Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Eva Rossier"'
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Autor:
Eva Christina Prott, Angelo Selicorni, Cristina Gervasini, Axel Bohring, Alma Kuechler, Mark B. Mallozzi, Emanuele Agolini, Alisha Wilkens, Heiko Reutter, Barbara Mikat, Giuseppe Zampino, Yorck Hellenbroich, Eva Rossier, Denise Horn, Carolina Baquero-Montoya, Roberta Onesimo, Yiran Guo, Hakon Hakonarson, Chiara Leoni, Elaine H. Zackai, Yun Li, Dagmar Wieczorek, Frank J. Kaiser, Milena Mariani, Andreas Busche, Birgit Zirn, Andreas Dalski, Sally Ann Lynch, Livija Medne, Nuria C. Bramswig, Beate Albrecht, Donatella Milani, Xilma R. Ortiz-Gonzalez, Ilaria Parenti, Matthew A Deardorff, A. Micheil Innes, Britta Hanker, Irina Huening, Gabriele Gillessen-Kaesbach, Peter Wieacker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902404dcbdaa40403724acccee7e7a22
https://doi.org/10.1111/cge.13977/v2/response1
https://doi.org/10.1111/cge.13977/v2/response1
Autor:
Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li
Publikováno v:
Clinical geneticsREFERENCES. 100(2)
Mutations affecting the transcriptional regulator ANKRD11 are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developme
Autor:
Harald Weng, Andreas Gerhardinger, Eva Rossier, Alina Henn, Günther Rettenberger, Simon Novak, Birgit Zirn
Publikováno v:
Clinical Dysmorphology. 27:27-30
Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second f
Autor:
Eva Rossier, Dagmar Wieczorek, Jasmin Beygo, Sabine Purmann, Bernhard Horsthemke, Jonas Eckle, Alma Küchler, Beate Albrecht, Karin Buiting, Hermann-Josef Lüdecke, Maren Wenzel, Thomas Eggermann, Ulrike Kordaß, Alexandra Gellhaus, Gabriele Gillessen-Kaesbach, Deniz Kanber, Ilse M. van der Werf, Johannes van de Nes
Publikováno v:
European journal of human genetics
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially me
Autor:
Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam
Publikováno v:
PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Autor:
Julia A. Horsfield, Matthew A. Deardorff, Laura Daniela Michelis, Eva Rossier, Maren Mönnich, Robert G. Ramsay, María Concepción Gil-Rodríguez, Sara Halbach, Diana Braunholz, Dinah Clark, Emma Dickinson, Yuqian Yan, Abhinav Rampuria, Stephanie Tennstedt, Michael J. McKay, Stephanie Spranger, Sally Ann Lynch, Lionel Van Maldergem, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Ian D. Krantz, Huiling Xu, Melanie Albrecht, Jonathan J. Wilde, Hakon Hakonarson, Frank J. Kaiser, Weizhen Xu
Publikováno v:
The American Journal of Human Genetics. 90(6):1014-1027
The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin and its regulatory proteins have been implicated in several human developmental disorders,
Autor:
Kerstin Kutsche, Dagmar Wieczorek, M Mar García González, Silvia Azzarello-Burri, Christiane Spaich, May-Britt Harmsen, Anita Rauch, Martin Zenker, Dietmar Müller, Peter Meinecke, Eva Seemanova, Eva Rossier, Bernhard Steiner, Gabriele Gillessen-Kaesbach
Publikováno v:
European Journal of Human Genetics. 17:1207-1215
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutation
Autor:
Litu Zhang, Zeynep Tümer, Niels Tommerup, Eske Bendsen, Nickolas Papadopoulos, Rikke S. Møller, Gotthold Barbi, Reinhard Ullmann, Lars Allan Larsen, Eva Rossier, Jian He, Kjeld Møllgård
Publikováno v:
European Journal of Human Genetics. 17:1010-1018
The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1–RUNX1T1 fusion
Publikováno v:
Genomic Medicine. 1:65-73
We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangeme