrea;
    • Signorini, Sabrina;
    • Tüttelmann, Frank;
    • Wahl, Dagmar
    Publication type:
    journal article
    9

    Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

    Published in:
    2017
    By:
    • Romaniello, Romina;
    • Arrigoni, Filippo;
    • Panzeri, Elena;
    • Poretti, Andrea;
    • Micalizzi, Alessia;
    • Citterio, Andrea;
    • Bedeschi, Maria;
    • Berardinelli, Angela;
    • Cusmai, Raffaella;
    • D'Arrigo, Stefano;
    • Ferraris, Alessandro;
    • Hackenberg, Annette;
    • Kuechler, Alma;
    • Mancardi, Margherita;
    • Nuovo, Sara;
    • Oehl-Jaschkowitz, Barbara;
    • Rossi, Andrea;
    • Signorini, Sabrina;
    • Tüttelmann, Frank;
    • Wahl, Dagmar
    Publication type:
    journal article
    10

    Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
    By:
    • Sinibaldi, Lorenzo;
    • Garone, Giacomo;
    • Mandarino, Alessandra;
    • Iarossi, Giancarlo;
    • Chioma, Laura;
    • Dentici, Maria Lisa;
    • Merla, Giuseppe;
    • Agolini, Emanuele;
    • Micalizzi, Alessia;
    • Mancini, Cecilia;
    • Niceta, Marcello;
    • Macchiaiolo, Marina;
    • Diodato, Daria;
    • Onesimo, Roberta;
    • Blandino, Rita;
    • Delogu, Angelica Bibiana;
    • De Rosa, Gabriella;
    • Trevisan, Valentina;
    • Iademarco, Mariella;
    • Zampino, Giuseppe
    Publication type:
    Article
    11
    12
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    14

    Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

    Published in:
    Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
    By:
    • Calcagni, Giulio;
    • Ferrigno, Federica;
    • Franceschini, Alessio;
    • Dentici, Maria Lisa;
    • Capolino, Rossella;
    • Sinibaldi, Lorenzo;
    • Minotti, Chiara;
    • Micalizzi, Alessia;
    • Alesi, Viola;
    • Novelli, Antonio;
    • Baban, Anwar;
    • Parlapiano, Giovanni;
    • Coviello, Domenico;
    • Versacci, Paolo;
    • Putotto, Carolina;
    • Chinali, Marcello;
    • Drago, Fabrizio;
    • Bartuli, Andrea;
    • Marino, Bruno;
    • Digilio, Maria Cristina
    Publication type:
    Article
    15

    Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
    By:
    • Contrò, Gianluca;
    • Micalizzi, Alessia;
    • Giangiobbe, Sara;
    • Caraffi, Stefano Giuseppe;
    • Zuntini, Roberta;
    • Rosato, Simonetta;
    • Pollazzon, Marzia;
    • Terracciano, Alessandra;
    • Napoli, Manuela;
    • Rizzi, Susanna;
    • Salerno, Grazia Gabriella;
    • Radio, Francesca Clementina;
    • Niceta, Marcello;
    • Parrini, Elena;
    • Fusco, Carlo;
    • Gargano, Giancarlo;
    • Guerrini, Renzo;
    • Tartaglia, Marco;
    • Novelli, Antonio;
    • Zuffardi, Orsetta
    Publication type:
    Article
    16

    Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

    Published in:
    2022
    By:
    • Bainbridge, Matthew N;
    • Mazumder, Aloran;
    • Ogasawara, Daisuke;
    • Jamra, Rami Abou;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Burglen, Lydie;
    • Cope, Heidi;
    • Crawford, Ali;
    • Derksen, Alexa;
    • Dure, Leon;
    • Gantz, Emily;
    • Koch-Hogrebe, Margarete;
    • Hurst, Anna C E;
    • Mahida, Sonal;
    • Marshall, Paige;
    • Micalizzi, Alessia;
    • Novelli, Antonio;
    • Peng, Hongfan;
    • Medicine, Rady Children's Institute for Genomic
    Publication type:
    journal article
    17

    Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

    Published in:
    2019
    By:
    • Mori, Roberta De;
    • Severino, Mariasavina;
    • Mancardi, Maria Margherita;
    • Anello, Danila;
    • Tardivo, Silvia;
    • Biagini, Tommaso;
    • Capra, Valeria;
    • Casella, Antonella;
    • Cereda, Cristina;
    • Copeland, Brett R;
    • Gagliardi, Stella;
    • Gamucci, Alessandra;
    • Ginevrino, Monia;
    • Illi, Barbara;
    • Lorefice, Elisa;
    • Musaev, Damir;
    • Stanley, Valentina;
    • Micalizzi, Alessia;
    • Gleeson, Joseph G;
    • Mazza, Tommaso
    Publication type:
    journal article
    18

    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
    By:
    • Romani, Marta;
    • Micalizzi, Alessia;
    • Kraoua, Ichraf;
    • Dotti, Maria Teresa;
    • Cavallin, Mara;
    • Sztriha, László;
    • Ruta, Rosario;
    • Mancini, Francesca;
    • Mazza, Tommaso;
    • Castellana, Stefano;
    • Hanene, Benrhouma;
    • Carluccio, Maria Alessandra;
    • Darra, Francesca;
    • Máté, Adrienn;
    • Zimmermann, Alíz;
    • Gouider-Khouja, Neziha;
    • Valente, Enza Maria
    Publication type:
    Article
    19