Výsledky vyhledávání - BUYS, C

An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11]. Autor Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

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A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12] Autor Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

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A Hirschsprung disease locus at 22q11? Autor Kerstjens-Frederi..., W, Hofstra, R, van Essen, A J, Meijers, J, Buys, C

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The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2. Autor Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

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The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI. Autor Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

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Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. Autor Wu, Y, Stulp, R P, Elfferich, P, Osinga, J, Buys, C H, Hofstra, R M

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Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense Autor SCHEFFER, H, VAN DER VLIES, P, BURTON, M, VERLIND, E, MOLL, A, IMHOF, S, BUYS, C

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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) Autor Brooks, A., Breuning, M., Osinga, J., Smagt, J., Catsman, C., Buys, C., Meijers, C., Hofstra, R.

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A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22]. Autor Bowcock, A M, Scheffer, H, Hebert, J M, van den Berg, J H, Buys, C H

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Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Autor Cobben, J M, van der Steege, G, Grootscholten, P, de Visser, M, Scheffer, H, Buys, C H

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A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. Autor Kok, K, Hofstra, R, Pilz, A, van den Berg, A, Terpstra, P, Buys, C H, Carritt, B

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Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) Autor KOK, K, MOSSELAAR, A, FABER, H, DIJKHUIZEN, T, DRAAIJERS, T, VAN DER VEEN, A Y, BUYS, C, SCHRANDER-STUMPEL, C

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A new RFLP identified at the D3S48 locus Autor Kok, K., Fan, M.-Z., Jonas, A., Van Den Berg, A, Carritt, B., Buys, C.H.C.M.

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Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Autor Wu, Y, Hayes, V M, Osinga, J, Mulder, I M, Looman, M W, Buys, C H, Hofstra, R M

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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. Autor Hofstra, R M, Valdenaire, O, Arch, E, Osinga, J, Kroes, H, Löffler, B M, Hamosh, A, Meijers, C, Buys, C H

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BclI RFLP for the human vimentin gene. Autor Marcus, E M, Smith, B A, Telenius, H, Landsvater, R M, Buys, C H, Ferrari, S, Ponder, B A, Mathew, C G

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Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis. Autor Hayes, V M, Wu, Y, Osinga, J, Mulder, I M, van der Vlies, P, Elfferich, P, Buys, C H, Hofstra, R M

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Oncological implications of RET gene mutations in Hirschsprung's disease Autor Sijmons, R, Hofstra, R, Wijburg, F, Links, T, Zwierstra, R, Vermey, A, Aronson, D, Tan-Sindhunata, G, Brouwers-Smalbraa..., G, Maas, S, Buys, C

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Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? Autor Hofstra, R, Elfferich, P, Osinga, J, Verlind, E, Fransen, E, Lopez, P, de Die-Smulders, C E M, Stolte-Dijkstra, I, Buys, C

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Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I. Autor Cobben, J M, de Visser, M, Scheffer, H, Osinga, J, van der Steege, G, Buys, C H, van Ommen, G J, ten Kate, L P

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