Works matching IS 17501172 AND DT 2013 AND VI 8 AND IP 1

Results: 349
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    Pathways systematically associated to Hirschsprung's disease.

    Published in:
    2013
    By:
    • Fernández, Raquel M.;
    • Bleda, Marta;
    • Luzón-Toro, Berta;
    • García-Alonso, Luz;
    • Arnold, Stacey;
    • Sribudiani, Yunia;
    • Besmond, Claude;
    • Lantieri, Francesca;
    • Doan, Betty;
    • Ceccherini, Isabella;
    • Lyonnet, Stanislas;
    • Hofstra, Robert M. W.;
    • Chakravarti, Aravinda;
    • Antiňolo, Guillermo;
    • Dopazo, Joaquín;
    • Borrego, Salud;
    • Hofstra, Robert Mw;
    • Antiñolo, Guillermo
    Publication type:
    journal article
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    A prospective observational study of associated anomalies in Hirschsprung's disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-184
    By:
    • Prato, Alessio Pini;
    • Rossi, Valentina;
    • Mosconi, Manuela;
    • Holm, Catarina;
    • Lantieri, Francesca;
    • Griseri, Paola;
    • Ceccherini, Isabella;
    • Mavilio, Domenico;
    • Jasonni, Vincenzo;
    • Tuo, Giulia;
    • Derchi, Maria;
    • Marasini, Maurizio;
    • Magnano, Gianmichele;
    • Granata, Claudio;
    • Ghiggeri, Gianmarco;
    • Priolo, Enrico;
    • Sposetti, Lorenza;
    • Porcu, Adelina;
    • Buffa, Piero;
    • Mattioli, Girolamo
    Publication type:
    Article
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    Phenotypical variation within 22 families with Pompe disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-182
    By:
    • Wens, Stephan C. A.;
    • van Gelder, Carin M.;
    • Kruijshaar, Michelle E.;
    • de Vries, Juna M.;
    • van der Beek, Nadine A. M. E.;
    • Reuser, Arnold J. J.;
    • van Doorn, Pieter A.;
    • van der Ploeg, Ans T.;
    • Brusse, Esther
    Publication type:
    Article
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    The neurology of rhizomelic chondrodysplasia punctata.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-174
    By:
    • Bams-Mengerink, Annemieke M.;
    • Koelman, Johannes H. T. M.;
    • Waterham, Hans;
    • Barth, Peter G.;
    • Poll-The, Bwee Tien
    Publication type:
    Article
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    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
    By:
    • Mignot, Cyril;
    • Apartis, Emmanuelle;
    • Durr, Alexandra;
    • Lourenço, Charles Marques;
    • Charles, Perrine;
    • Devos, David;
    • Moreau, Caroline;
    • Lonlay, Pascale de;
    • Drouot, Nathalie;
    • Burglen, Lydie;
    • Kempf, Nadine;
    • Nourisson, Elsa;
    • Chantot-Bastaraud, Sandra;
    • Lebre, Anne-Sophie;
    • Rio, Marlène;
    • Chaix, Yves;
    • Bieth, Eric;
    • Roze, Emmanuel;
    • Bonnet, Isabelle;
    • Canaple, Sandrine
    Publication type:
    Article
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    Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
    By:
    • Ashizawa, Tetsuo;
    • Figueroa, Karla P.;
    • Perlman, Susan L.;
    • Gomez, Christopher M.;
    • Wilmot, George R.;
    • Schmahmann, Jeremy D.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa A.;
    • Paulson, Henry L.;
    • Shakkottai, Vikram G.;
    • Bushara, Khalaf O.;
    • Kuo, Sheng-Han;
    • Geschwind, Michael D.;
    • Xia, Guangbin;
    • Mazzoni, Pietro;
    • Krischer, Jeffrey P.;
    • Cuthbertson, David;
    • Holbert, Amy Roberts;
    • Ferguson, John H.;
    • Pulst, Stefan M.
    Publication type:
    Article
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    GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170
    By:
    • Morena-Barrio, Maria E de la;
    • Hernández-Caselles, Trinidad;
    • Corral, Javier;
    • García-López, Roberto;
    • Martínez-Martínez, Irene;
    • Pérez-Dueñas, Belen;
    • Altisent, Carmen;
    • Sevivas, Teresa;
    • Kristensen, Soren R.;
    • Guillén-Navarro, Encarna;
    • Miñano, Antonia;
    • Vicente, Vicente;
    • Jaeken, Jaak;
    • Lozano, Maria L.
    Publication type:
    Article
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    Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
    By:
    • Yildiz, Yildiz;
    • Hoffmann, Per;
    • Dahl, Stefan vom;
    • Breiden, Bernadette;
    • Sandhoff, Roger;
    • Niederau, Claus;
    • Horwitz, Mia;
    • Karlsson, Stefan;
    • Filocamo, Mirella;
    • Elstein, Deborah;
    • Beck, Michael;
    • Sandhoff, Konrad;
    • Mengel, Eugen;
    • Gonzalez, Maria C.;
    • Nöthen, Markus M.;
    • Sidransky, Ellen;
    • Zimran, Ari;
    • Mattheisen, Manuel
    Publication type:
    Article
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    Fahr’s syndrome: literature review of current evidence.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-156
    By:
    • Saleem, Shafaq;
    • Aslam, Hafiz Muhammad;
    • Anwar, Maheen;
    • Anwar, Shahzad;
    • Saleem, Maria;
    • Saleem, Anum;
    • Rehmani, Muhammad Asim Khan
    Publication type:
    Article
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    Associated factors and comorbidities in patients with pyoderma gangrenosum in Germany: a retrospective multicentric analysis in 259 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-136
    By:
    • Ghazal, Philipp Al;
    • Herberger, Katharina;
    • Schaller, Jörg;
    • Strölin, Anke;
    • Hoff, Norman-Philipp;
    • Goerge, Tobias;
    • Roth, Hannelore;
    • Rabe, Eberhard;
    • Karrer, Sigrid;
    • Renner, Regina;
    • Maschke, Jan;
    • Horn, Thomas;
    • Hepp, Julia;
    • Eming, Sabine;
    • Wollina, Uwe;
    • Zutt, Markus;
    • Sick, Isabell;
    • Splieth, Benno;
    • Dill, Dorothea;
    • Klode, Joachim
    Publication type:
    Article
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    Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-155
    By:
    • Langereis, Eveline J.;
    • Borgo, Andrea;
    • Crushell, Ellen;
    • Harmatz, Paul R.;
    • van Hasselt, Peter M.;
    • Jones, Simon A.;
    • Kelly, Paula M.;
    • Lampe, Christina;
    • van der Lee, Johanna H.;
    • Odent, Thierry;
    • Sakkers, Ralph;
    • Scarpa, Maurizio;
    • Schafroth, Matthias U.;
    • Struijs, Peter A.;
    • Valayannopoulos, Vassili;
    • White, Klane K.;
    • Wijburg, Frits A.
    Publication type:
    Article
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    ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitro responses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11β-hydroxylase.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-142
    By:
    • Hofland, Johannes;
    • Hofland, Leo J.;
    • van Koetsveld, Peter M.;
    • Steenbergen, Jacobie;
    • de Herder, Wouter W.;
    • van Eijck, Casper H.;
    • de Krijger, Ronald R.;
    • van Nederveen, Francien H.;
    • van Aken, Maarten O.;
    • de Groot, Johannes W.;
    • Links, Thera P.;
    • de Jong, Frank H.;
    • Feelders, Richard A.
    Publication type:
    Article
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    Brachydactyly E: isolated or as a feature of a syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141
    By:
    • Pereda, Arrate;
    • Garin, Intza;
    • Garcia-Barcina, Maria;
    • Gener, Blanca;
    • Beristain, Elena;
    • Ibañez, Ane Miren;
    • de Nanclares, Guiomar Perez
    Publication type:
    Article
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    Experimental designs for small randomised clinical trials: an algorithm for choice.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-48
    By:
    • Cornu, Catherine;
    • Kassai, Behrouz;
    • Fisch, Roland;
    • Chiron, Catherine;
    • Alberti, Corinne;
    • Guerrini, Renzo;
    • Rosati, Anna;
    • Pons, Gerard;
    • Tiddens, Harm;
    • Chabaud, Sylvie;
    • Caudri, Daan;
    • Ballot, Clément;
    • Kurbatova, Polina;
    • Castellan, Anne-Charlotte;
    • Bajard, Agathe;
    • Nony, Patrice
    Publication type:
    Article
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