Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndromeFRANCKE, U ; OCHS, H. D ; WEDGWOOD, R. J ; DE MARTINVILLE, B ; GIACALONE, J ; LINDGREN, V ; DISTECHE, C ; PAGON, R. A ; HOFKER, M. H ; VAN OMMEN, G.-J. B ; PEARSON, P. LAmerican journal of human genetics, 1985-03, Vol.37 (2), p.250-267 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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2 |
Material Type: Artigo
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An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivitySAI, T ; SEINO, S ; ROSENFIELD, R. L ; SHUTSUNG LIAO ; CHAWSHANG CHANG ; TRIFIRO, M ; PINSKY, L ; MHATRE, A ; KAUFMAN, M ; LAMBERT, B ; TRAPMAN, J ; BRINKMAN, A. OAmerican journal of human genetics, 1990-06, Vol.46 (6), p.1095-1100 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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3 |
Material Type: Artigo
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Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemiaLI-SHIN HUANG ; JAÊNNE, P. A ; DE GRAAF, J ; COOPER, M ; DECKLEBAUM, R. J ; KAYDEN, H ; BRESLOW, J. LAmerican journal of human genetics, 1990-06, Vol.46 (6), p.1141-1148 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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4 |
Material Type: Artigo
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Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growthHENKE, A ; WAPENAAR, M ; VAN OMMEN, G.-J ; MARASCHIO, P ; CAMERINO, G ; RAPPOLD, GAmerican journal of human genetics, 1991-10, Vol.49 (4), p.811-819 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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5 |
Material Type: Artigo
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LINKAGE ANALYSIS OF KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AND REGIONAL ASSIGNMENT TO HUMAN-CHROMOSOME XP21.2-P22.2OOSTERWIJK, JC ; NELEN, M ; VANZANDVOORT, PM ; VANOSCH, LDM ; ORANJE, AP ; WITTEBOPOST, D ; VANOOST, BAAmerican journal of human genetics, 1992-04, Vol.50 (4), p.801-807 [Periódico revisado por pares]CHICAGO: Univ Chicago PressTexto completo disponível |
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6 |
Material Type: Artigo
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REPLACEMENT OF ARGININE-773 BY CYSTEINE OR HISTIDINE IN THE HUMAN ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY WITH DIFFERENT RECEPTOR PHENOTYPESPRIOR, L ; BORDET, S ; TRIFIRO, MA ; MHATRE, A ; KAUFMAN, M ; PINSKY, L ; WROGEMAN, K ; BELSHAM, DD ; PEREIRA, F ; GREENBERG, C ; TRAPMAN, J ; BRINKMAN, AO ; CHANG, C ; LIAO, SSAmerican journal of human genetics, 1992-07, Vol.51 (1), p.143-155 [Periódico revisado por pares]CHICAGO: Univ Chicago PressTexto completo disponível |
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7 |
Material Type: Artigo
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Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E : no cosegregation with severe hyperlipidemiaVAN DEN MAAGDENBERG, A. M. J. M ; WEI WENG ; HAVEKES, L. M ; FRANTS, R. R ; DE BRUIJN, I. H ; DE KNIJFF, P ; FUNKE, H ; SMELT, A. H. M ; LEUVEN, J. A. G ; VAN'T HOOFT, F. M ; ASSMANN, G ; HOFKER, M. HAmerican journal of human genetics, 1993-05, Vol.52 (5), p.937-946 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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8 |
Material Type: Artigo
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Linkage analysis by two-dimensional DNA typingTE MEERMAN, G. J ; MULLAART, E ; VAN DER MEULEN, M. A ; DEN DAAS, J. H. G ; MOROLLI, B ; UITTERLINDEN, A. G ; VIJG, JAmerican journal of human genetics, 1993-12, Vol.53 (6), p.1289-1297 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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9 |
Material Type: Artigo
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Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch siteRIS-STALPERS, C ; VERLEUN-MOOIJMAN, M. C. T ; DE BLAEIJ, T. J. P ; DEGENHART, H. J ; TRAPMAN, J ; BRINKMANN, A. OAmerican journal of human genetics, 1994-04, Vol.54 (4), p.609-617 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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10 |
Material Type: Artigo
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Predisposition for breast cancer in carriers of constitutional translocation 11q;22qLindblom, A ; Sandelin, K ; Iselius, L ; Dumanski, J ; White, I ; Nordenskjöld, M ; Larsson, CAmerican journal of human genetics, 1994-05, Vol.54 (5), p.871-876 [Periódico revisado por pares]United StatesTexto completo disponível |