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Results : 101-125/138

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.

Authors: Longo, Nicola Langley, Sharon D. Griffin, Lorri D. Elsas, Louis J.

Journal: American journal of human genetics

Citation: Longo, Nicola et al., Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance., American journal of human genetics , 50-II(5), 1992, pp. 998-1007

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Authors: Vilain, Eric McElreavey, Ken Jaubert, Fransois Raymond, Jean-Paul Richaud, Fransois Fellous, Marc

Journal: American journal of human genetics

Citation: Vilain, Eric et al., Familial case with sequence variant in the testis-determining region associated with two sex phenotypes., American journal of human genetics , 50-II(5), 1992, pp. 1008-1011

Multipoint linkage analysis in Menkes disease.

Authors: Tønnesen, T. Petterson, A. Kruse, T. A. Gerdes, A. -M. Horn, N.

Journal: American journal of human genetics

Citation: T. Tønnesen, et al., Multipoint linkage analysis in Menkes disease., American journal of human genetics , 50-II(5), 1992, pp. 1012-1017

Investigation of the mode of inheritance of insulin-dependent diabetes mellitus in Japanese subjects.

Authors: Jenkins, David Penny, Michelle A. Uchigata, Yasuko Jacobs, Karen H. Mijovic, Catherine H. Hirata, Yukimasa Otani, Toshika Fletcher, Jeremy Bradwell, Arthur R. Barnett, Anthony H.

Journal: American journal of human genetics

Citation: Jenkins, David et al., Investigation of the mode of inheritance of insulin-dependent diabetes mellitus in Japanese subjects., American journal of human genetics , 50-II(5), 1992, pp. 1018-1021

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Authors: Granell, Reyes Solera, Jesùs Carrasco, Sira Molano, Jesùs

Journal: American journal of human genetics

Citation: Granell, Reyes et al., Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene., American journal of human genetics , 50-II(5), 1992, pp. 1022-1026

A new transthyretin mutation associated with amyloid cardiomyopathy.

Authors: Saraiva, Maria Joao Mascarenhas do Rosario Almeida, Maria Sherman, William Gawinowicz, MaryAnn Costa, Paulo Costa, Pedro Pinho Goodman, DeWitt S.

Journal: American journal of human genetics

Citation: Saraiva, Maria Joao Mascarenhas et al., A new transthyretin mutation associated with amyloid cardiomyopathy., American journal of human genetics , 50-II(5), 1992, pp. 1027-1030

Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification.

Authors: Spielvogel, Helmut Hennies, Hans-Christian Claussen, Uwe Washington, Sarah S. Chakravarti, Aravinda Reis, André

Journal: American journal of human genetics

Citation: Spielvogel, Helmut et al., Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification., American journal of human genetics , 50-II(5), 1992, pp. 1031-1037

Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.

Authors: Coresh, Josef Beaty, Terri H. Kwiterovich, Peter O. Jr Antonarakis, Stylianos E.

Journal: American journal of human genetics

Citation: Coresh, Josef et al., Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels., American journal of human genetics , 50-II(5), 1992, pp. 1038-1045

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

Authors: Xie, Bei Wang, Wei Mahuran, Don J.

Journal: American journal of human genetics

Citation: Xie, Bei et al., A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis., American journal of human genetics , 50-II(5), 1992, pp. 1046-1052

Sensitivity of lod scores to changes in diagnostic status.

Authors: Hodge, Susan E. Greenberg, David A.

Journal: American journal of human genetics

Citation: E. Hodge, Susan et A. Greenberg, David, Sensitivity of lod scores to changes in diagnostic status., American journal of human genetics , 50-II(5), 1992, pp. 1053-1066

Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families.

Authors: Loesch, Danuta Z. Huggins, Richard M.

Journal: American journal of human genetics

Citation: Z. Loesch, Danuta et M. Huggins, Richard, Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families., American journal of human genetics , 50-II(5), 1992, pp. 1067-1076

Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families.

Authors: Wertz, Dorothy C. Janes, Sally R. Rosenfield, Janet M. Erbe, Richard W.

Journal: American journal of human genetics

Citation: C. Wertz, Dorothy et al., Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families., American journal of human genetics , 50-II(5), 1992, pp. 1077-1085

DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

Authors: Bartels, C. F. Jensen, F. S. Lockridge, O. van der Spek, A. F. L. Rubinstein, M. H. Lubrano, T. La Du, B. N.

Journal: American journal of human genetics

Citation: F. Bartels, C. et al., DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites., American journal of human genetics , 50-II(5), 1992, pp. 1086-1103

DNA mutations associated with the human butyrylcholinesterase J-variant.

Authors: Bartels, C. F. James, K. La Du, B. N.

Journal: American journal of human genetics

Citation: F. Bartels, C. et al., DNA mutations associated with the human butyrylcholinesterase J-variant., American journal of human genetics , 50-II(5), 1992, pp. 1104-1114

Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population.

Authors: von Eckardstein, Arnold Funke, Harald Schulte, Manfred Erren, Michael Schulte, Helmut Assmann, Gerd

Journal: American journal of human genetics

Citation: Von Eckardstein, Arnold et al., Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population., American journal of human genetics , 50-II(5), 1992, pp. 1115-1128

The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.

Authors: Gorski, S. M. Adams, K. J. Birch, P. H. Friedman, J. M. Goodfellow, P. J.

Journal: American journal of human genetics

Citation: M. Gorski, S. et al., The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1., American journal of human genetics , 50-II(5), 1992, pp. 1129-1136

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Authors: Deufel, T. Golla, A. Iles, D. Meindl, A. Meitinger, T. Schindelhauer, D. DeVries, A. Pongratz, D. MacLennan, D. H. Johnson, K. J. Lehmann-Horn, F.

Journal: American journal of human genetics

Citation: T. Deufel, et al., Evidence for genetic heterogeneity of malignant hyperthermia susceptibility, American journal of human genetics , 50-II(6), 1992, pp. 1151-1161

Sex-chromosome pairing: evidence that the behavior of the pseudoautosomal region differs during male and female meiosis.

Authors: Hunt, Patricia A LeMaire, Renée

Journal: American journal of human genetics

Citation: A. Hunt, Patricia et Lemaire, Renée, Sex-chromosome pairing: evidence that the behavior of the pseudoautosomal region differs during male and female meiosis., American journal of human genetics , 50-II(6), 1992, pp. 1162-1170

Epigene conversion: a proposal with implications for gene mapping in humans.

Authors: Sabl, Joy F. Laird, Charles D.

Journal: American journal of human genetics

Citation: F. Sabl, Joy et D. Laird, Charles, Epigene conversion: a proposal with implications for gene mapping in humans., American journal of human genetics , 50-II(6), 1992, pp. 1171-1177

Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors: Kristidis, Peter Bozon, Dominique Corey, Mary Markiewicz, Danuta Rommens, Johanna Tsui, Lap-Chee Durie, Peter

Journal: American journal of human genetics

Citation: Kristidis, Peter et al., Genetic determination of exocrine pancreatic function in cystic fibrosis., American journal of human genetics , 50-II(6), 1992, pp. 1178-1184

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Authors: Cutting, Garry R. Curristin, Sheila M. Nash, Elizabeth Rosenstein, Beryl J. Lerer, Israela Abeliovich, Dvorah Hill, Alison Graham, Colin

Journal: American journal of human genetics

Citation: R. Cutting, Garry et al., Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians., American journal of human genetics , 50-II(6), 1992, pp. 1185-1194

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

Authors: van den Hurk, J. A. J. M. van de Pol, T. J. R. Molloy, C. M. Brunsmann, F. Rüther, K. Zrenner, E. Pinckers, A. J. L. G. Pawlowitzki, I. H. Bleeker-Wagemakers, E. M. Wieringa, B. Ropers, H.-H. Cremers, F. P. M.

Journal: American journal of human genetics

Citation: M. Van Den Hurk, J. A. J. et al., Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing, American journal of human genetics , 50-II(6), 1992, pp. 1195-1202

A molecular defect in human protoporphyria.

Authors: Brenner, D. A. Didier, J. M. Frasier, F. Christensen, S. R. Evans, G. A. Dailey, H. A.

Journal: American journal of human genetics

Citation: A. Brenner, D. et al., A molecular defect in human protoporphyria., American journal of human genetics , 50-II(6), 1992, pp. 1203-1210

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q

Authors: Speer, Marcy C. Yamaoka, Larry H. Gilchrist, James H. Gaskell, C. P. Stajich, Jeffrey M. Vance, Jeffery M. Kazantsev, Alexey Lastra, Anselmo A. Haynes, Carol S. Beckmann, Jacques S. Cohen, Daniel Weber, James L. Roses, Allen D. Pericak-Vance, Margaret A.

Journal: American journal of human genetics

Citation: C. Speer, Marcy et al., Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q, American journal of human genetics , 50-II(6), 1992, pp. 1211-1217

Recombination of 4p16 DNA markers in an unusual family with Huntington disease

Authors: Pritchard, Catrin Zhu, Ning Zuo, Jian Bull, Laura Pericak-Vance, Margaret A. Vance, Jeffery M. Roses, Allen D. Milatovich, Athena Francke, Uta Cox, David R. Myers, Richard M.

Journal: American journal of human genetics

Citation: Pritchard, Catrin et al., Recombination of 4p16 DNA markers in an unusual family with Huntington disease, American journal of human genetics , 50-II(6), 1992, pp. 1218-1230

Results: << | 101-125 | 126-138