Search Results - "Buys, C"

Namibian spitting cobra, Naja nigricincta nigricincta : Oral flora and antibiotic sensitivity, a cross-sectional study by Saaiman, E, Buys, C, Theart, F

“…This was a cross-sectional study with the aim of characterising Naja nigricincta nigricincta's oral bacterial flora as well as accompanying sensitivities and…”
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Namibian spitting cobra, Naja nigricincta nigricincta (Zebra snake): Antibiotic profile of bacteria cultured from the oral pharynx, venom and snakebite wounds by Saaiman, E, Buys, C, Theart, F

“…This was a cross-sectional study with the aim of characterising Naja nigricincta nigricincta’s oral bacterial flora as well as accompanying sensitivities and…”
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Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer by Niessen, R C, Berends, M J W, Wu, Y, Sijmons, R H, Hollema, H, Ligtenberg, M J L, de Walle, H E K, de Vries, E G E, Karrenbeld, A, Buys, C H C M, van der Zee, A G J, Hofstra, R M W, Kleibeuker, J H

“…Background: Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC)…”
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Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients by Westra, J. L., Hollema, H., Schaapveld, M., Platteel, I., Oien, K. A., Keith, W. N., Mauritz, R., Peters, G. J., Buys, C. H. C. M., Hofstra, R. M. W., Plukker, J. Th. M.

“…Background: The predictive value of thymidylate synthase (TS) and dihydropyrimidine dehydrogenase (DPD) expression on long-term survival by influencing…”
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Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations by Wu, Ying, Berends, Maran J.W., Mensink, Rob G.J., Kempinga, Claudia, Sijmons, Rolf H., van der Zee, Ate G.J., Hollema, Harry, Kleibeuker, Jan H., Buys, Charles H.C.M., Hofstra, Robert M.W.

“…Hereditary nonpolyposis colorectal cancer (HNPCC) (Amsterdam criteria) is often caused by mutations in mismatch repair (MMR) genes, and tumors of patients with…”
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A Human Model for Multigenic Inheritance: Phenotypic Expression in Hirschsprung Disease Requires Both the RET Gene and a New 9q31 Locus by Bolk, Stacey, Pelet, Anna, Robert M. W. Hofstra, Angrist, Misha, Salomon, Remi, Croaker, David, Charles H. C. M. Buys, Lyonnet, Stanislas, Chakravarti, Aravinda

“…Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR)…”
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In Vitro Fertilization with Preimplantation Genetic Screening by Mastenbroek, Sebastiaan, Twisk, Moniek, van Echten-Arends, Jannie, Sikkema-Raddatz, Birgit, Korevaar, Johanna C, Verhoeve, Harold R, Vogel, Niels E.A, Arts, Eus G.J.M, de Vries, Jan W.A, Bossuyt, Patrick M, Buys, Charles H.C.M, Heineman, Maas Jan, Repping, Sjoerd, van der Veen, Fulco

“…It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve pregnancy rates in women of…”
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Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy by COBBEN, J. M, VAN DER STEEGE, G, GROOTSCHOLTEN, P, DE VISSER, M, SCHEFFER, H, BUYS, C. H. C. M

“…DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of…”
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A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma by Hofstra, Robert M. W, Landsvater, Rudy M, Ceccherini, Isabella, Stulp, Rein P, Stelwagen, Tineke, Luo, Yin, Pasini, Barbara, Hoppener, Jo W. M, van Amstel, Hans Kristian Ploos, Romeo, Giovanni, Lips, Cornells J. M, Buys, Charles H. C. M

“…Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary…”
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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease by Angrist, M, Bolk, S, Thiel, B, Puffenberger, E G, Hofstra, R M, Buys, C H, Cass, D T, Chakravarti, A

“…Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live…”
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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy by van der Steege, G, Grootscholten, P M, van der Vlies, P, Draaijers, T G, Osinga, J, Cobben, J M, Scheffer, H, Buys, C H

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) by Hofstra, Robert M.W, Osinga, Jan, Tan-Sindhunata, Gita, Wu, Ying, Kamsteeg, Erik-J, Stulp, Rein P, Ravenswaaij-Arts, Conny van, Majoor-Krakauer, Daniëlle, Angrist, Misha, Chakravarti, Aravinda, Meijers, Carel, Buys, Charles H.C.M

“…Hirschsprung disease (HSCR) or colonic aganglionosis is a congenital disorder characterized by an absence of intramural ganglia along variable lengths of the…”
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A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction by Hofstra, Robert M.W., Valdenaire, Olivier, Arch, Ellen, Osinga, Jan, Kroes, Hester, Löffler, Bernd-Michael, Hamosh, Ada, Meijers, Carel, Buys, Charles H.C.M.

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Equipping Nurse Practitioner Students With Social Determinants of Health Competencies by Mays, Lauren C, Bristow, Alice S, Baucom, Melanie P, Bowers, Deborah A, Patton, Emily M, Buys, Katie C

“…Social determinants of health (SDOH) cause significant burden on individuals living with acute and chronic disease. There are meaningful data to support…”
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Oncological implications of RET gene mutations in Hirschsprung’s disease by Sijmons, R H, Hofstra, R M W, Wijburg, F A, Links, T P, Zwierstra, R P, Vermey, A, Aronson, D C, Tan-Sindhunata, G, Brouwers-Smalbraak, G J, Maas, S M, Buys, C H C M

“…Background—Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A…”
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DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer by Nyström-Lahti, Minna, Wu, Ying, Moisio, Anu-Liisa, Hofstra, Robert M. W., Osinga, Jan, Mecklin, Jukka-Pekka, Järvinen, Heikki J., Leisti, Jaakko, Buys, Charles H. C. M., de la Chapelle, Albert, Peltomäki, Päivi

“…The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for…”
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Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification by van den Berg, E, van der Hout, A H, Oosterhuis, J W, Störkel, S, Dijkhuizen, T, Dam, A, Zweers, H M, Mensink, H J, Buys, C H, de Jong, B

“…Renal-cell carcinomas (RCC) are clinically, histologically and cytogenetically very heterogeneous. The present histological WHO classification shows no clear…”
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Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer by Bleeker, W A, Hayes, V M, Karrenbeld, A, Hofstra, R M, Verlind, E, Hermans, J, Poppema, S, Buys, C H, Plukker, J T

“…Mutations in K-ras and TP53 genes are common in colorectal cancer. They affect biologic behavior and might influence chemotherapy susceptibility in these…”
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Namibian spitting cobra, Naja nigricincta nigricincta by Theart, F, Buys, C, Saaiman, E

“…This was a cross-sectional study with the aim of characterising Naja nigricincta nigricincta's oral bacterial flora as well as accompanying sensitivities and…”
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MUTYH and the mismatch repair system : partners in crime? by NIESSEN, Renée C, SIJMONS, Rolf H, DE BOCK, Geertruida H, BUYS, Charles H. C. M, KLEIBEUKER, Jan H, HOFSTRA, Robert M. W, OU, J, OLTHOF, Sandra G. M, OSINGA, Jan, LIGTENBERG, Marjolijn J, HOGERVORST, Frans B. L, WEISS, Marjan M, TOPS, Carli M. J, HES, Frederik J

“…Biallelic germline mutations of MUTYH-a gene encoding a base excision repair protein-are associated with an increased susceptibility of colorectal cancer…”
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