Works matching AU Klauck, Sabine

Results: 34
    1

    A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
    By:
    • Zanni, Ginevra;
    • Kalscheuer, Vera M.;
    • Friedrich, Andreas;
    • Barresi, Sabina;
    • Alfieri, Paolo;
    • Di Capua, Matteo;
    • Haas, Stefan A.;
    • Piccini, Giorgia;
    • Karl, Thomas;
    • Klauck, Sabine M.;
    • Bellacchio, Emanuele;
    • Emma, Francesco;
    • Cappa, Marco;
    • Bertini, Enrico;
    • Breitenbach‐Koller, Lore
    Publication type:
    Article
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    A 15q13.3 microdeletion segregating with autism.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
    By:
    • Pagnamenta, Alistair T.;
    • Wing, Kirsty;
    • Akha, Elham Sadighi;
    • Knight, Samantha J. L.;
    • Bölte, Sven;
    • Schmötzer, Gabriele;
    • Duketis, Eftichia;
    • Poustka, Fritz;
    • Klauck, Sabine M.;
    • Poustka, Annemarie;
    • Ragoussis, Jiannis;
    • Bailey, Anthony J.;
    • Monaco, Anthony P.
    Publication type:
    Article
    5

    Genetics of autism spectrum disorder.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 6, p. 714, doi. 10.1038/sj.ejhg.5201610
    By:
    • Klauck, Sabine M.
    Publication type:
    Article
    6

    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 2, p. 198, doi. 10.1038/sj.ejhg.5201315
    By:
    • Bonora, Elena;
    • Lamb, Janine A.;
    • Barnby, Gabrielle;
    • Sykes, Nuala;
    • Moberly, Thomas;
    • Beyer, Kim S.;
    • Klauck, Sabine M.;
    • Poustka, Firtz;
    • Bacchelli, Elena;
    • Blasi, Francesca;
    • Maestrini, Elena;
    • Battaglia, Agatino;
    • Haracopos, Demetrios;
    • Pedersen, Lennart;
    • Isager, Torben;
    • Eriksen, Gunna;
    • Viskum, Birgitte;
    • Sorensen, Ester-Ulsted;
    • Brondum-Nielsen, Karen;
    • Cotterill, Rodney
    Publication type:
    Article
    7

    Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities.

    Published in:
    Journal of Neural Transmission, 2018, v. 125, n. 2, p. 259, doi. 10.1007/s00702-017-1813-9
    By:
    • Chiocchetti, Andreas G.;
    • Yousaf, Afsheen;
    • Bour, Hannah S.;
    • Haslinger, Denise;
    • Waltes, Regina;
    • Duketis, Eftichia;
    • Jarczok, Tomas;
    • Sachse, Michael;
    • Biscaldi, Monica;
    • Degenhardt, Franziska;
    • Herms, Stefan;
    • Cichon, Sven;
    • Ackermann, Jörg;
    • Koch, Ina;
    • Klauck, Sabine M.;
    • Freitag, Christine M.
    Publication type:
    Article
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    Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00906-2
    By:
    • Yousaf, Afsheen;
    • Waltes, Regina;
    • Haslinger, Denise;
    • Klauck, Sabine M.;
    • Duketis, Eftichia;
    • Sachse, Michael;
    • Voran, Anette;
    • Biscaldi, Monica;
    • Schulte-Rüther, Martin;
    • Cichon, Sven;
    • Nöthen, Markus;
    • Ackermann, Jörg;
    • Koch, Ina;
    • Freitag, Christine M.;
    • Chiocchetti, Andreas G.
    Publication type:
    Article
    25

    The role of rare compound heterozygous events in autism spectrum disorder.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00866-7
    By:
    • Lin, Bochao Danae;
    • Colas, Fabrice;
    • Nijman, Isaac J.;
    • Medic, Jelena;
    • Brands, William;
    • Parr, Jeremy R.;
    • van Eijk, Kristel R.;
    • Klauck, Sabine M.;
    • Chiocchetti, Andreas G.;
    • Freitag, Christine M.;
    • Maestrini, Elena;
    • Bacchelli, Elena;
    • Coon, Hilary;
    • Vicente, Astrid;
    • Oliveira, Guiomar;
    • Pagnamenta, Alistair T.;
    • Gallagher, Louise;
    • Ennis, Sean;
    • Anney, Richard;
    • Bourgeron, Thomas
    Publication type:
    Article
    26

    The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.

    Published in:
    Molecular Autism, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2040-2392-5-34
    By:
    • Buxbaum, Joseph D.;
    • Bolshakova, Nadia;
    • Brownfeld, Jessica M.;
    • Anney, Richard J. L.;
    • Bender, Patrick;
    • Bernier, Raphael;
    • Cook, Edwin H.;
    • Coon, Hilary;
    • Cuccaro, Michael;
    • Freitag8, Christine M.;
    • Hallmayer, Joachim;
    • Geschwind, Daniel;
    • Klauck, Sabine M.;
    • Nurnberger, John I.;
    • Oliveira, Guiomar;
    • Pinto, Dalila;
    • Poustka, Fritz;
    • Scherer, Stephen W.;
    • Shih, Andy;
    • Sutcliffe, James S.
    Publication type:
    Article
    27

    Protein signatures of oxidative stress response in a patient specific cell line model for autism.

    Published in:
    Molecular Autism, 2014, v. 5, n. 1, p. 3, doi. 10.1186/2040-2392-5-10
    By:
    • Chiocchetti, Andreas G.;
    • Haslinger, Denise;
    • Boesch, Maximilian;
    • Karl, Thomas;
    • Wiemann, Stefan;
    • Freitag, Christine M.;
    • Poustka, Fritz;
    • Scheibe, Burghardt;
    • Bauer, Johann W.;
    • Hintner, Helmut;
    • Breitenbach, Michael;
    • Kellermann, Josef;
    • Lottspeich, Friedrich;
    • Klauck, Sabine M.;
    • Breitenbach-Koller, Lore
    Publication type:
    Article
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    Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

    Published in:
    Human Genetics, 2014, v. 133, n. 6, p. 781, doi. 10.1007/s00439-013-1416-y
    By:
    • Waltes, Regina;
    • Duketis, Eftichia;
    • Knapp, Michael;
    • Anney, Richard;
    • Huguet, Guillaume;
    • Schlitt, Sabine;
    • Jarczok, Tomasz;
    • Sachse, Michael;
    • Kämpfer, Laura;
    • Kleinböck, Tina;
    • Poustka, Fritz;
    • Bölte, Sven;
    • Schmötzer, Gabriele;
    • Voran, Anette;
    • Huy, Ellen;
    • Meyer, Jobst;
    • Bourgeron, Thomas;
    • Klauck, Sabine;
    • Freitag, Christine;
    • Chiocchetti, Andreas
    Publication type:
    Article
    31

    Frequent downregulation of DMBT1 and galectin-3 in epithelial skin cancer (This article is dedicated to Prof. Harald zur Hausen on the occasion of his retirement as head of the German Cancer Research Center (Deutsches Krebsforschungszentrum Heidelberg) with gratitude and appreciation for 20 years of leadership.)

    Published in:
    International Journal of Cancer, 2003, v. 105, n. 2, p. 149, doi. 10.1002/ijc.11072
    By:
    • Jan Mollenhauer;
    • Martin Deichmann;
    • Burkhard Helmke;
    • Hanna Müller;
    • Gaby Kollender;
    • Uffe Holmskov;
    • Toon Ligtenberg;
    • Inge Krebs;
    • Stefan Wiemann;
    • Ursula Bantel-Schaal;
    • Jens Madsen;
    • Floris Bikker;
    • Sabine M. Klauck;
    • Herwart F. Otto;
    • Gerd Moldenhauer;
    • Annemarie Poustka
    Publication type:
    Article
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    Impact of the operator's experience on value of high-resolution transabdominal ultrasound in the diagnosis of choledocholithiasis: A prospective comparison using endoscopic retrograde cholangiography as the gold standard.

    Published in:
    Scandinavian Journal of Gastroenterology, 2006, v. 41, n. 7, p. 838, doi. 10.1080/00365520500515370
    By:
    • Rickes, Steffen;
    • Treiber, Gerhard;
    • Mönkemüller, Klaus;
    • Peitz, Ulrich;
    • Csepregi, Antal;
    • Kahl, Stefan;
    • Vopel, Anika;
    • Wolle, Kathleen;
    • Ebert, Matthias P. A.;
    • Klauck, Sabine;
    • Malfertheiner, Peter
    Publication type:
    Article
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