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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

Developments in Genetics: Better Management of Ovarian Cancer Patients.

Autor: Maioru, Ovidiu-Virgil¹ (AUTHOR) maioru.ovidiu@gmail.com, Radoi, Viorica-Elena^1,2 (AUTHOR) mcoman29@gmail.com, Coman, Madalin-Codrut¹ (AUTHOR) dandra.crgm@gmail.com, Hotinceanu, Iulian-Andrei¹ (AUTHOR) anca.eftenoiu@gmail.com, Dan, Andra¹ (AUTHOR) burtavelmalina@gmail.com, Eftenoiu, Anca-Elena¹ (AUTHOR) laurentiu.bohiltea@umfcd.ro, Burtavel, Livia-Mălina¹ (AUTHOR) emilia.severin@umfcd.ro, Bohiltea, Laurentiu-Camil^1,2 (AUTHOR), Severin, Emilia-Maria¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15987. 25p.

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21.

Autor: Wijker, M, Wszolek, Z K, Wolters, E C, Rooimans, M A, Pals, G, Pfeiffer, R F, Lynch, T, Rodnitzky, R L, Wilhelmsen, K C, Arwert, F

Publikováno v: Human Molecular Genetics; January 1996, Vol. 5 Issue: 1 p151-154, 4p