Zobrazeno 1 - 10
of 49
pro vyhledávání: '"single‐molecule molecular inversion probes"'
Akademický článek
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Autor:
Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L. Mehrem, Ariane C. Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada‐Iglesias, Michaela Bartusel, Augusto Rojas‐Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M. Nöthen, Michael Nothnagel, Tim Becker, Kerstin U. Ludwig, Elisabeth Mangold
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability
Externí odkaz:
https://doaj.org/article/205be1f83d914d678ac7257527a61a58
Autor:
Krissie Lenting, Corina N. A. M. van den Heuvel, Anne van Ewijk, Duaa ElMelik, Remco de Boer, Elizabeth Tindall, Ge Wei, Benno Kusters, Maarten te Dorsthorst, Mark ter Laan, Martijn A. Huynen, William P. Leenders
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-15 (2019)
Abstract Many biology-based precision drugs are available that neutralize aberrant molecular pathways in cancer. Molecular heterogeneity and the lack of reliable companion diagnostic biomarkers for many drugs makes targeted treatment of cancer inaccu
Externí odkaz:
https://doaj.org/article/295b2e41b8a84f889a698d9f2d2d97e1
Akademický článek
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Autor:
Ciaron McAnulty, Ghanim Alhilal, Michael S. Jackson, Richard Gallon, Harsh Sheth, Sira Moreno Laguna, Gillian M. Borthwick, Angel Alonso, John Burn, Mauro Santibanez-Koref, Amanda Waltham, C Hayes, Helena L. Spiewak, Lisa Redford, Osagie G. Izuogu, Mark J. Arends, O. O'brien, Anca Oniscu
Publikováno v:
Human Mutation
Gallon, R, Sheth, H, Hayes, C, Redford, L, Alhilal, G, O’Brien, O, Spiewak, H, Waltham, A, McAnulty, C, Izuogu, O, Arends, M, Oniscu, A, Miguel Alonso, Á, Moreno Laguna, S, Borthwick, G, Santibanez Koref, M, Jackson, M S & Burn, J 2019, ' Sequencing-based microsatellite instability testing using as few as six markers for high throughput clinical diagnostics ', Human Mutation . https://doi.org/10.1002/humu.23906
Gallon, R, Sheth, H, Hayes, C, Redford, L, Alhilal, G, O’Brien, O, Spiewak, H, Waltham, A, McAnulty, C, Izuogu, O, Arends, M, Oniscu, A, Miguel Alonso, Á, Moreno Laguna, S, Borthwick, G, Santibanez Koref, M, Jackson, M S & Burn, J 2019, ' Sequencing-based microsatellite instability testing using as few as six markers for high throughput clinical diagnostics ', Human Mutation . https://doi.org/10.1002/humu.23906
Microsatellite instability (MSI) testing of colorectal cancers (CRCs) is used to screen for Lynch syndrome (LS), a hereditary cancer‐predisposition, and can be used to predict response to immunotherapy. Here, we present a single‐molecule molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf7107f845710b3b720be0ba8b2b221
https://doi.org/10.1002/humu.23906
https://doi.org/10.1002/humu.23906
Autor:
Kelly A.E. Sinx, Ernst-Jan M. Speel, Virrie van Zutven, Michel van Geel, P.M. Steijlen, Renske Janssen, Guido M.J.M. Roemen, Klara Mosterd
Publikováno v:
JAAD Case Reports, 4(5), 408-11. Elsevier Inc.
JAAD Case Reports
JAAD Case Reports
Basal cell nevus syndrome (BCNS, Gorlin syndrome) is a rare inherited disorder characterized by the development of multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and palmar pits.1 BCC development is caused by sonic hedgehog pathway (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17a9e4ff75fb9b9aa0e5b64c564ad5bd
https://doi.org/10.1016/j.jdcr.2017.11.011
https://doi.org/10.1016/j.jdcr.2017.11.011
Akademický článek
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Autor:
Debora Braslavsky, Rosemary M. Lemons, Sally A. Camper, Adriana Seilicovich, Amanda H. Mortensen, Alexandre Z. Daly, Marcelo A. Martí, María Inés Pérez Millán, Ignacio Bergadá, Jacob O. Kitzman, Ana Keselman, Sebastián Alexis Vishnopolska, Juan Pablo Bustamante
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicine
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicine
Background: Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% of the patients, but most c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b046a58dc3418b5eadfabc2d4e5c9453
http://doi.wiley.com/10.1002/mgg3.395
http://doi.wiley.com/10.1002/mgg3.395
Autor:
Gallon, R., Muhlegger, B., Wenzel, S.S., Sheth, H., Hayes, C., Aretz, S., Dahan, K., Foulkes, W., Kratz, C.P., Ripperger, T., Azizi, A.A., Feldman, H.B., Chong, A.L., Demirsoy, U., Florkin, B., Imschweiler, T., Januszkiewicz-Lewandowska, D., Lobitz, S., Nathrath, M., Pander, H.J., Perez-Alonso, V., Perne, C., Ragab, I., Rosenbaum, T., Rueda, D., Seidel, M.G., Suerink, M., Taeubner, J., Zimmermann, S.Y., Zschocke, J., Borthwick, G.M., Burn, J., Jackson, M.S., Santibanez-Koref, M., Wimmer, K.
Publikováno v:
Human Mutation
Human Mutation, 40(5), 649-655. WILEY
Human Mutation, 40(5), 649-655. WILEY
Constitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of numerous pediatric malignancies and benefit from surveillance and adjus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::65f5807b9db27cbc1c83f6ec1fc966fe
https://hdl.handle.net/1887/3195147
https://hdl.handle.net/1887/3195147
Autor:
Anne van Ewijk, Tessa J. J. de Bitter, Peter F.A. Mulders, Carolien Zeelen, William P.J. Leenders, Corina N. A. M. van den Heuvel, Egbert Oosterwijk, Martijn A. Huynen
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Frontiers in Oncology, 9
Frontiers in Oncology
Frontiers in Oncology, 9
Frontiers in Oncology
Clear cell renal cell carcinoma (ccRCC) comprises more than 80% of all renal cancers and when metastasized leads to a 5-year survival rate of only 10%. The high rate of therapy failure and resistance development calls for reliable methods that provid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca902e7730f1a5bc62c66d37ece71be2
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/202089
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/202089