Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

Autor: Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M. Neuhann

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

BackgroundEpilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom. The exact

Externí odkaz: https://doaj.org/article/ddb88b4a6eb14a39be8ecc8917e83de0

Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

Autor: Hanna Lausmann, Martin Zacharias, Teresa M. Neuhann, Melanie K. Locher, Karl F. Schettler

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic feat

Externí odkaz: https://doaj.org/article/74c0e555fe3c4be1acf51c154e42ae2b

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Autor: Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)

The original version of this Article contained an error in Figure 4. In panel i, the lower CYA and α-SMA images were inadvertently inverted. This has been corrected in both the PDF and HTML versions of the Article.

Externí odkaz: https://doaj.org/article/91998b811fb04dc49bc89c5cca50080b

Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study

Autor: Teresa M. Neuhann, Katharina Haub, Verena Steinke-Lange, Monika Morak, Andreas Laner, Melanie Locher, Elke Holinski-Feder

Publikováno v: Familial cancer. 21(4)

Prospective short-term studies on effectiveness of non-steroidal anti-inflammatory drugs (NSAIDs) point towards a decrease in the number and size of polyps. Effectiveness and safety in the prevention of progression in familial polyposis with NSAIDs i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4a5073adee5a906bb8157d144e3f31
https://pubmed.ncbi.nlm.nih.gov/35570229

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Autor: Marco Tartaglia, Elizabeth J. Bhoj, Hakon Hakonarson, Megan Christine Rodriguez, Emily G. Farrow, Dihong Zhou, James R. Lupski, Zeynep Coban-Akdemir, Adam Jackson, Promita Ghosh, Simone Pizzi, Giuseppe Zampino, James Fasham, Siddharth Banka, Jennifer Kussman, Olivia Wenger, Kenneth G. Zahka, Sarah E Sheppard, Roberta Onesimo, Francesca Clementina Radio, Emma L. Baple, Teresa M. Neuhann, Barbara Triggs-Raine, Emily N. Barker, Jenina E. Capasso, Kate Chandler, Barry A. Chioza, Ingrid M. Wentzensen, Alex V. Levin, Siying Lin, Lettie E. Rawlins, Isabelle Thiffault, Elaine H. Zackai, Andrew H. Crosby, Natasha Osawa, Adam C. Gunning, Rick Hemming, Dong Li, Beth Keena, Jennifer E. Posey

Publikováno v: Genetics in Medicine
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2021, ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014

PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e42d4e3397b915b7bee7d0ec0d2355