Found: 8

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  • Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

    Published in:
    Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0394-9
    By:
    • Dalmasso, Maria Carolina;
    • Brusco, Luis Ignacio;
    • Olivar, Natividad;
    • Muchnik, Carolina;
    • Hanses, Claudia;
    • Milz, Esther;
    • Becker, Julian;
    • Heilmann-Heimbach, Stefanie;
    • Hoffmann, Per;
    • Prestia, Federico A.;
    • Galeano, Pablo;
    • Avalos, Mariana Soledad Sanchez;
    • Martinez, Luis Eduardo;
    • Carulla, Mariana Estela;
    • Azurmendi, Pablo Javier;
    • Liberczuk, Cynthia;
    • Fezza, Cristina;
    • Sampaño, Marcelo;
    • Fierens, Maria;
    • Jemar, Guillermo
    Publication type:
    Article

  • A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366
    By:
    • Wieczorek, Dagmar;
    • Bögershausen, Nina;
    • Beleggia, Filippo;
    • Steiner-Haldenstätt, Sabine;
    • Pohl, Esther;
    • Li, Yun;
    • Milz, Esther;
    • Martin, Marcel;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Alanay, Yasemin;
    • Kayserili, Hülya;
    • Klein-Hitpass, Ludger;
    • Böhringer, Stefan;
    • Wollstein, Andreas;
    • Albrecht, Beate;
    • Boduroglu, Koray;
    • Caliebe, Almuth;
    • Chrzanowska, Krystyna;
    • Cogulu, Ozgur
    Publication type:
    Article

  • A large duplication involving the IHH locus mimics acrocallosal syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
    By:
    • Yuksel-Apak, Memnune;
    • Bögershausen, Nina;
    • Pawlik, Barbara;
    • Li, Yun;
    • Apak, Selcuk;
    • Uyguner, Oya;
    • Milz, Esther;
    • Nürnberg, Gudrun;
    • Karaman, Birsen;
    • Gülgören, Ayan;
    • Grzeschik, Karl-Heinz;
    • Nürnberg, Peter;
    • Kayserili, Hülya;
    • Wollnik, Bernd
    Publication type:
    Article

  • P1‐159: RARE VARIANTS IN PLCG2, ABI3, AND TREM2 GENES ARE ASSOCIATED WITH ALZHEIMER'S DISEASE IN AN ARGENTINIAN SAMPLE: IS IT A EUROPEAN HERITAGE?

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P337, doi. 10.1016/j.jalz.2018.06.163
    By:
    • Dalmasso, Maria Carolina;
    • Brusco, Ignacio;
    • Olivar, Natividad;
    • Muchnik, Carolina;
    • Hanses, Claudia;
    • Milz, Esther;
    • Becker, Julian;
    • Prestia, Federico A.;
    • Galeano, Pablo;
    • Carulla, Mariana E.;
    • Azurmendi, Pablo J.;
    • Liberczuk, Cynthia;
    • Fezza, Cristina;
    • Sampaño, Marcelo;
    • Fierens, Maria;
    • Jemar, Guillermo;
    • Sanchez-Avalos, Mariana S.;
    • Martinez, Luis E.;
    • Solis, Patricia;
    • Medel, Nancy
    Publication type:
    Article

  • The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

    Published in:
    Human Genetics, 2014, v. 133, n. 1, p. 29, doi. 10.1007/s00439-013-1351-y
    By:
    • Schreml, Julia;
    • Durmaz, Burak;
    • Cogulu, Ozgur;
    • Keupp, Katharina;
    • Beleggia, Filippo;
    • Pohl, Esther;
    • Milz, Esther;
    • Coker, Mahmut;
    • Ucar, Sema;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Kuhn, Joachim;
    • Ozkinay, Ferda
    Publication type:
    Article

  • A mutation screen in patients with Kabuki syndrome.

    Published in:
    Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y
    By:
    • Li, Yun;
    • Bögershausen, Nina;
    • Alanay, Yasemin;
    • Simsek Kiper, Pelin;
    • Plume, Nadine;
    • Keupp, Katharina;
    • Pohl, Esther;
    • Pawlik, Barbara;
    • Rachwalski, Martin;
    • Milz, Esther;
    • Thoenes, Michaela;
    • Albrecht, Beate;
    • Prott, Eva-Christina;
    • Lehmkühler, Margret;
    • Demuth, Stephanie;
    • Utine, Gülen;
    • Boduroglu, Koray;
    • Frankenbusch, Katja;
    • Borck, Guntram;
    • Gillessen-Kaesbach, Gabriele
    Publication type:
    Article

  • RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102
    By:
    • Bögershausen, Nina;
    • I.-Chun Tsai;
    • Pohl, Esther;
    • SimsekKiper, Pelin Özlem;
    • Beleggia, Filippo;
    • Percin, E. Ferda;
    • Keupp, Katharina;
    • Matchan, Angela;
    • Milz, Esther;
    • Alanay, Yasemin;
    • Kayserili, Hülya;
    • Yicheng Liu;
    • Banka, Siddharth;
    • Kranz, Andrea;
    • Zenker, Martin;
    • Wieczorek, Dagmar;
    • Elcioglu, Nursel;
    • Prontera, Paolo;
    • Lyonnet, Stanislas;
    • Meitinger, Thomas
    Publication type:
    Article

  • Herpes simplex virus alters Alzheimer's disease biomarkers ‐ A hypothesis paper.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 5, p. 2117, doi. 10.1002/alz.12834
    By:
    • Goldhardt, Oliver;
    • Freiberger, Robert;
    • Dreyer, Tobias;
    • Willner, Luisa;
    • Yakushev, Igor;
    • Ortner, Marion;
    • Förstl, Hans;
    • Diehl‐Schmid, Janine;
    • Milz, Esther;
    • Priller, Josef;
    • Ramirez, Alfredo;
    • Magdolen, Viktor;
    • Thaler, Markus;
    • Grimmer, Timo
    Publication type:
    Article