Found: 15

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  • Hair anomalies as a sign of mitochondrial disease.

    Published in:
    European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 459, doi. 10.1007/s00431-003-1228-5
    By:
    • Silengo, Margherita;
    • Valenzise, Mariella;
    • Spada, Marco;
    • Ferrero, Giovanni B.;
    • Ferraris, Silvio;
    • Dassi, Patrizia;
    • Jarre, Laura
    Publication type:
    Article

  • 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

  • Nomenclature and definition in asymmetric regional body overgrowth.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Article

  • Cover Image, Volume 173A, Number 7, July 2017.

    Published in:
    2017
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Other

  • Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

    Published in:
    Nature Genetics, 2009, v. 41, n. 9, p. 1022, doi. 10.1038/ng.425
    By:
    • Cordeddu, Viviana;
    • Di Schiavi, Elia;
    • Pennacchio, Len A.;
    • Ma'ayan, Avi;
    • Sarkozy, Anna;
    • Fodale, Valentina;
    • Cecchetti, Serena;
    • Cardinale, Alessio;
    • Martin, Joel;
    • Schackwitz, Wendy;
    • Lipzen, Anna;
    • Zampino, Giuseppe;
    • Mazzanti, Laura;
    • Digilio, Maria C.;
    • Martinelli, Simone;
    • Flex, Elisabetta;
    • Lepri, Francesca;
    • Bartholdi, Deborah;
    • Kutsche, Kerstin;
    • Ferrero, Giovanni B
    Publication type:
    Article

  • Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.

    Published in:
    Birth Defects Research, 2020, v. 112, n. 10, p. 725, doi. 10.1002/bdr2.1670
    By:
    • Calcagni, Giulio;
    • Gagliostro, Giulia;
    • Limongelli, Giuseppe;
    • Unolt, Marta;
    • De Luca, Enrica;
    • Digilio, Maria C.;
    • Baban, Anwar;
    • Albanese, Sonia B.;
    • Ferrero, Giovanni B.;
    • Baldassarre, Giuseppina;
    • Agnoletti, Gabriella;
    • Banaudi, Elena;
    • Marek, Jan;
    • Kaski, Juan P.;
    • Tuo, Giulia;
    • Marasini, Maurizio;
    • Cairello, Francesca;
    • Madrigali, Andrea;
    • Pacileo, Giuseppe;
    • Russo, Maria G.
    Publication type:
    Article

  • Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002334
    By:
    • Girirajan, Santhosh;
    • Brkanac, Zoran;
    • Coe, Bradley P.;
    • Baker, Carl;
    • Vives, Laura;
    • Vu, Tiffany H.;
    • Shafer, Neil;
    • Bernier, Raphael;
    • Ferrero, Giovanni B.;
    • Silengo, Margherita;
    • Warren, Stephen T.;
    • Moreno, Carlos S.;
    • Fichera, Marco;
    • Romano, Corrado;
    • Raskind, Wendy H.;
    • Eichler, Evan E.
    Publication type:
    Article

  • Front Cover, Volume 40, Issue 6.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article

  • NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article

  • Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.

    Published in:
    Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
    By:
    • Sarkozy, Anna;
    • Carta, Claudio;
    • Moretti, Sonia;
    • Zampino, Giuseppe;
    • Digilio, Maria C.;
    • Pantaleoni, Francesca;
    • Scioletti, Anna Paola;
    • Esposito, Giorgia;
    • Cordeddu, Viviana;
    • Lepri, Francesca;
    • Petrangeli, Valentina;
    • Dentici, Maria L.;
    • Mancini, Grazia M.S.;
    • Selicorni, Angelo;
    • Rossi, Cesare;
    • Mazzanti, Laura;
    • Marino, Bruno;
    • Ferrero, Giovanni B.;
    • Silengo, Margherita Cirillo;
    • Memo, Luigi
    Publication type:
    Article

  • Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism.

    Published in:
    Minerva Psychiatry, 2021, v. 62, n. 2, p. 107, doi. 10.23736/S2724-6612.20.02142-1
    By:
    • KELLER, Roberto;
    • CARLI, Diana;
    • BRIGHENTI, Stefania;
    • SALERNO, Luana;
    • BIAMINO, Elisa;
    • RAINÒ, Elena;
    • VITIELLO, Benedetto;
    • FERRERO, Giovanni B.
    Publication type:
    Article

  • 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

  • Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.

    Published in:
    Human Mutation, 1994, v. 4, n. 1, p. 76, doi. 10.1002/humu.1380040114
    By:
    • Yen, Pauline H.;
    • Ferrero, Giovanni B.;
    • Chinault, A. Craig;
    • Mohandas, Thuluvancheri;
    • Ballabio, Andrea
    Publication type:
    Article

  • A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 4, p. 547
    By:
    • Slegtenhorst, Marjon A.van;
    • T.Bassl, Maria;
    • Borsanil, Gluseppe;
    • Wapenaar, Martin C.;
    • Ferrero, Giovanni B.;
    • de Concillls, Lisa;
    • Rugarli, Elena I.;
    • Grillo, Alessandra;
    • Franco, Brunella;
    • Y.Zoghbl, Huda;
    • Ballabio, Andrea
    Publication type:
    Article

  • The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

    Published in:
    Human Molecular Genetics, 1993, v. 2, n. 7, p. 947
    By:
    • Wapenaar, Martin C.;
    • Bassl, Maria T.;
    • Schaefer, Laura;
    • Grillo, Alessandra;
    • Ferrero, Giovanni B.;
    • Chlnault, A.Craig;
    • Ballabio, Andrea;
    • Zoghbi, Huda Y.
    Publication type:
    Article