Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Andreas Chiocchetti"'
Autor:
Stephanie Binder, Haribaskar Ramachandran, Denise Haslinger, Barbara Hildebrandt, Jochen Dobner, Thomas Haarmann-Stemmann, Andreas Chiocchetti, Andrea Rossi
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103395- (2024)
Heterozygous beta-actin (ACTB) indel and nonsense mutations are linked to developmental disorders. We generated two CRISPR/Cas9 human induced pluripotent stem cell (iPSC) lines, WTSIi018-B-19 and WTSIi018-B-20, carrying heterozygous and homozygous in
Externí odkaz:
https://doaj.org/article/641301e5755e44058761de3d25563abf
Autor:
Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Abstract Objective The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing
Externí odkaz:
https://doaj.org/article/4fb452d9a8a04925b6c0834c25eac553
Autor:
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects
Externí odkaz:
https://doaj.org/article/03767000fd224a4884ce09193bcfd6c7
Autor:
Sophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
OBJECTIVE: The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ab6a82573bccbe0b148f2e820a5a7b
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
Autor:
Sebastian, Bauer, Natascha, van Alphen, Albert, Becker, Andreas, Chiocchetti, Ralf, Deichmann, Thomas, Deller, Thomas, Freiman, Christine M, Freitag, Johannes, Gehrig, Anke M, Hermsen, Peter, Jedlicka, Christian, Kell, Karl Martin, Klein, Susanne, Knake, Dimitri M, Kullmann, Stefan, Liebner, Braxton A, Norwood, Diana, Omigie, Karlheinz, Plate, Andreas, Reif, Philipp S, Reif, Yvonne, Reiss, Jochen, Roeper, Michael W, Ronellenfitsch, Stephanie, Schorge, Gerhard, Schratt, Stephan W, Schwarzacher, Joachim P, Steinbach, Adam, Strzelczyk, Jochen, Triesch, Marlies, Wagner, Matthew C, Walker, Frederic, von Wegner, Felix, Rosenow
Publikováno v:
Epilepsybehavior : EB. 76
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epi
Autor:
Felix, Rosenow, Natascha, van Alphen, Albert, Becker, Andreas, Chiocchetti, Ralf, Deichmann, Thomas, Deller, Thomas, Freiman, Christine M, Freitag, Johannes, Gehrig, Anke M, Hermsen, Peter, Jedlicka, Christian, Kell, Karl Martin, Klein, Susanne, Knake, Dimitri M, Kullmann, Stefan, Liebner, Braxton A, Norwood, Diana, Omigie, Karlheinz, Plate, Andreas, Reif, Philipp S, Reif, Yvonne, Reiss, Jochen, Roeper, Michael W, Ronellenfitsch, Stephanie, Schorge, Gerhard, Schratt, Stephan W, Schwarzacher, Joachim P, Steinbach, Adam, Strzelczyk, Jochen, Triesch, Marlies, Wagner, Matthew C, Walker, Frederic, von Wegner, Sebastian, Bauer
Publikováno v:
Epilepsybehavior : EB. 76
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epi
Autor:
Evi Comploj, Christine Mian, Fiovo Marziani, Alessandra Spada, Andreas Chiocchetti, Michele Lodde, Salvatore Palermo, Michael Mian, Lukas Lusuardi, Armin Pycha
Publikováno v:
The Prostate. 66:966-970
BACKGROUND On the basis of a multicolor-FISH test we aimed at verifying whether there is any molecular biological background for the different behavior of Gleason Score 7 prostate cancer (PCa). PATIENTS AND METHODS Biopsies of 44 patients with histol
Autor:
Andreas, Chiocchetti, Sabine M, Klauck
Publikováno v:
Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie. 39(2)
Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with marked deficits in social communication, verbal development, and behaviour. The broad phenotype and the clinical heterogeneity point to a polygenic disorder - despite high h
Autor:
Martin, Laimer, Thomas, Kocher, Andreas, Chiocchetti, Andrea, Trost, Friedrich, Lottspeich, Klaus, Richter, Helmut, Hintner, Johann W, Bauer, Kamil, Onder
Publikováno v:
Experimental dermatology. 19(10)
Studies of skin aging are usually performed at the genomic level by investigating differentially regulated genes identified through subtractive hybridization or microarray analyses. In contrast, relatively few studies have investigated changes in pro
Autor:
Christine Mian, Michele Lodde, Evi Comploj, Salvatore Palermo, Lukas Lusuardi, Fiovo Marziani, Andreas Chiocchetti, Alessandra Spada, Michael Mian, Armin Pycha
Publikováno v:
Prostate; Jun2006, Vol. 66 Issue 9, p966-970, 5p