Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Autor: Knies, K., Schuster, B., Ameziane, N., Rooimans, M., Bettecken, T., de Winter, J.P., Schindler, D

Publikováno v: PLoS ONE, 7(12), e52648-e52648. Public Library of Science
PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e52648 (2012)
Knies, K, Schuster, B, Ameziane, N, Rooimans, M, Bettecken, T, de Winter, J P & Schindler, D 2012, ' Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges ', PLoS ONE, vol. 7, no. 12, pp. e52648-e52648 . https://doi.org/10.1371/journal.pone.0052648

Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::da3be881772cf8e095d81a11c670c976
https://opus.bibliothek.uni-wuerzburg.de/files/6632/084_journal.pone.0052648.pdf

Tailoring heated intraperitoneal mitomycin C for peritoneal metastases originating from colorectal carcinoma: a translational approach to improve survival.

Autor: Kwakman, R, de Cuba, E M V, de Winter, J P, de Hingh, I H J T, Delis-van Diemen, P M, Tijssen, M, Rooimans, M A, Krijgsman, O, Carvalho, B, Peters, G J, Bonjer, H J, Meijer, G A, te Velde, E A

Publikováno v: British Journal of Cancer; 3/3/2015, Vol. 112 Issue 5, p851-856, 6p, 1 Black and White Photograph, 2 Diagrams, 2 Graphs

The Chinese hamster V79 cell mutant V-H4 is phenotypically like Fanconi anemia cells.

Autor: Zdzienicka, M., Arwert, F., Neuteboom, I., Rooimans, M., Simons, J.

Publikováno v: Somatic Cell & Molecular Genetics; 1990, Vol. 16 Issue 6, p575-581, 7p

Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance

Autor: Lo Ten Foe, J. R., Kwee, M. L., Rooimans, M. A., Oostra, A. B., Veerman, A. J. P., Weel, M., Pauli, R. M., Shahidi, N. T., Dokal, I., Roberts, I., Altay, C., Gluckman, E., Gibson, R. A., Christopher George Mathew, Arwert, F., Joenje, H.

Publikováno v: Scopus-Elsevier

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http://www.scopus.com/inward/record.url?eid=2-s2.0-12644293813&partnerID=MN8TOARS

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