Works matching AU Tserpelis, Demis

Results: 9
    1

    The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
    By:
    • Paulussen, Aimée D. C.;
    • Schrander-Stumpel, Constance T.;
    • Tserpelis, Demis C. J.;
    • Spee, Matteus K. M.;
    • Stegmann, Alexander P. A.;
    • Mancini, Grazia M.;
    • Brooks, Alice S.;
    • Collée, Margriet;
    • Maat-Kievit, Anneke;
    • Simon, Marleen E. H.;
    • van Bever, Yolande;
    • Stolte-Dijkstra, Irene;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Herkert, Johanna C.;
    • van Essen, Anthonie J.;
    • Lichtenbelt, Klaske D.;
    • van Haeringen, Arie;
    • Kwee, Mei L.;
    • Lachmeijer, Augusta M. A.;
    • Tan-Sindhunata, Gita M. B.
    Publication type:
    Article
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    5

    Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

    Published in:
    International Journal of Cancer, 2019, v. 145, n. 2, p. 401, doi. 10.1002/ijc.32114
    By:
    • Brandão, Rita D.;
    • Mensaert, Klaas;
    • López‐Perolio, Irene;
    • Tserpelis, Demis;
    • Xenakis, Markos;
    • Lattimore, Vanessa;
    • Walker, Logan C.;
    • Kvist, Anders;
    • Vega, Ana;
    • Gutiérrez‐Enríquez, Sara;
    • Díez, Orland;
    • Hoya, Miguel;
    • Spurdle, Amanda B.;
    • De Meyer, Tim;
    • Blok, Marinus J.
    Publication type:
    Article
    6

    Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.

    Published in:
    Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658
    By:
    • Whiley, Phillip J.;
    • de la Hoya, Miguel;
    • Thomassen, Mads;
    • Becker, Alexandra;
    • Brandão, Rita;
    • Pedersen, Inge Sokilde;
    • Montagna, Marco;
    • Menéndez, Mireia;
    • Quiles, Francisco;
    • Gutiérrez-Enríquez, Sara;
    • De Leeneer, Kim;
    • Tenés, Anna;
    • Montalban, Gemma;
    • Tserpelis, Demis;
    • Toshio Yoshimatsu;
    • Tirapo, Carole;
    • Raponi, Michela;
    • Caldes, Trinidad;
    • Blanco, Ana;
    • Santamariña, Marta
    Publication type:
    Article
    7

    Aging promotes accumulation of senescent and multiciliated cells in human endometrial epithelium.

    Published in:
    Human Reproduction Open, 2024, v. 2024, n. 3, p. 1, doi. 10.1093/hropen/hoae048
    By:
    • Loid, Marina;
    • Obukhova, Darina;
    • Kask, Keiu;
    • Apostolov, Apostol;
    • Meltsov, Alvin;
    • Tserpelis, Demis;
    • van den Wijngaard, Arthur;
    • Altmäe, Signe;
    • Yahubyan, Galina;
    • Baev, Vesselin;
    • Saare, Merli;
    • Peters, Maire;
    • Minajeva, Ave;
    • Adler, Priit;
    • Acharya, Ganesh;
    • Krjutškov, Kaarel;
    • Nikolova, Maria;
    • Vilella, Felipe;
    • Simon, Carlos;
    • Esteki, Masoud Zamani
    Publication type:
    Article
    8

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416
    By:
    • Paulussen, Aimée D. C.;
    • Stegmann, Alexander P. A.;
    • Blok, Marinus J.;
    • Tserpelis, Demis;
    • Posma-Velter, Crool;
    • Detisch, Yvonne;
    • Smeets, Eric E. J. G. L.;
    • Wagemans, Annemieke;
    • Schrander, Jaap J. P.;
    • van den Boogaard, Marie-José H.;
    • van der Smagt, Jasper;
    • van Haeringen, Arie;
    • Stolte-Dijkstra, Irene;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Mancini, Grazia M.;
    • Wessels, Marja W.;
    • Hennekam, Raoul C. M.;
    • Vreeburg, Maaike;
    • Geraedts, Joep;
    • de Ravel, Thomy
    Publication type:
    Article
    9

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666
    By:
    • Colombo, Mara;
    • Blok, Marinus J.;
    • Whiley, Phillip;
    • Santamariña, Marta;
    • Gutiérrez-Enríquez, Sara;
    • Romero, Atocha;
    • Garre, Pilar;
    • Becker, Alexandra;
    • Smith, Lindsay Denise;
    • De Vecchi, Giovanna;
    • Brandão, Rita D.;
    • Tserpelis, Demis;
    • Brown, Melissa;
    • Blanco, Ana;
    • Bonache, Sandra;
    • Menéndez, Mireia;
    • Houdayer, Claude;
    • Foglia, Claudia;
    • Fackenthal, James D.;
    • Baralle, Diana
    Publication type:
    Article