Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Sjozef van Baal"'
Autor:
George P. Patrinos, Sjozef van Baal, Emmanouil Viennas, Dimitris Antoniou, Giannis Tzimas, Marianthi Georgitsi, Emanuel F. Petricoin, Konstantinos Poulas, Vassiliki Gkantouna
Publikováno v:
Nucleic Acids Research; Vol 39
Nucleic Acids Research
Nucleic Acids Research
Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1b4728a902cb75e900c11a94eae92a
Autor:
George P. Patrinos, Joël Zlotogora, Ioannis Tzimas, George Lagoumintzis, Vassiliki Gkantouna, Konstantinos Poulas, Sjozef van Baal, A. Tsakalidis, Giovanni Romeo
Publikováno v:
Human Genomics, Vol 4, Iss 5, Pp 361-368 (2010)
Human Genomics
Human Genomics
National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f9ef76143aa010ee3e58156859dd9b
http://www.humgenomics.com/content/4/5/361
http://www.humgenomics.com/content/4/5/361
Autor:
Mila Ljujic, Timothy D. Smith, George P. Patrinos, Dragica Radojkovic, Konstantinos Mitropoulos, Sophia Zaimidou, Sjozef van Baal, Richard G.H. Cotton
Publikováno v:
Human Mutation. 30:308-313
We have developed a relational database of human SERPINA1 gene mutations, leading to alpha(1)-antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c4edfb633db9400fb6ebd6bfed75db
https://doi.org/10.1002/humu.20857
https://doi.org/10.1002/humu.20857
Autor:
Sjozef van Baal, Kelli L. Boyd, Patrick Franken, Gerard Grosveld, Riccardo Fodde, Ugur Ozbek, Ayten Kandilci, Jacqueline Bonten
Publikováno v:
The American Journal of Pathology. 171:654-666
Leukemia-specific chromosome translocations involving the nucleoporin CAN/NUP214 lead to expression of different fusion genes including DEK-CAN, CAN-ABL, and SET-CAN. DEK-CAN and CAN-ABL1 are associated with acute myeloid leukemia and T-cell acute ly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::455633e1a833d7e5fa300b471ff72099
https://doi.org/10.2353/ajpath.2007.060934
https://doi.org/10.2353/ajpath.2007.060934
Autor:
Gerard Grosveld, K. Gopal Murti, Sjozef van Baal, Maarten Fornerod, Albert B. Reynolds, Donna S. Davis, Jack Fransen, Jan M. van Deursen
Publikováno v:
EMBO Journal, 16, 4, pp. 807-816
EMBO Journal, 16, 807-816
EMBO Journal, 16, 807-816
The oncogenic nucleoporin CAN/Nup214 is essential in vertebrate cells. Its depletion results in defective nuclear protein import, inhibition of messenger RNA export and cell cycle arrest. We recently found that CAN associates with proteins of 88 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce4fa945fdb42605e0c93b59ab57ab84
https://hdl.handle.net/2066/24994
https://hdl.handle.net/2066/24994
Autor:
Marieke von Lindern, Anne Hagemeijer, Maarten Fornerod, Gerard Grosveld, Martine Jaegle, Nike Soekarman, Dirk Bootsma, Sjozef van Baal
Publikováno v:
Baillière s clinical haematology, 5(4), 857-879. Bailliere Tindall Ltd
Summary The t(6;9) that characterizes a specific subtype of ANLL fuses the 3′ part of a gene located on chromosome 9q34, CAN , to the 5′ part of a gene located on chromosome 6p23, DEK. On the 6p− chromosome, the resulting DEK-CAN fusion gene is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4800d32f7bda6bbe945112c9ce55108f
https://doi.org/10.1016/s0950-3536(11)80049-1
https://doi.org/10.1016/s0950-3536(11)80049-1
Publikováno v:
The Israel Medical Association journal : IMAJ. 11(6)
The Israeli National Genetic Database http//www.goldenhelix. org/israeli is a continuously updated depository on monogenic genetic disorders that are present in the various Israeli populations. It provides the means of obtaining information for clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea65cfacc8ff69b8863f9113cb5b8a2c
https://pubmed.ncbi.nlm.nih.gov/19697591
https://pubmed.ncbi.nlm.nih.gov/19697591
Autor:
David H.K. Chui, Cathy Riemer, Panagoula Kollia, Ross C. Hardison, Sjozef van Baal, Nicholas P. Anagnou, Polynikis Kaimakis, Maria Samara, Henri Wajcman, Belinda Giardine, Webb Miller, George P. Patrinos
Publikováno v:
Human Mutation, 28(2). Wiley-Liss Inc.
HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be0a9a95ff134c7bff5a626b985228a
https://pubmed.ncbi.nlm.nih.gov/17221864
https://pubmed.ncbi.nlm.nih.gov/17221864
Autor:
Harry Cuppens, Sjozef van Baal, Francesca Riccardino, Manyphong Phommarinh, George P. Patrinos, Polynikis Kaimakis, Milan Macek, Charles R. Scriver, Daphne Koumbi
Publikováno v:
Nucleic Acids Research, 35, D690-D695. Oxford University Press
Nucleic Acids Research
Nucleic Acids Research
Frequency of INherited Disorders database (FINDbase) (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8b054215a94d65ebf9a539492a8f4b
https://pure.eur.nl/en/publications/7c1d955e-856d-43df-8713-df4ff2929bc6
https://pure.eur.nl/en/publications/7c1d955e-856d-43df-8713-df4ff2929bc6
Publikováno v:
Human Mutation, 28(10), 944-949. Wiley-Liss Inc.
The National and Ethnic Mutation Databases (NEMDBs) are continuously updated mutation depositories that contain extensive information on the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Isr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eadbee3837854b646e24b4662097f61
https://pure.eur.nl/en/publications/ee1c78c3-c142-488b-b0e9-7fcff51fdf63
https://pure.eur.nl/en/publications/ee1c78c3-c142-488b-b0e9-7fcff51fdf63