檢索結果 - Breuning, M

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. 由 Taschner, P E, de Vos, N, Breuning, M H

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XmnI, HincII and BclI RFLPs at D16S79. 由 Gedeon, A K, Mulley, J C, Breuning, M H

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An Artificial Cofactor Catalyzing the Baylis‐Hillman Reaction with Designed Streptavidin as Protein Host 由 Lechner, Horst, Emann, Vincent R., Breuning, M., Höcker, Birte

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Exclusion of BBC1 and CMAR as candidate breast tumour-suppressor genes. 由 Moerland, E., Breuning, M. H., Cornelisse, C. J., Cleton-Jansen, A. M.

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Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins? 由 Giles, R H, Dauwerse, H G, van Ommen, G J, Breuning, M H

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An alternative to FISH: detecting deletion and duplication carriers within 24 hours 由 White, S, Sterrenburg, E, van Ommen, G-J B, den Dunnen, J T, Breuning, M

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Cosmid vector pCpG and plasmid vector pKNUN1, and their use for cloning DNA sequences adjacent to sites for rare cutting restriction endonucleases. 由 Dauwerse, H G, van Ommen, G B, Breuning, M H, Pearson, P L

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Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect 由 Dauwerse, J, de Die-Smulders, C E M, Bakker, E, Breuning, M, Peters, D

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Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands. 由 Gillespie, G A, Germino, G G, Somlo, S, Weinstat-Saslow, D, Breuning, M H, Reeders, S T

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An anonymous single copy chromosome 22 clone, D22S10 (22c1-18) identifies an RFLP with PstI. 由 Hofker, M H, Breuning, M H, Bakker, E, van Ommen, G J, Pearson, P L

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

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RFLP for an anonymous single copy clone at 16pter-16p13.1 [D16S127] 由 Breuning, M H, Dauwerse, J G, Saris, J J, van Ommen, G J, Pearson, P L

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Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16 由 Snijdewint, F.G.M., Saris, J.J., Dauwerse, J.G., Breuning, M.H., Van Ommen, G.J.B.

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Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome 由 Dauwerse, J, Bouman, K, van Essen, A J, van der Hout, A H, Kolsters, G, Breuning, M, Peters, D

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Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms 由 Muncke, N, Wogatzky, B, Breuning, M, Sistermans, E, Endris, V, Ross, M, Vetrie, D, Catsman-Berrevoet..., C, Rappold, G

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Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene. 由 Breuning, M H, Snijdewint, F G, Dauwerse, J G, Saris, J J, Bakker, E, Pearson, P L, vanOmmen, G J

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A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16 由 Breuning, M.H., Snijdewint, F.G.M., Smits, J.R., Dauwerse, J.G., Saris, J.J., Van Ommen, G.J.B.

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Mutation detection in the repeated part of the PKD1 gene. 由 Roelfsema, J H, Spruit, L, Saris, J J, Chang, P, Pirson, Y, van Ommen, G J, Peters, D J, Breuning, M H

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New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles 由 MAAT-KIEVIT, A., LOSEKOOT, M., DEN BERG, H. V. D. B.-V., VAN OMMEN, G.-J., NIERMEIJER, M., BREUNING, M., TIBBEN, A.

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Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. 由 Reeders, S T, Breuning, M H, Corney, G, Jeremiah, S J, Meera Khan, P, Davies, K E, Hopkinson, D A, Pearson, P L, Weatherall, D J

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