Works in Orphanet Journal of Rare Diseases, 2019, Vol 14, Issue 1

Results: 301
    1

    European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.

    Published in:
    2019
    By:
    • van de Laar, Ingrid M. B. H.;
    • Arbustini, Eloisa;
    • Loeys, Bart;
    • Björck, Erik;
    • Murphy, Lise;
    • Groenink, Maarten;
    • Kempers, Marlies;
    • Timmermans, Janneke;
    • Roos-Hesselink, Jolien;
    • Benke, Kalman;
    • Pepe, Guglielmina;
    • Mulder, Barbara;
    • Szabolcs, Zoltan;
    • Teixidó-Turà, Gisela;
    • Robert, Leema;
    • Emmanuel, Yaso;
    • Evangelista, Arturo;
    • Pini, Alessandro;
    • von Kodolitsch, Yskert;
    • Jondeau, Guillaume
    Publication type:
    journal article
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    Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

    Published in:
    2019
    By:
    • van Vliet, Kimber;
    • van Ginkel, Willem G.;
    • Jahja, Rianne;
    • Daly, Anne;
    • MacDonald, Anita;
    • De Laet, Corinne;
    • Vara, Roshni;
    • Rahman, Yusof;
    • Cassiman, David;
    • Eyskens, Francois;
    • Timmer, Corrie;
    • Mumford, Nicky;
    • Bierau, Jörgen;
    • van Hasselt, Peter M.;
    • Gissen, Paul;
    • Goyens, Philippe J.;
    • McKiernan, Patrick J.;
    • Wilcox, Gisela;
    • Morris, Andrew A. M.;
    • Jameson, Elisabeth A.
    Publication type:
    journal article
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    Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.

    Published in:
    2019
    By:
    • Borie, Raphael;
    • Kannengiesser, Caroline;
    • Gouya, Laurent;
    • Dupin, Clairelyne;
    • Amselem, Serge;
    • Ba, Ibrahima;
    • Bunel, Vincent;
    • Bonniaud, Philippe;
    • Bouvry, Diane;
    • Cazes, Aurélie;
    • Clement, Annick;
    • Debray, Marie Pierre;
    • Dieude, Philippe;
    • Epaud, Ralph;
    • Fanen, Pascale;
    • Lainey, Elodie;
    • Legendre, Marie;
    • Plessier, Aurélie;
    • Sicre de Fontbrune, Flore;
    • Wemeau-Stervinou, Lidwine
    Publication type:
    journal article
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    EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

    Published in:
    2019
    By:
    • Martínez-Romero, María Carmen;
    • Ballesta-Martínez, María Juliana;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Serrano-Antón, Ana Teresa;
    • Barreda-Sánchez, María;
    • Rodriguez-Peña, Lidya;
    • Martínez-Menchon, María Teresa;
    • Frías-Iniesta, José;
    • Sánchez-Pedreño, Paloma;
    • Carbonell-Meseguer, Pablo;
    • Glover-López, Guillermo;
    • Guillén-Navarro, Encarna;
    • GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia);
    • Alcalá-García, Rebeca;
    • Barcia-Ramírez, Ana;
    • Cruz-Rojo, Jaime;
    • Gener-Querol, Blanca;
    • Hernández-Martín, Angela;
    • Lapunzina-Badía, Pablo
    Publication type:
    journal article
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    Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.

    Published in:
    2019
    By:
    • Javaid, Muhammad Kassim;
    • Boyce, Alison;
    • Appelman-Dijkstra, Natasha;
    • Ong, Juling;
    • Defabianis, Patrizia;
    • Offiah, Amaka;
    • Arundel, Paul;
    • Shaw, Nick;
    • Pos, Valter Dal;
    • Underhil, Ann;
    • Portero, Deanna;
    • Heral, Lisa;
    • Heegaard, Anne-Marie;
    • Masi, Laura;
    • Monsell, Fergal;
    • Stanton, Robert;
    • Dijkstra, Pieter Durk Sander;
    • Brandi, Maria Luisa;
    • Chapurlat, Roland;
    • Hamdy, Neveen Agnes Therese
    Publication type:
    corrected article
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    Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

    Published in:
    2019
    By:
    • Salas-Labadía, C.;
    • Gómez-Carmona, S.;
    • Cruz-Alcívar, R.;
    • Martínez-Anaya, D.;
    • Del Castillo-Ruiz, V.;
    • Durán-McKinster, C.;
    • Ulloa-Avilés, V.;
    • Yokoyama-Rebollar, E.;
    • Ruiz-Herrera, A.;
    • Navarrete-Meneses, P.;
    • Lieberman-Hernández, E.;
    • González-Del Angel, A.;
    • Cervantes-Barragán, D.;
    • Villarroel-Cortés, C.;
    • Reyes-León, A.;
    • Suárez-Pérez, D.;
    • Pedraza-Meléndez, A.;
    • González-Orsuna, A.;
    • Pérez-Vera, P.
    Publication type:
    journal article
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    C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.

    Published in:
    2019
    By:
    • Garam, Nóra;
    • Prohászka, Zoltán;
    • Szilágyi, Ágnes;
    • Aigner, Christof;
    • Schmidt, Alice;
    • Gaggl, Martina;
    • Sunder-Plassmann, Gere;
    • Bajcsi, Dóra;
    • Brunner, Jürgen;
    • Dumfarth, Alexandra;
    • Cejka, Daniel;
    • Flaschberger, Stefan;
    • Flögelova, Hana;
    • Haris, Ágnes;
    • Hartmann, Ágnes;
    • Heilos, Andreas;
    • Mueller, Thomas;
    • Rusai, Krisztina;
    • Arbeiter, Klaus;
    • Hofer, Johannes
    Publication type:
    journal article
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