Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ludwine M Messiaen"'
Autor:
Piotr Madanecki, Magdalena Bałut, Patrick G Buckley, J Renata Ochocka, Rafał Bartoszewski, David K Crossman, Ludwine M Messiaen, Arkadiusz Piotrowski
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0192858 (2018)
High-throughput technologies generate considerable amount of data which often requires bioinformatic expertise to analyze. Here we present High-Throughput Tabular Data Processor (HTDP), a platform independent Java program. HTDP works on any character
Externí odkaz:
https://doaj.org/article/f658580a84fd4c439d0e0746982585c7
Autor:
Magdalena Koczkowska, Yunjia Chen, Jing Xie, Tom Callens, Alicia Gomes, Katharina Wimmer, Ludwine M. Messiaen
Publikováno v:
Human Genetics.
Neurofibromatosis type 1 results from loss-of-function NF1 pathogenic variants (PVs). Up to 30% of all NF1 PVs disrupt mRNA splicing, including deep intronic variants. Here, we retrospectively investigated the spectrum of NF1 deep intronic PVs in a c
Autor:
Michael A. Tainsky, Ludwine M. Messiaen, Bruce R. Korf, Maria T. Acosta, Jaishri O. Blakeley, Sean J. Yoder, Zhihua Chen, Jacob P. Crowley, Renee N. Tousignant, Dhananjay A. Chitale, Patrick R. Gonzales, Roope A. Kallionpää, Xia Wang
TCGA invasive breast cancer mRNA expression, protein expression, and CNV comparison based on NF1 genetic alterations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ce3190172e758502e024957eed668f
https://doi.org/10.1158/1940-6207.22533689.v1
https://doi.org/10.1158/1940-6207.22533689.v1
Autor:
Michael A. Tainsky, Ludwine M. Messiaen, Bruce R. Korf, Maria T. Acosta, Jaishri O. Blakeley, Sean J. Yoder, Zhihua Chen, Jacob P. Crowley, Renee N. Tousignant, Dhananjay A. Chitale, Patrick R. Gonzales, Roope A. Kallionpää, Xia Wang
Supplement 2 Figure. NF+BrCa OncoScan CNV Whole Genome Histogram.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0051e2e7b8328f14ccada86058206d8a
https://doi.org/10.1158/1940-6207.22533692.v1
https://doi.org/10.1158/1940-6207.22533692.v1
Autor:
Michael A. Tainsky, Ludwine M. Messiaen, Bruce R. Korf, Maria T. Acosta, Jaishri O. Blakeley, Sean J. Yoder, Zhihua Chen, Jacob P. Crowley, Renee N. Tousignant, Dhananjay A. Chitale, Patrick R. Gonzales, Roope A. Kallionpää, Xia Wang
IHC Validation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042901a33289f6197d58367f6b7e47bf
https://doi.org/10.1158/1940-6207.22533695
https://doi.org/10.1158/1940-6207.22533695
Autor:
Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
Publikováno v:
Human Mutation. 43:643-654
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis
Autor:
Kairong Li, Ashley N. Turner, Min Chen, Stephanie N. Brosius, Trenton R. Schoeb, Ludwine M. Messiaen, David M. Bedwell, Kurt R. Zinn, Corina Anastasaki, David H. Gutmann, Bruce R. Korf, Robert A. Kesterson
Publikováno v:
Disease Models & Mechanisms, Vol 9, Iss 7, Pp 759-767 (2016)
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity. Some translational studies have been limited by the lack of animal models available for assess
Autor:
Ludwine M. Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman, Anne De Paepe
Publikováno v:
Human mutation. 15(6)
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to the large size of the NF1 gene, the presence of pseudogenes and the great variety o