Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Hofstra RMW"'
Autor:
Tang, CS, Hui, KJWS, Sham, PC, Tam, PKH, Cherny, SS, Leon, YY, So, MT, Burzynski, G, De Vries, AR, Miao, XP, Sribudiani, Y, Hofstra, RMW, Verheij, JBGM, GarciaBarceló, MM, Osinga, J, Yip, BH
Publikováno v:
HUMAN GENETICS, 127(6), 675-683. SPRINGER
Human Genetics
Human Genetics
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the in
Autor:
Alhopuro P, Sammalkorpi H, Niittymxe4ki I, Bistrxf6m M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Helixf6vaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RMW, Mecklin JP, Jxe4rvinen H, Ristimxe4ki A, xd8rntoft TF, Hautaniemi S, Arango D, Karhu A & Aaltonen LA.
Publikováno v:
International Journal of Cancer.
Publikováno v:
Journal of Clinical Oncology, 23(35), 9032-9033. AMER SOC CLINICAL ONCOLOGY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8f896a59d1f68242737db1106467e9a3
https://research.rug.nl/en/publications/3fbefdd1-e1be-4ba2-80e2-0db8e8e6ecfa
https://research.rug.nl/en/publications/3fbefdd1-e1be-4ba2-80e2-0db8e8e6ecfa
Publikováno v:
Clinical Genetics, 67(1), 6-14. Wiley-Blackwell Publishing Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7b9055a28df7319c07022a4b181e13e7
https://pure.eur.nl/en/publications/16d7191d-b34b-42a6-9cd5-dc27ad18dc0c
https://pure.eur.nl/en/publications/16d7191d-b34b-42a6-9cd5-dc27ad18dc0c
Publikováno v:
Clinical Genetics, 67, 6-14. Wiley-Blackwell Publishing Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::612dd8e0942476a3fd958f23880a67ef
https://pure.eur.nl/en/publications/71b4cfa0-1a22-4bc8-817a-8d585ffcb8b6
https://pure.eur.nl/en/publications/71b4cfa0-1a22-4bc8-817a-8d585ffcb8b6
Autor:
Crijns, APG, Boezen, HM, Schouten, JP, Arts, HJG, Hofstra, RMW, Willemse, PHB, de Vries, EGE, van der Zee, AGJ
Publikováno v:
Ejc supplements, 1(6), 127-145
In ovarian cancer, translational research on the prognostic impact of molecular biological factors has until now not led to clinical implementation of any of these factors. This is partly due to the often conflicting results of different prognostic f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::64a282b99e9b027996b90904ee15f4f4
https://research.rug.nl/en/publications/107028a3-afb2-459d-b83d-029ad1fbff17
https://research.rug.nl/en/publications/107028a3-afb2-459d-b83d-029ad1fbff17
Autor:
de Jong, MM, Nolte, IM, te Meerman, Gerard J., van der Graaf, WTA, de Vries, EGE, Sijmons, RH, Hofstra, RMW, Kleibeuker, JH
Publikováno v:
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 11(11), 1332-1352. AMER ASSOC CANCER RESEARCH
This report focuses on low-penetrance genes that are associated with colorectal adenoma and/or cancer or that are in strong linkage disequilibrium with colorectal adenoma and/or cancer causing variants. A pooled analysis was performed for 30 polymorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::b0fb68bb2cd0b8732fd866323abd0d6b
https://research.rug.nl/en/publications/b7ff9488-72d7-40e4-ae4a-6200915aeccd
https://research.rug.nl/en/publications/b7ff9488-72d7-40e4-ae4a-6200915aeccd
Autor:
Parisi, MA, Kapur, RP, Neilson, [No Value], Hofstra, RMW, Holloway, LW, Michaelis, RC, Leppig, KA
Publikováno v:
American Journal of Medical Genetics, 108(1), 51-56. WILEY-LISS
Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe ment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::a34d1e38e0b592b0b363058649919fcf
https://research.rug.nl/en/publications/317e2779-f16b-4ad6-9506-6b5794a0ec10
https://research.rug.nl/en/publications/317e2779-f16b-4ad6-9506-6b5794a0ec10
Autor:
Nolte, IM, Bruinenberg, M, Spijker, GT, Terpstra, P, Raelson, J, De Keyser, J, Zwanikken, CP, Hulsbeek, M, Hofstra, RMW, Buys, CHCM, Meerman, GJT
Publikováno v:
Neurogenetics, 3(4), 221-230. SPRINGER
Multiple sclerosis (MS) is a complex disease that is partly genetic in origin. Although an association of MS with specific human leukocyte antigen (HLA) types has been known for almost 30 years, the nature of this relationship has remained unclear. F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::6c31129f259dc8f2259bf37de08617c1
https://research.rug.nl/en/publications/00cd200c-8ac4-4a67-91f0-d52800ca3180
https://research.rug.nl/en/publications/00cd200c-8ac4-4a67-91f0-d52800ca3180
Autor:
Berends, MJW, Hollema, H, Wu, Y, van der Sluis, T, Mensink, RGJ, ten Hoor, KA, Sijmons, RH, de Vries, EGE, Pras, E, Mourits, MJE, Hofstra, RMW, Buys, CHCM, Kleibeuker, JH, van der Zee, AGJ
Publikováno v:
International Journal of Cancer, 92(3), 398-403. Wiley
The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (1) 10 endometrial cancer patients from hereditary non-poly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::49321023274038dafd9b783abe5e3ae9
https://research.rug.nl/en/publications/7ab96b14-5526-4d0c-b123-0d8cc1f7a597
https://research.rug.nl/en/publications/7ab96b14-5526-4d0c-b123-0d8cc1f7a597