Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lutgarde, Govaerts"'
Autor:
Danielle Veenma, Niels Beurskens, Hannie Douben, Bert Eussen, Petra Noomen, Lutgarde Govaerts, Els Grijseels, Maarten Lequin, Ronald de Krijger, Dick Tibboel, Annelies de Klein, Dian Van Opstal
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15348 (2010)
In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a l
Externí odkaz:
https://doaj.org/article/f91cbd2ee2a74ad4ad310e182a5608ff
Autor:
Lutgarde, Govaerts, Malgorzata, Srebniak, Karin, Diderich, Marieke, Joosten, Sam, Riedijk, Maarten, Knapen, Attie, Go, Dimitri, Papatsonis, Katja, de Graaf, Toon, Toolenaar, Sanne, van der Steen, Gido, Huijbregts, Jeroen, Knijnenburg, Femke, de Vries, Diane, Van Opstal, Robert-Jan, Galjaard
Publikováno v:
Prenatal diagnosis. 37(1)
Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd0ceec537abae4fed1354e008cfe2b8
https://pubmed.ncbi.nlm.nih.gov/27931090
https://pubmed.ncbi.nlm.nih.gov/27931090
Autor:
Lutgarde Govaerts, Nicoline Hoogerbrugge, Eugène T P Verwiel, Eveline J. Kamping, Eric F.P.M. Schoenmakers, Roland P. Kuiper, Evelyne Lerut, Lilian Vreede, Eamonn R. Maher, Femke van Erp, Anita Bonne, Lianne van Kempen, Maria Debiec-Rychter, Ad Geurts van Kessel, Ramprasath Venkatachalam, Chris Ricketts
Publikováno v:
Cancer Genetics and Cytogenetics, 195, 105-11
Cancer Genetics and Cytogenetics, 195, 2, pp. 105-11
Cancer Genetics & Cytogenetics, 195(2), 105-111. Elsevier Inc.
Cancer Genetics and Cytogenetics, 195, 2, pp. 105-11
Cancer Genetics & Cytogenetics, 195(2), 105-111. Elsevier Inc.
Contains fulltext : 81144.pdf (Publisher’s version ) (Closed access) FBXW7 (alias CDC4) is a p53-dependent tumor suppressor gene that exhibits mutations or deletions in a variety of human tumors. Mutation or deletion of the FBXW7 gene has been asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98f3ec8943b248306adbd06dd28d3c4
https://doi.org/10.1016/j.cancergencyto.2009.07.001
https://doi.org/10.1016/j.cancergencyto.2009.07.001
Publikováno v:
Cancer genetics and cytogenetics. 30(2)
Cytogenetic investigation of the bone marrow cells of an 88-year-old woman with refractory anemia with an excess of blasts in transformation with progression to acute myelocytic leukemia (AML), FAB classification M4, revealed a deleted chromosome #8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971aaf98b4a895cc9828e90d9867594e
https://pubmed.ncbi.nlm.nih.gov/3422584
https://pubmed.ncbi.nlm.nih.gov/3422584
Publikováno v:
Neuropediatrics. 16(4)
The aim of this study was to describe the EEGs, brainstem auditory evoked potentials and somatosensory evoked potentials obtained in eleven children with the Zellweger syndrome. In six out of the eleven patients BAEPs and in five of them SSEPs were p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840ce4bd0581e3cce318474381684a2d
https://pubmed.ncbi.nlm.nih.gov/4080093
https://pubmed.ncbi.nlm.nih.gov/4080093