Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Renee C. Niessen"'
Autor:
M. de Raad, Renee C. Niessen, Roel Hordijk, Patrick Rump, Oebele F. Brouwer, K. T. Verbruggen
Publikováno v:
Clinical Genetics, 79(2), 183-188. Wiley
Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gen
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Autor:
Tsun Leung Chan, Eugène T P Verwiel, Irma Kluijt, Diana Eccles, Rolf H. Sijmons, Egbert J.W. Redeker, Rachel S. van der Post, Encarna B. Gomez Garcia, Reinhard Büttner, Cora M. Aalfs, Roland P. Kuiper, Johan J.P. Gille, Bernadette P M van Nesselrooij, Frans B. L. Hogervorst, Marjolijn J L Ligtenberg, Tracy Graham, Julie O. Culver, Edith Olah, Monique Goossens, Carli M. J. Tops, Elke Holinski-Feder, David J. Bunyan, Marielle E. van Gijn, Frederik J. Hes, Suet Yi Leung, Pierre O. Chappuis, Monika Morak, Edward M Leter, Nils Rahner, Lea Velsher, János Papp, Renee C. Niessen, J. Han van Krieken, Lambertus A. Kiemeney, Ad Geurts van Kessel, Charlotte W. Ockeloen, Nicoline Hoogerbrugge, Marlies Kempers, Iris D. Nagtegaal, Verena Steinke, Hans K. Schackert, Matthias Kloor, Melanie R. Palomares, Sapna Syngal, Pierre Hutter, Elena M. Stoffel
Publikováno v:
Kempers, M J E, Kuiper, R P, Ockeloen, C W, Chappuis, P O, Hutter, P, Rahner, N, Schackert, H K, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buttner, R, Verwiel, E T P, van Krieken, J H, Nagtegaal, I D, Goossens, M, van der Post, R S, Niessen, R C, Sijmons, RH, Kluijt, I, Hogervorst, F B L, Leter, E M, Gille, J J P, Aalfs, C M, Redeker, E J W, Hes, F J, Tops, C M J, van Nesselrooij, B P M, van Gijn, M E, Garcia, E B G, Eccles, D M, Bunyan, D J, Syngal, S, Stoffel, E M, Culver, J O, Palomares, M R, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, T L, Leung, S Y, van Kessel, A G, Kiemeney, L A L M, Hoogerbrugge, N & Ligtenberg, M J L 2011, ' Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study ', Lancet Oncology, vol. 12, no. 1, pp. 49-55 . https://doi.org/10.1016/S1470-2045(10)70265-5
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group
Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3′ end deletions of EPCAM
Autor:
Anja Wagner, Winand N.M. Dinjens, Alex Duval, Robert M.W. Hofstra, J.F. You, Jean-François Fléjou, Olivier Buhard, Renee C. Niessen, Ada Collura, Chrystelle Colas, Marjolijn J. L. Ligtenberg, Richard Hamelin, Olivier Lascols, Carolien M. Kets
Publikováno v:
British Journal of Cancer, 103(12), 1840-1845. Nature Publishing Group
British Journal of Cancer
British Journal of Cancer, 103, 12, pp. 1840-5
British Journal of Cancer, 103, 1840-5
British Jounal of Cancer, 103(12), 1840-1845. Nature Publishing Group
British Journal of Cancer
British Journal of Cancer, 103, 12, pp. 1840-5
British Journal of Cancer, 103, 1840-5
British Jounal of Cancer, 103(12), 1840-1845. Nature Publishing Group
BACKGROUND: Microsatellite instability (MSI) is commonly screened using a panel of two mononucleotide and three dinucleotide repeats as recommended by a consensus meeting on MSI tumours held at the National Cancer Institute (Bethesda, MD, USA). Accor
Autor:
Sónia Sousa, Renee C. Niessen, Robert M.W. Hofstra, Ana Ferreira, Maran J. W. Olderode-Berends, Helga Westers, Jan H. Kleibeuker, Tineke van der Sluis, Raquel Seruca, Rolf H. Sijmons, Harry Hollema, Peter Reuvekamp, Ying Wu
Publikováno v:
The Journal of Pathology. 219:96-102
A progressive accumulation of genetic alterations underlies the adenoma-carcinoma sequence of colorectal cancer. This accumulation of mutations is driven by genetic instability, of which there are different types. Microsatellite instability (MSI) is
Autor:
Wytske Boersma-van Ek, Paul O. J. Jager, Jan H. Kleibeuker, Helga Westers, Harry Hollema, Renee C. Niessen, Krista K. Bos, Rolf H. Sijmons, Robert M.W. Hofstra, Dennie Rozeveld
Publikováno v:
GENES CHROMOSOMES & CANCER, 48(4), 322-329. Wiley
It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that ger
Autor:
Renee C. Niessen, Jianghua Ou, Jan J. Vonk, Helga Westers, Robert M.W. Hofstra, Rolf H. Sijmons
Publikováno v:
Human Mutation, 29(11), 1337-1341. Wiley
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominantly-inherited disorder predominantly char
Autor:
Robert M.W. Hofstra, Jamal Zidan, Renee C. Niessen, Dennie Rozeveld, Yael Laitman, Eitan Friedman
Publikováno v:
Familial Cancer, 7(2), 135-139. SPRINGER
Germline mutations in DNA mismatch repair (DNA-MMR) genes, mainly MLH1, MSH2, and MSH6, underlie Hereditary non-polyposis colorectal cancer (HNPCC) and are mostly family-specific, with few reported founder mutations in MSH2 (Ashkenazim) MLH1 (Finnish
Autor:
Juan C. Díaz-Chico, Robert M.W. Hofstra, Diego Arango, Renee C. Niessen, Ana Ferreira, Raquel Ramírez, Alberto Plaja, E. Espin, Raquel Seruca, Germán Rodríguez, Sérgia Velho, Simó Schwartz, Hiroyuki Yamamoto, Laureano León, Luis Cirnes, Nicolás Díaz-Chico, Gisela Keller, Kohzoh Imai, Manel Armengol, Veronica Davalos, C. Bilbao, Johannes Gebert, Orlando Falcón, Manuel Perucho, G. Dallenbach-Hellweg, Stefan M. Woerner, Higinio Dopeso
Publikováno v:
ONCOGENE, 26(2), 308-311. Nature Publishing Group
The EPH/EFN family of receptor tyrosine kinases regulates cell adhesion and migration and has an important role in controlling cell positioning in the normal intestinal epithelium. Inactivation of EPHB2 has recently been shown to accelerate tumorigen
Autor:
Arend Karrenbeld, Mjw Berends, Ying Wu, Rolf H. Sijmons, Jan H. Kleibeuker, de Hermien Walle, M.J.L. Ligtenberg, Charles H.C.M. Buys, van der Aukje Zee, Robert M.W. Hofstra, de Elisabeth G. E. Vries, Harmen Hollema, Renee C. Niessen
Publikováno v:
Gut, 55, 1781-8
Gut, 55(12), 1781-1788. BMJ PUBLISHING GROUP
Gut, 55, 12, pp. 1781-8
Gut, 55(12), 1781-1788. BMJ PUBLISHING GROUP
Gut, 55, 12, pp. 1781-8
Contains fulltext : 51354.pdf (Publisher’s version ) (Closed access) BACKGROUND: Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise suspicion of
Autor:
Richard J. Sinke, Daniela Q.C.M. Barge-Schaapveld, Anna Pósafalvi, J. P van Tintelen, Sebastiaan R.D. Piers, Jasper J. van der Smagt, Paul A. van der Zwaag, Rudolf A. de Boer, Rowida Almomani, Maarten P. van den Berg, Folkert W. Asselbergs, Yvonne M. Hoedemaekers, Renee C. Niessen, Jan D. H. Jongbloed
Publikováno v:
Circulation. 130
INTRODUCTION: NGS techniques can be successfully applied to find mutations underlying genetic cardiomyopathies. However, Exome Sequencing (ES) shows incomplete representation and coverage of exons, leading to clinically relevant mutations being misse