Works by Laccone, Franco


Results: 76
    1

    A new COL3A1 mutation in Ehlers- Danlos syndrome type IV.

    Published in:
    Experimental Dermatology, 2013, v. 22, n. 3, p. 231, doi. 10.1111/exd.12105
    By:
    • Eder, Johanna;
    • Laccone, Franco;
    • Rohrbach, Marianne;
    • Giunta, Cecilia;
    • Aumayr, Klaus;
    • Reichel, Christofer;
    • Trautinger, Franz
    Publication type:
    Article
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    Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03106-z
    By:
    • Pfeifer, Mateja;
    • Rehder, Helga;
    • Gerykova Bujalkova, Maria;
    • Bartsch, Christine;
    • Fritz, Barbara;
    • Knopp, Cordula;
    • Beckers, Björn;
    • Dohle, Frank;
    • Meyer-Wittkopf, Matthias;
    • Axt-Fliedner, Roland;
    • Beribisky, Alexander V.;
    • Hofer, Manuel;
    • Laccone, Franco;
    • Schoner, Katharina
    Publication type:
    Article
    9

    Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype.

    Published in:
    Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184
    By:
    • Bauer, Ingrid;
    • Gencik, Martin;
    • Laccone, Franco;
    • Peters, Hartmut;
    • Weber, Bernhard H. F.;
    • Feder, Elke Holinski;
    • Weirich, Helga;
    • Morris-Rosendahl, Deborah J.;
    • Rolfs, Arndt;
    • Gencikova, Alexandra;
    • Bauer, Peter;
    • Wenning, Gregor K.;
    • Epplen, Jörg T.;
    • Holmes, Susan E.;
    • Margolis, Russell L.;
    • Ross, Christopher A.;
    • Riess, Olaf
    Publication type:
    Article
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    Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease.

    Published in:
    Human Genetics, 2006, v. 120, n. 2, p. 285, doi. 10.1007/s00439-006-0221-2
    By:
    • Metzger, Silke;
    • Bauer, Peter;
    • Tomiuk, Jürgen;
    • Laccone, Franco;
    • DiDonato, Stefano;
    • Gellera, Cinzia;
    • Mariotti, Caterina;
    • Lange, Herwig;
    • Weirich-Schwaiger, Helga;
    • Wenning, Gregor;
    • Seppi, Klaus;
    • Melegh, Bela;
    • Havasi, Viktoria;
    • Balikó, Laszlo;
    • Wieczorek, Stefan;
    • Zaremba, Jacek;
    • Hoffman-Zacharska, Dorota;
    • Sulek, Anna;
    • Basak, A.;
    • Soydan, Esra
    Publication type:
    Article
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    A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

    Published in:
    Human Genetics, 2023, v. 142, n. 8, p. 1077, doi. 10.1007/s00439-022-02506-0
    By:
    • Frohne, Alexandra;
    • Koenighofer, Martin;
    • Cetin, Hakan;
    • Nieratschker, Michael;
    • Liu, David T.;
    • Laccone, Franco;
    • Neesen, Juergen;
    • Nemec, Stefan F.;
    • Schwarz-Nemec, Ursula;
    • Schoefer, Christian;
    • Avraham, Karen B.;
    • Frei, Klemens;
    • Grabmeier-Pfistershammer, Katharina;
    • Kratzer, Bernhard;
    • Schmetterer, Klaus;
    • Pickl, Winfried F.;
    • Parzefall, Thomas
    Publication type:
    Article
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    Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

    Published in:
    Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
    By:
    • Tallgren, Antti;
    • Kager, Leo;
    • O'Grady, Gina;
    • Tuominen, Hannu;
    • Körkkö, Jarmo;
    • Kuismin, Outi;
    • Feucht, Martha;
    • Wilson, Callum;
    • Behunova, Jana;
    • England, Eleina;
    • Kurki, Mitja I.;
    • Palotie, Aarno;
    • Hallman, Mikko;
    • Kaarteenaho, Riitta;
    • Laccone, Franco;
    • Boztug, Kaan;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
    21

    The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
    By:
    • Krenn, Martin;
    • Sener, Merve;
    • Rath, Jakob;
    • Zulehner, Gudrun;
    • Keritam, Omar;
    • Wagner, Matias;
    • Laccone, Franco;
    • Iglseder, Stephan;
    • Marte, Sonja;
    • Baumgartner, Manuela;
    • Eisenkölbl, Astrid;
    • Liechtenstein, Christian;
    • Rudnik, Sabine;
    • Quasthoff, Stefan;
    • Grinzinger, Susanne;
    • Spenger, Johannes;
    • Wortmann, Saskia B.;
    • Löscher, Wolfgang N.;
    • Zimprich, Fritz;
    • Kellersmann, Anna
    Publication type:
    Article
    22

    Schmerzhafte Knoten.

    Published in:
    Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 6, p. 627, doi. 10.1111/ddg.12923_g
    By:
    • Valero, Teresa;
    • Brandau, Oliver;
    • Laccone, Franco;
    • Radakovic, Sonja
    Publication type:
    Article
    23

    Painful nodules.

    Published in:
    Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 6, p. 627, doi. 10.1111/ddg.12923
    By:
    • Valero, Teresa;
    • Brandau, Oliver;
    • Laccone, Franco;
    • Radakovic, Sonja
    Publication type:
    Article
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    Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.

    Published in:
    International Archives of Allergy & Immunology, 2023, v. 184, n. 9, p. 914, doi. 10.1159/000530844
    By:
    • Kratzer, Bernhard;
    • Grabmeier-Pfistershammer, Katharina;
    • Trapin, Doris;
    • Körmöczi, Ulrike;
    • Rottal, Arno;
    • Feichter, Melanie;
    • Waidhofer-Söllner, Petra;
    • Smogavec, Mateja;
    • Laccone, Franco;
    • Hauser, Michael;
    • Winkler, Stefan;
    • Pickl, Winfried F.;
    • Lechner, Arno M
    Publication type:
    Article
    40

    Somatic Recombination Between an Ancient and a Recent NOTCH2 Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic Leukemia.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 23, p. 12581, doi. 10.3390/ijms252312581
    By:
    • Hubmann, Rainer;
    • Hilgarth, Martin;
    • Löwenstern, Tamara;
    • Lienhard, Andrea;
    • Sima, Filip;
    • Reisinger, Manuel;
    • Hobel-Kleisch, Claudia;
    • Porpaczy, Edit;
    • Haferlach, Torsten;
    • Hoermann, Gregor;
    • Laccone, Franco;
    • Jungbauer, Christof;
    • Valent, Peter;
    • Staber, Philipp B.;
    • Shehata, Medhat;
    • Jäger, Ulrich
    Publication type:
    Article
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    Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1261, doi. 10.1007/s10815-024-03108-7
    By:
    • Madritsch, Silvia;
    • Arnold, Vivienne;
    • Haider, Martha;
    • Bosenge, Julia;
    • Pfeifer, Mateja;
    • Weil, Beatrix;
    • Zechmeister, Manuela;
    • Hengstschläger, Markus;
    • Neesen, Jürgen;
    • Laccone, Franco
    Publication type:
    Article
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