string(238) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='1991' AND fasc_issn='00029297' order by level desc, fasc_key desc, NULLIF(regexp_replace(pagina_ini, E'\\D', '', 'g'), '')::int asc offset 50 limit 25" ACNP - Italian Periodicals Catalogue
Results: 1-25 | 26-50 | 51-75 | 76-100 | >>    

Articles table of contents

Results : 51-75/268
Two frameshift mutations in the cystic fibrosis gene
Authors: Iannuzzi, Michael C. Stern, Robert C. Collins, Francis S. Tom Hon, Catherine Hidaka, Noriko Strong, Theresa Becker, Lisa Drumm, Mitchell L. White, Marga B. Gerrard, Bernard Dean, Michael
Journal: American journal of human genetics
Citation: C. Iannuzzi, Michael et al., Two frameshift mutations in the cystic fibrosis gene, American journal of human genetics , 48-I(2), 1991, pp. 227-231
Genetic analysis of breast cancer in the cancer and steroid hormone study.
Authors: Claus, Elizabeth B. Risch, Neil Thompson, W. Douglas
Journal: American journal of human genetics
Citation: B. Claus, Elizabeth et al., Genetic analysis of breast cancer in the cancer and steroid hormone study., American journal of human genetics , 48-I(2), 1991, pp. 232-242
High-resolution linkage mapping for susceptibility genes in human polygenic disease: Insulin-dependent diabetes mellitus and chromosome 11q
Authors: Hyer, R.N. Julier, C. Buckley, J.D. Trucco, M. Rotter, J. Spielman, R. Barnett, A. Bain, S. Boitard, C. Deschamps, I. Todd, J. A. Bell, J. I. Lathrop, G. M.
Journal: American journal of human genetics
Citation: Hyer, R.n et al., High-resolution linkage mapping for susceptibility genes in human polygenic disease: Insulin-dependent diabetes mellitus and chromosome 11q, American journal of human genetics , 48-I(2), 1991, pp. 243-257
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.
Authors: Hassold, Terry J. Sherman, Stephanie L. Pettay, Dorothy Page, David C. Jacobs, Patricia A.
Journal: American journal of human genetics
Citation: J. Hassold, Terry et al., XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region., American journal of human genetics , 49-I(2), 1991, pp. 253-260
Isolation and mapping of 62 new RFLP markers on human chromosome 11.
Authors: Tokino, Takashi Takahashi, Ei-ichi Mori, Masaki Tanigami, Akira Glaser, Tom Park, J.W. Jones, Carol Hori, Tada-aki Nakamura, Yusuke
Journal: American journal of human genetics
Citation: Tokino, Takashi et al., Isolation and mapping of 62 new RFLP markers on human chromosome 11., American journal of human genetics , 48-I(2), 1991, pp. 258-268
A multipoint linkage map of the distal short arm of the human X chromosome.
Authors: Johnson, Carey L. Charmley, Patrick Yen, Pauline H. Shapiro, Larry J.
Journal: American journal of human genetics
Citation: L. Johnson, Carey et al., A multipoint linkage map of the distal short arm of the human X chromosome., American journal of human genetics , 49-I(2), 1991, pp. 261-266
Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).
Authors: Nicklas, Janice A. Hunter, Timothy C. O'Neill, J. Patrick Albertini, Richard J.
Journal: American journal of human genetics
Citation: A. Nicklas, Janice et al., Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26)., American journal of human genetics , 49-I(2), 1991, pp. 267-278
Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization.
Authors: Suijkerbuijk, R. F. van de Veen, A. Y. van Echten, J. Buys, C. H. C. M. de Jong, B. Oosterhuis, J. W. Warburton, D. A. Cassiman, J. J. Schonk, D. van Kessel, A. Geurts
Journal: American journal of human genetics
Citation: F. Suijkerbuijk, R. et al., Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization., American journal of human genetics , 48-I(2), 1991, pp. 269-273
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
Authors: Dixon, Haan, Baker, David, McKenzie, Williamson, Mulley, Farrall, Callen,
Journal: American journal of human genetics
Citation: Dixon, et al., Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions., American journal of human genetics , 48-I(2), 1991, pp. 274-280
Neuroanatomy in fragile X females: the posterior fossa.
Authors: Reiss, Allan L. Freund, Lisa Tseng, Jennifer E. Joshi, Paramjit K.
Journal: American journal of human genetics
Citation: L. Reiss, Allan et al., Neuroanatomy in fragile X females: the posterior fossa., American journal of human genetics , 49-I(2), 1991, pp. 279-288
Progress in the search for genetic linkage with Tourette syndrome: An exclusion map covering more than 50% of the autosomal genome
Authors: Pakstis, Andrew J. Heutink, Peter Pauls, David L. Kurlan, Roger van de Wetering, Ben J. M. Leckman, James F. Sandkuyl, Lodewijk A. Kidd, Judith R. Breedveld, Guido J. Castiglione, Carmela M. Weber, James Sparkes, Robert S. Cohen, Donald J. Kidd, Kenneth K. Oostra, Ben A.
Journal: American journal of human genetics
Citation: J. Pakstis, Andrew et al., Progress in the search for genetic linkage with Tourette syndrome: An exclusion map covering more than 50% of the autosomal genome, American journal of human genetics , 48-I(2), 1991, pp. 281-294
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Authors: Clarke, J. T. R. Greer, W. L. Strasberg, P. M. Pearce, R. D. Skomorowski, M. A. Ray, P. N.
Journal: American journal of human genetics
Citation: R. Clarke, J. T. et al., Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl., American journal of human genetics , 49-I(2), 1991, pp. 289-297
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.
Authors: Bulman, Dennis E. Murphy, E.Gordon Zubrzycka-Gaarn, Elizabeth E. Worton, Ronald G. Ray, Peter N.
Journal: American journal of human genetics
Citation: E. Bulman, Dennis et al., Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin., American journal of human genetics , 48-I(2), 1991, pp. 295-304
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
Authors: Roberts, Roland G. Barby, Teresa F. M. Manners, Elizabeth Bobrow, Martin Bentley, David R.
Journal: American journal of human genetics
Citation: G. Roberts, Roland et al., Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes., American journal of human genetics , 49-I(2), 1991, pp. 298-310
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
Authors: Vasan, Nagaswami S. Kuivaniemi, Helena Vogel, Bruce E. Minor, Ronald R. Wootton, Joyce A. M. Tromp, Gerard Weksberg, Rosanna Prockop, Darwin J.
Journal: American journal of human genetics
Citation: S. Vasan, Nagaswami et al., A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype., American journal of human genetics , 48-I(2), 1991, pp. 305-317
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
Authors: Oudet, Claudine Heilig, Roland Hanauer, André Mandel, Jean-Louis
Journal: American journal of human genetics
Citation: Oudet, Claudine et al., Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination., American journal of human genetics , 49-I(2), 1991, pp. 311-319
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
Authors: Spritz, Richard A. Strunk, Kathleen M. Hsieh, Chih-Lin Sekhon, Gurbax S. Francke, Uta
Journal: American journal of human genetics
Citation: A. Spritz, Richard et al., Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism., American journal of human genetics , 48-I(2), 1991, pp. 318-324
Genomic structure of the human prion protein gene.
Authors: Puckett, Carmie Concannon, Patrick Casey, Chris Hood, Leroy
Journal: American journal of human genetics
Citation: Puckett, Carmie et al., Genomic structure of the human prion protein gene., American journal of human genetics , 49-I(2), 1991, pp. 320-329
Saturating the region of the polycystic kidney disease gene with NotI linking clones.
Authors: Himmelbauer, Heinz Germino, Greg G. Ceccherini, Isabella Romeo, Giovanni Reeders, Stephen T. Frischauf, Anna-Maria
Journal: American journal of human genetics
Citation: Himmelbauer, Heinz et al., Saturating the region of the polycystic kidney disease gene with NotI linking clones., American journal of human genetics , 48-I(2), 1991, pp. 325-334
Localization of the gene encoding the GABAA receptor .3 subunit to the Angelman/Prader-Willi region of human chromosome 15
Authors: Wagstaff, J. Knoll, J. H. M. Fleming, J. Kirkness, E. F. Martin-Gallardo, A. Greenberg, F, Graham, J. M. Jr Menninger, J. Ward, D. Venter, J. C. Lalande, M.
Journal: American journal of human genetics
Citation: J. Wagstaff, et al., Localization of the gene encoding the GABAA receptor .3 subunit to the Angelman/Prader-Willi region of human chromosome 15, American journal of human genetics , 49-I(2), 1991, pp. 330-337
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
Authors: Raskind, Wendy H. Wijsman, Ellen Pagon, Roberta A. Cox, Timothy C. Bawden, Michael J. May, Brian K. Bird, Thomas D.
Journal: American journal of human genetics
Citation: H. Raskind, Wendy et al., X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13., American journal of human genetics , 48-I(2), 1991, pp. 335-341
The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations.
Authors: Hallman, D. Michael Boerwinkle, Eric Saha, Nilmani Sandholzer, Christoph Menzel, Hans JurgenHans Jurgen Csázár, Albert Utermann, Gerd
Journal: American journal of human genetics
Citation: Hallman, D. Michael et al., The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations., American journal of human genetics , 49-I(2), 1991, pp. 338-349
Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1.
Authors: Herring, W. Joseph Litwer, Stuart Weber, James L. Danner, Dean J.
Journal: American journal of human genetics
Citation: Herring, W. Joseph et al., Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1., American journal of human genetics , 48-I(2), 1991, pp. 342-350
Estimation of Hardy-Weinberg and pairwise disequilibrium in the apolipoprotein AI-CIII-AIV gene cluster.
Authors: Haviland, M. B. Kessling, A. M. Davignon, J. Sing, C. F.
Journal: American journal of human genetics
Citation: B. Haviland, M. et al., Estimation of Hardy-Weinberg and pairwise disequilibrium in the apolipoprotein AI-CIII-AIV gene cluster., American journal of human genetics , 49-I(2), 1991, pp. 350-365
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.
Authors: Koyata, Hirohisa Hiraga, Koichi
Journal: American journal of human genetics
Citation: Koyata, Hirohisa et Hiraga, Koichi, The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias., American journal of human genetics , 48-I(2), 1991, pp. 351-361
Results: 1-25 | 26-50 | 51-75 | 76-100 | >>