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Results: 1-25 | 26-26
Results: 1-25/26
Molecular and clinical characteristics of MSH6 variants: An analysis of 25index carriers of a germline variant
Authors: Berends, MJW Wu, Y Sijmons, RH Mensink, RGJ van der Sluis, T Hordijk-Hos, JM de Vries, EGE Hollema, H Karrenbeld, A Buys, CHCM van der Zee, AGJ Hofstra, RMW Kleibeuker, JH
Citation: Mjw. Berends et al., Molecular and clinical characteristics of MSH6 variants: An analysis of 25index carriers of a germline variant, AM J HU GEN, 70(1), 2002, pp. 26-37
A role for MLH3 in hereditary nonpolyposis colorectal cancer
Authors: Wu, Y Berends, MJW Sijmons, RH Mensink, RGJ Verlind, E Kooi, KA van der Sluis, T Kempinga, C van der Zee, AGJ Hollema, H Buys, CHCM Kleibeuker, JH Hofstra, RMW
Citation: Y. Wu et al., A role for MLH3 in hereditary nonpolyposis colorectal cancer, NAT GENET, 29(2), 2001, pp. 137-138
Clinical definition of hereditary non-polyposis colorectal cancer: A search for the impossible?
Authors: Berends, MJW Wu, Y Sijmons, RH Hofstra, RMW van der Zee, AGJ Buys, CHCM Kleibeuker, JH
Citation: Mjw. Berends et al., Clinical definition of hereditary non-polyposis colorectal cancer: A search for the impossible?, SC J GASTR, 36, 2001, pp. 61-67
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer
Authors: 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
Citation: Mjw. Berends et al., MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer, INT J CANC, 92(3), 2001, pp. 398-403
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
Authors: Gath, R Goessling, A Keller, KM Koletzko, S Coerdt, W Muntefering, H Wirth, S Hofstra, RMW Mulligan, L Eng, C von Deimling, A
Citation: R. Gath et al., Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease, GUT, 48(5), 2001, pp. 671-675
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms
Authors: Wu, Y Berends, MJW Post, JG Mensink, RGJ Verlind, E Van Der Sluis, T Kempinga, C Sijmons, RH Van der Zee, AGJ Hollema, H Kleibeuker, JH Buys, CHCM Hofstra, RMW
Citation: Y. Wu et al., Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms, GASTROENTY, 120(7), 2001, pp. 1580-1587
Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer
Authors: Bleeker, WA Hayes, VM Karrenbeld, A Hofstra, RMW Verlind, E Hermans, J Poppema, S Buys, CHCM Plukker, JTM
Citation: Wa. Bleeker et al., Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer, DIS COL REC, 44(3), 2001, pp. 358-363
Mutational analyses of BRCA1 and BRCA2 with Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer
Authors: Shiri-Sverdlov, R Oefner, P Green, L Baruch, RG Wagner, T Kruglikova, A Haitchick, S Hofstra, RMW Papa, MZ Mulder, I Rizel, S Sade, RBB Dagan, E Abdeen, Z Goldman, B Friedman, E
Citation: R. Shiri-sverdlov et al., Mutational analyses of BRCA1 and BRCA2 with Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer, HUM MUTAT, 16(6), 2000, pp. 491-501
RET and GDNF gene scanning in Hirschprung patients using two dual denaturing gel systems
Authors: Hofstra, RMW Wu, Y Stulp, RP Elfferich, P Osinga, J Maas, SM Siderius, L Brooks, AS Von der Ende, JJ Heydendael, VMR Severijnen, RSVM Bax, KMA Meijers, C Buys, CHCM
Citation: Rmw. Hofstra et al., RET and GDNF gene scanning in Hirschprung patients using two dual denaturing gel systems, HUM MUTAT, 15(5), 2000, pp. 418-429
New comprehensive denaturing-gradient-gel-electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours
Authors: Hayes, VM Westra, JL Verlind, E Bleeker, W Plukker, JT Hofstra, RMW Buys, CHCM
Citation: Vm. Hayes et al., New comprehensive denaturing-gradient-gel-electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours, GENE CHROM, 29(4), 2000, pp. 309-314
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus
Authors: Sztriha, L Frossard, P Hofstra, RMW Verlind, E Nork, M
Citation: L. Sztriha et al., Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus, J CHILD NEU, 15(4), 2000, pp. 239-243
MASA syndrome: ultrasonographic evidence in a male fetus
Authors: Pomili, G Donti, GV Carrozza, LA Ardisia, C Servidio, F Hofstra, RMW Gilardi, G Donti, E
Citation: G. Pomili et al., MASA syndrome: ultrasonographic evidence in a male fetus, PRENAT DIAG, 20(12), 2000, pp. 1012-1014
Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?
Authors: Berends, MJW Cats, A Hollema, H Karrenbeld, A Beentjes, JAM Sijmons, RH Mensink, RGJ Hofstra, RMW Verschueren, RCJ Kleibeuker, JH
Citation: Mjw. Berends et al., Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?, HUMAN PATH, 31(12), 2000, pp. 1522-1527
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
Authors: Bolk, S Pelet, A Hofstra, RMW Angrist, M Salomon, R Croaker, D Buys, CHCM Lyonnet, S Chakravarti, A
Citation: S. Bolk et al., A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus, P NAS US, 97(1), 2000, pp. 268-273
Reduced endothelin-3 expression in sporadic Hirschsprung disease
Authors: Kenny, SE Hofstra, RMW Buys, CHCM Vaillant, CR Lloyd, DA Edgar, DH
Citation: Se. Kenny et al., Reduced endothelin-3 expression in sporadic Hirschsprung disease, BR J SURG, 87(5), 2000, pp. 580-585
Impact of KRAS and TP53 mutations on survival in patients with left- and right-sided Dukes' C colon cancer
Authors: Bleeker, WA Hayes, VM Karrenbeld, A Hofstra, RMW Hermans, J Buys, CCM Plukker, JTM
Citation: Wa. Bleeker et al., Impact of KRAS and TP53 mutations on survival in patients with left- and right-sided Dukes' C colon cancer, AM J GASTRO, 95(10), 2000, pp. 2953-2957
Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue
Authors: Hayes, VM Bleeker, W Verlind, E Timmer, T Karrenbeld, A Plukker, JT Marx, MP Hofstra, RMW Buys, CHCM
Citation: Vm. Hayes et al., Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue, DIAGN MOL P, 8(1), 1999, pp. 2-10
High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors
Authors: Hayes, VM Dirven, CMF Dam, A Verlind, E Molenaar, WM Mooij, JJA Hofstra, RMW Buys, CHCM
Citation: Vm. Hayes et al., High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors, BRAIN PATH, 9(3), 1999, pp. 463-467
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effecters to a multifunctional docking site
Authors: Geneste, O Bidaud, C De Vita, G Hofstra, RMW Tartare-Deckert, S Buys, CHCM Lenoir, GM Santoro, M Billaud, M
Citation: O. Geneste et al., Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effecters to a multifunctional docking site, HUM MOL GEN, 8(11), 1999, pp. 1989-1999
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22
Authors: Verheij, JBGM Bouman, K van Lingen, RA Campagne, JGV Leegte, B van der Veen, AY Hofstra, RMW Buys, CHCM van Essen, AJ
Citation: Jbgm. Verheij et al., Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22, AM J MED G, 86(2), 1999, pp. 168-173
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
Authors: Brooks, AS Breuning, MH Osinga, J Van der Smagt, JJ Catsman, CE Buys, CHCM Meijers, C Hofstra, RMW
Citation: As. Brooks et al., A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome), J MED GENET, 36(6), 1999, pp. 485-489
A Hirschsprung disease locus at 22q11?
Authors: Kerstjens-Frederikse, WS Hofstra, RMW van Essen, AJ Meijers, JHC Buys, CHCM
Citation: Ws. Kerstjens-frederikse et al., A Hirschsprung disease locus at 22q11?, J MED GENET, 36(3), 1999, pp. 221-224
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
Authors: Hordijk, R Wierenga, H Scheffer, H Leegte, B Hofstra, RMW Stolte-Dijkstra, I
Citation: R. Hordijk et al., Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype, J MED GENET, 36(10), 1999, pp. 782-785
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations
Authors: Wu, Y Berends, MJW Mensink, RGJ Kempinga, C Sijmons, RH van der Zee, AGJ Hollema, H Kleibeuker, JH Buys, CHCM Hofstra, RMW
Citation: Y. Wu et al., Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations, AM J HU GEN, 65(5), 1999, pp. 1291-1298
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
Authors: Hofstra, RMW Valdenaire, O Arch, E Osinga, J Kroes, H Loffler, BM Hamosh, A Meijers, C Buys, CHCM
Citation: Rmw. Hofstra et al., A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction, AM J HU GEN, 64(1), 1999, pp. 304-308
Risultati: 1-25 | 26-26