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Results: 1-25 | 26-36 |
Results: 26-36/36
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
An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3, a region frequently deleted in a variety of cancers
Authors: Timmer, T Terpstra, P van den Berg, A Veldhuis, PMJF Ter Elst, A van der Veen, AY Kok, K Naylor, SL Buys, CHCM
Citation: T. Timmer et al., An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3, a region frequently deleted in a variety of cancers, GENOMICS, 60(2), 1999, pp. 238-240
An EGP-2/Ep-CAM-expressing transgenic rat model to evaluate antibody-mediated immunotherapy
Authors: McLaughlin, PMJ Kroesen, BJ Dokter, WHA van der Molen, H de Groot, M Brinker, MGL Kok, K Ruiters, MHJ Buys, CHCM de Leij, LFMH
Citation: Pmj. Mclaughlin et al., An EGP-2/Ep-CAM-expressing transgenic rat model to evaluate antibody-mediated immunotherapy, CANCER IMMU, 48(6), 1999, pp. 303-311
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
Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6)
Authors: Kok, K Mosselaar, A Faber, H Dijkhuizen, T Draaijers, TG Van der Veen, AY Buys, CHCM Schrander-Stumpel, CTRM
Citation: K. Kok et al., Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6), J MED GENET, 36(4), 1999, pp. 346-347
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
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
EUROGEM - Individual reports of all 23 network laboratories
Authors: Spurr, NK Cohen, D Adams, S Bakker, E Beckman, EJ Buys, CHCM Cann, HM Cassiman, JJ Contu, L Dixon, M Estivill, X Ferguson-Smith, MA Grzeschik, KH Hansmann, I Kruse, T McCarthy, T Moreno, F Moschonas, N Povey, S Roizes, G Terrenato, L Vergnaud, G Weissenbach, J Williamson, R Wright, A
Citation: Nk. Spurr et al., EUROGEM - Individual reports of all 23 network laboratories, BIOM HLTH R, 23, 1998, pp. 22-65
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis
Authors: Wu, Y Hayes, VM Osinga, J Mulder, IM Looman, MWG Buys, CHCM Hofstra, RMW
Citation: Y. Wu et al., Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis, NUCL ACID R, 26(23), 1998, pp. 5432-5440
Risultati: 1-25 | 26-36 |