Zobrazeno 1 - 10
of 1 026
pro vyhledávání: '"Alessandra Baumer"'
Autor:
Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern
Externí odkaz:
https://doaj.org/article/320147a5a90d41e0b319014749a3c315
Autor:
Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen
Publikováno v:
Life, Vol 13, Iss 9, p 1889 (2023)
Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors. Biochemical analyses can determine the type of
Externí odkaz:
https://doaj.org/article/1aa2f4fc9c104c9db505d8c902b9f107
Autor:
Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Publikováno v:
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)
Abstract Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (D
Externí odkaz:
https://doaj.org/article/fbf502b38d494e16bcea44feee0b6afb
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
Publikováno v:
PLoS ONE, Vol 4, Iss 8, p e6631 (2009)
BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Although no protein coding gene defects have been reported in SRS patients, approximately 50% of SRS patients carry epimutations (hypomethylation) at the
Externí odkaz:
https://doaj.org/article/dc99ab24ce7241cdbbdcaa061c0be427
Autor:
Frédéric Brioude, Edouard Cottereau, Marie-Pierre Moizard, Annick Toutain, Marie-Laure Vuillaume, Alessandra Baumer, Anita Rauch
Publikováno v:
European Journal of Human Genetics. 27:663-668
Name of the disease (synonyms) Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. Name of the analysed genes or dna/chromosome segments GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of
Autor:
Alessandra Baumer, Christina Gerth-Kahlert, Anita Rauch, Markus Zweier, Boris Tutschek, Pascal Joset, Katharina Steindl, Laura Gogoll
Publikováno v:
American Journal of Medical Genetics. Part a
Ogden syndrome is a rare lethal X‐linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N‐terminal acetyltransferase A complex (NatA). So far eight boys of two differe
Autor:
Pascal Joset, Martin Poms, Anaïs Begemann, Marie-Claude Addor, Thomas Luke Simmons, Reza Asadollahi, Andrea Klein, Markus Zweier, Rosa Baldinger, Barbara Plecko, Alessandra Baumer, Annette Hackenberg, Silvia Azzarello-Burri, Thomas Schmitt-Mechelke, Judith Kroell-Seger, Anita Rauch, Eileen Socher, Sorina Mihaela Papuc, Katharina Steindl, Lisa M. Crowther, Karoline Otten, Regula Schmid, Beatrice Oneda, Lucia Abela, Gabriele Wohlrab, Michelle Seiler, Laura Gogoll, Heinrich Sticht, Tobias Iff, Michael Papik, Bernhard Schmitt
Publikováno v:
European Journal of Human Genetics, 27 (3)
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421
Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa720540e7b52c866ebdfa91ddb6744
https://hdl.handle.net/20.500.11850/328368
https://hdl.handle.net/20.500.11850/328368
Autor:
Mario A. Acuña, Lucia Abela, Hanns Ulrich Zeilhofer, Markus Zweier, Yushi Inoue, Anaïs Begemann, Anita Rauch, Annette Hackenberg, Ruxandra Bachmann-Gagescu, Kazuhiro Yamakawa, Katharina Steindl, Judith Kroell-Seger, Barbara Plecko, Alessandra Baumer, Reza Asadollahi, Marie Vincent, Heinrich Sticht
Publikováno v:
Molecular Medicine
Molecular Medicine, 25 (1)
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)
Molecular Medicine, 25 (1)
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)
Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba47fd3543f58b58aa3f2217aa5be37d
http://gala.gre.ac.uk/id/eprint/36706/1/36706_ASADOLLAHI_Further_corroboration_of_distinct.pdf
http://gala.gre.ac.uk/id/eprint/36706/1/36706_ASADOLLAHI_Further_corroboration_of_distinct.pdf
Autor:
Daniela Karall, Katharina Steindl, Christine Fauth, Pascal Joset, Christian R. Marshall, Oliver Maier, Sebastian Böhm, Alessandra Baumer, Annick Toutain, Sandra A. Farrell, Johannes Zschocke, Anita Rauch, Rosanna Weksberg, Martina Witsch-Baumgartner
Publikováno v:
American Journal of Medical Genetics Part A. 170:392-402
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe mu