Found: 10

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  • A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

    Published in:
    Nature Genetics, 1999, v. 23, n. 4, p. 462, doi. 10.1038/70585
    By:
    • Verheijen, Frans W.;
    • Verbeek, Elly;
    • Aula, Nina;
    • Beerens, Cecile E.M.T.;
    • Havelaar, Adrie C.;
    • Joosse, Marijke;
    • Peltonen, Leena;
    • Aula, Pertti;
    • Galjaard, Hans;
    • van der Spek, Peter J.;
    • Mancini, Grazia M.S.
    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

  • Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

    Published in:
    Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
    By:
    • Seifert, Wenke;
    • Holder-Espinasse, Muriel;
    • Kühnisch, Jirko;
    • Kahrizi, Kimia;
    • Tzschach, Andreas;
    • Garshasbi, Masoud;
    • Najmabadi, Hossein;
    • Walter Kuss, Andreas;
    • Kress, Wolfram;
    • Laureys, Geneviève;
    • Loeys, Bart;
    • Brilstra, Eva;
    • Mancini, Grazia M.S.;
    • Dollfus, Hélène;
    • Dahan, Karin;
    • Apse, Kira;
    • Christian Hennies, Hans;
    • Horn, Denise
    Publication type:
    Article

  • Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

    Published in:
    Human Mutation, 2004, v. 23, n. 6, p. 576, doi. 10.1002/humu.20040
    By:
    • Cosma, Maria Pia;
    • Pepe, Stefano;
    • Parenti, Giancarlo;
    • Settembre, Carmine;
    • Annunziata, Ida;
    • Wade-Martins, Richard;
    • Domenico, Carmela Di;
    • Natale, Paola Di;
    • Mankad, Anuj;
    • Cox, Barbara;
    • Uziel, Graziella;
    • Mancini, Grazia M.S.;
    • Zammarchi, Enrico;
    • Donati, Maria Alice;
    • Kleijer, Wim J.;
    • Filocamo, Mirella;
    • Carrozzo, Romeo;
    • Carella, Massimo;
    • Ballabio, Andrea
    Publication type:
    Article

  • Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
    By:
    • Saunier, Chloé;
    • Støve, Svein Isungset;
    • Popp, Bernt;
    • Gérard, Bénédicte;
    • Blenski, Marina;
    • AhMew, Nicholas;
    • Bie, Charlotte;
    • Goldenberg, Paula;
    • Isidor, Bertrand;
    • Keren, Boris;
    • Leheup, Bruno;
    • Lampert, Laetitia;
    • Mignot, Cyril;
    • Tezcan, Kamer;
    • Mancini, Grazia M.S.;
    • Nava, Caroline;
    • Wasserstein, Melissa;
    • Bruel, Ange‐Line;
    • Thevenon, Julien;
    • Masurel, Alice
    Publication type:
    Article

  • A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
    By:
    • van Binsbergen, Ellen;
    • Ellis, Richard J.;
    • Abdelmalik, Nadia;
    • Jarvis, Joanna;
    • Randhawa, Kashmir;
    • Wyatt‐Ashmead, Josephine;
    • Canham, Natalie;
    • Thorpe‐Beeston, J Guy;
    • Mancini, Grazia M.S.;
    • Van Haelst, Mieke M.
    Publication type:
    Article

  • Novel no-stop FLNA mutation causes multi-organ involvement in males.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
    By:
    • Oegema, RENske;
    • Hulst, Jessie M.;
    • Theuns ‐ Valks, Sabine D.M.;
    • van UnEN, Leontine M.A.;
    • Schot, Rachel;
    • Mancini, Grazia M.S.;
    • Schipper, Marguerite E.I.;
    • de Wit, Marie C.Y.;
    • Sibbles, Barbara J.;
    • de Coo, IrENaeus F.M.;
    • Nanninga, Veerle;
    • Hofstra, Robert M.W.;
    • Halley, Dicky J.J.;
    • Brooks, Alice S.
    Publication type:
    Article

  • ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1376, doi. 10.1002/ajmg.a.35858
    By:
    • Meuwissen, Marije E.C.;
    • Lequin, Maarten H.;
    • Bindels‐de Heus, Karen;
    • Bruggenwirth, Hennie T.;
    • Knapen, Maarten F.C.M.;
    • Dalinghaus, Michiel;
    • de Coo, René;
    • van Bever, Yolande;
    • Winkelman, Beerend H.J.;
    • Mancini, Grazia M.S.
    Publication type:
    Article

  • Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2412, doi. 10.1002/ajmg.a.35517
    By:
    • Verhagen, Judith M.A.;
    • Diderich, Karin E.M.;
    • Oudesluijs, Grétel;
    • Mancini, Grazia M.S.;
    • Eggink, Alex J.;
    • Verkleij-Hagoort, Anna C.;
    • Groenenberg, Irene A.L.;
    • Willems, Patrick J.;
    • du Plessis, Frederik A.;
    • de Man, Stella A.;
    • Srebniak, Malgorzata I.;
    • van Opstal, Diane;
    • Hulsman, Lorette O.M.;
    • van Zutven, Laura J.C.M.;
    • Wessels, Marja W.
    Publication type:
    Article

  • Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1472, doi. 10.1002/ajmg.a.35365
    By:
    • Oegema, Renske;
    • Maat-Kievit, Anneke;
    • Lequin, Maarten H.;
    • Schot, Rachel;
    • Nanninga- van den Neste, Veerle M.H.;
    • Doornbos, Marianne E.;
    • de Wit, Marie C.Y.;
    • Halley, Dicky J.;
    • Mancini, Grazia M.S.
    Publication type:
    Article