Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Friederike Hennig"'
Autor:
Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K. A. Sreenivasan, Saranya Balachandran, Rose Behncke, Wing-Lee Chan, Alexandra Despang, Diane E. Dickel, Natja Haag, Rene Hägerling, Nils Hansmeier, Friederike Hennig, Cooper Marshall, Sudha Rajderkar, Alessa Ringel, Michael Robson, Lauren Saunders, Sanjay R. Srivatsan, Sascha Ulferts, Lars Wittler, Yiwen Zhu, Vera M. Kalscheuer, Daniel Ibrahim, Ingo Kurth, Uwe Kornak, David R. Beier, Axel Visel, Len A. Pennacchio, Cole Trapnell, Junyue Cao, Jay Shendure, Malte Spielmann
Mouse models are a critical tool for studying human diseases, particularly developmental disorders, as well as for advancing our general understanding of mammalian biology. However, it has long been suspected that conventional approaches for phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1993da5eddd9f3d354d14c3ba4d620a5
https://doi.org/10.1101/2022.08.03.500325
https://doi.org/10.1101/2022.08.03.500325
Autor:
Merryn V. E. Macville, David Hunt, Richard Webster, Suzanna G.M. Frints, Alberto Fernández-Jaén, Shelagh Joss, Andrew G. L. Douglas, Margje Sinnema, Lesley M McGregor, Vera M. Kalscheuer, Abhijit Dixit, Paulien A. Terhal, Arthur Lee, Sébastien Jacquemont, Omar A. Abdul-Rahman, Peter Wieacker, Koen L.I. van Gassen, Norbert Utzig, Marcus Lee, Vanessa Suckow, Gunnar Houge, Danita Velasco, Cheryl Longman, Holly H. Zimmerman, Elizabeth C. Engle, Bryce A. Mendelsohn, Salwan Al-Nasiry, Suzanne M. Koudijs, Saskia M. Maas, Diana Baralle, Hiromi Hirata, Kees E. P. van Roozendaal, Servi J. C. Stevens, Raoul C.M. Hennekam, Roberto Colombo, Ulrike Kordaß, Gyri Aasland Gradek, Friederike Hennig
Publikováno v:
Human Mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutat
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutat
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e587a6c9800551eea35560a0b6cc9e0a
https://hdl.handle.net/11268/10551
https://hdl.handle.net/11268/10551
Autor:
Pawel Stankiewicz, Claude Moraine, Astrid Grimme, Martine Raynaud, Jillian Nicholl, D. Hamlin, Mauricio R. Delgado, Linda Manwaring, H Van Bokhoven, Zhiyv Niu, Stefanie Weinert, J. Wynn, Jozef Gecz, Thomas J. Jentsch, Vanessa Suckow, Vera M. Kalscheuer, Hossein Najmabadi, Jackie Boyle, A. Sommer, Maureen Holvoet, J. M. Goehringer, Eric Haan, M. P. Pietryga, Luis Rohena, John Tolmie, Luciana Musante, Utz Fischer, Floor A. M. Duijkers, Wendy K. Chung, Friederike Hennig, Jan Maarten Cobben, Elizabeth E. Palmer, Tjitske Kleefstra, H Van Esch, B. M. Faux, Michael Field, Kimia Kahrizi, Deepa Sirsi, Melanie Leffler, T. Stuhlmann, Dorothy K. Grange, Jill A. Rosenfeld, Hans-Hilger Ropers, S. P. Lodh, Marie Shaw, Sailaja Golla, E. Bernardo, Shelagh Joss, Thomas D. Challman
Publikováno v:
Molecular Psychiatry, 23, 222-230
Molecular Psychiatry
Molecular psychiatry, 23(2), 222-230. Nature Publishing Group
Molecular psychiatry, Advance online publication
Molecular Psychiatry, 23, 2, pp. 222-230
Molecular Psychiatry
Molecular psychiatry, 23(2), 222-230. Nature Publishing Group
Molecular psychiatry, Advance online publication
Molecular Psychiatry, 23, 2, pp. 222-230
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40166409d3ed6e009b8a73d38d1c3530
https://doi.org/10.1038/mp.2016.135
https://doi.org/10.1038/mp.2016.135
Autor:
Denise Horn, Penelope E. Bonnen, Anna Floriane Hennig, Marten Jäger, Fernando Scaglia, Bernd Wollnik, Stefan Mundlos, Christian Netzer, Markus Schuelke, Uwe Kornak, Beatrix Fauler, Luitgard Graul-Neumann, Namrata Saha, Holger Thiele, Peter Krawitz, Lara Segebrecht, Jochen Hecht, Nadja Ehmke, Thorsten Mielke, Gökhan Yigit, Rainer Koenig, Carlos A. Bacino, Friederike Hennig, Nicolai Adolphs, Janine Altmüller, Pilar L. Magoulas, Lukasz Smorag, Vera M. Kalscheuer, Peter Nürnberg, Ulrike Krüger, Björn Fischer-Zirnsak, Esra Kılıç
Publikováno v:
The American Journal of Human Genetics
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat. Dipósit de la Recerca de Catalunya
instname
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f857b756c14a65ce9011a335db5cc733
https://hdl.handle.net/21.11116/0000-0000-CE88-F21.11116/0000-0000-CE8A-D
https://hdl.handle.net/21.11116/0000-0000-CE88-F21.11116/0000-0000-CE8A-D
Autor:
Armand Bottani, Katarina Brennerova, Nyitrayova O, Clesson Turner, Leda Lotspeich-Cole, Timea Kurdiova, Juraj Stanik, Melanie Bahlo, Jozef Ukropec, Daniela Steinberger, Utz Fischer, Shin Bs, Miriam Kolnikova, Martina Skopkova, Lyndal Henden, Friederike Hennig, Stefan A. Haas, Daniela Gasperikova, Thomas E. Dever, Iwar Klimes, Vera M. Kalscheuer, Ulrich Müller, Stanikova D, Esther Leshinsky-Silver, Guntram Borck, Kim
Publikováno v:
Human Mutation
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6508af1130e27368d690ca535e913fee
https://pubmed.ncbi.nlm.nih.gov/28301896
https://pubmed.ncbi.nlm.nih.gov/28301896
Autor:
Judith Armstrong, Stuart Cobb, Mercedes Pineda, Friederike Hennig, Mark E.S. Bailey, Jenny Downs, Helen Leonard, Tim A. Benke, Angus John Clarke, Vera M. Kalscheuer, Ralph D. Hector
Publikováno v:
NEUROLOGY-GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Neurology Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hector, R D, Kalscheuer, V M, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, T A, Armstrong, J, Pineda, M, Bailey, M E S & Cobb, S R 2017, ' CDKL5 variants: improving our understanding of a rare neurological disorder ', Neurology Genetics, vol. 3, no. 6 . https://doi.org/10.1212/NXG.0000000000000200
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Neurology Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hector, R D, Kalscheuer, V M, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, T A, Armstrong, J, Pineda, M, Bailey, M E S & Cobb, S R 2017, ' CDKL5 variants: improving our understanding of a rare neurological disorder ', Neurology Genetics, vol. 3, no. 6 . https://doi.org/10.1212/NXG.0000000000000200
Objective:To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene.Methods:We analyzed all kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac1d259bccaf2c1cb0284876ef3a3c4
https://doi.org/10.1212/nxg.0000000000000200
https://doi.org/10.1212/nxg.0000000000000200