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Results : 1-25/138

Decreased fecundability in Hutterite couples sharing HLA-DR.

Authors: Ober, Carole Elias, Sherman Kostyu, Donna D. Hauck, Walter W.

Journal: American journal of human genetics

Citation: Ober, Carole et al., Decreased fecundability in Hutterite couples sharing HLA-DR., American journal of human genetics , 50-I(1), 1992, pp. 6-14

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

Authors: McGinniss, M. J. Kazazian, H. H. Stetten, G. Petersen, M. B. Boman, H. Engel, E. Greenberg, F. Hertz, J. M. Johnson, A. Laca, Z. Mikkelsen, M. Patil, S. R. Schinzel, A. A. Tranebjaerg, L. Antonarakis, S. E.

Journal: American journal of human genetics

Citation: J. Mcginniss, M. et al., Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21, American journal of human genetics , 50-I(1), 1992, pp. 15-28

From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease.

Authors: Ii, Setsuko Sobell, Janet L. Sommer, Steve S.

Journal: American journal of human genetics

Citation: Ii, Setsuko et al., From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease., American journal of human genetics , 50-I(1), 1992, pp. 29-41

Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Authors: Lebo, Roger V. Lynch, Eric D. Bird, Thomas D. Golbus, Mitchell S. Barker, David F. O'Connell, Peter Chance, Phillip F.

Journal: American journal of human genetics

Citation: V. Lebo, Roger et al., Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers., American journal of human genetics , 50-I(1), 1992, pp. 42-55

Mapping of 262 DNA markers into 24 intervals on human chromosome 11.

Authors: Tanigami, Akira Tokino, Takashi Takiguchi, Shuya Mori, Masaki Glaser, Tom Park, J. W. Jones, Carol Nakamura, Yusuke

Journal: American journal of human genetics

Citation: Tanigami, Akira et al., Mapping of 262 DNA markers into 24 intervals on human chromosome 11., American journal of human genetics , 50-I(1), 1992, pp. 56-64

Isolation and mapping of 68 RFLP markers on human chromosome 6.

Authors: Saito, Susumo Okui, Keiko Tokino, Takashi Oshimura, Mitsuo Nakamura, Yusuke

Journal: American journal of human genetics

Citation: Saito, Susumo et al., Isolation and mapping of 68 RFLP markers on human chromosome 6., American journal of human genetics , 50-I(1), 1992, pp. 65-70

The gene for human erythrocyte protein 4.2 maps to chromosome 15q15.

Authors: Najfeld, V. Ballard, S. G. Menninger, J. Ward, D. C. Bouhassira, E. E. Schwartz, R. S. Nagel, R. L. Rybicki, A. C.

Journal: American journal of human genetics

Citation: V. Najfeld, et al., The gene for human erythrocyte protein 4.2 maps to chromosome 15q15., American journal of human genetics , 50-I(1), 1992, pp. 71-75

Aphidicolin-inducible common fragile-site expression: results from a population survey of twins.

Authors: Austin, M. J. F. Collins, J. M. Corey, L. A. Nance, W. E. Neale, M. C. Schieken, R. M. Brown, J. A.

Journal: American journal of human genetics

Citation: F. Austin, M. J. et al., Aphidicolin-inducible common fragile-site expression: results from a population survey of twins., American journal of human genetics , 50-I(1), 1992, pp. 76-83

The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution.

Authors: Bernhardt, Barbara A. Tumpson, Jane E. Pyeritz, Reed E.

Journal: American journal of human genetics

Citation: A. Bernhardt, Barbara et al., The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution., American journal of human genetics , 50-I(1), 1992, pp. 84-91

Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones.

Authors: Kessling, Anna Ouellette, Suzanne Bouffard, Odette Chamberland, Ann Bétard, Christine Selinger, Elzbieta Xhignesse, Marianne Lussier-Cacan, Suzanne Davignon, Jean

Journal: American journal of human genetics

Citation: Kessling, Anna et al., Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones., American journal of human genetics , 50-I(1), 1992, pp. 92-106

Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations.

Authors: Spurdle, Amanda Jenkins, Trefor

Journal: American journal of human genetics

Citation: Spurdle, Amanda et Jenkins, Trefor, Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations., American journal of human genetics , 50-I(1), 1992, pp. 107-125

Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.

Authors: Hart, P. Suzanne Hymes, Jeanne Wolf, Barry

Journal: American journal of human genetics

Citation: Hart, P. Suzanne et al., Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency., American journal of human genetics , 50-I(1), 1992, pp. 126-136

Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.

Authors: Ben-Yoseph, Y. Mitchell, D. A. Yager, R. M. Wei, J. T. Chen, T. -H. Shih, L. Y.

Journal: American journal of human genetics

Citation: Y. Ben-yoseph, et al., Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations., American journal of human genetics , 50-I(1), 1992, pp. 137-144

Caucasian genes in American blacks: new data.

Authors: Chakraborty, Ranajit Kamboh, Mohammad I. Nwankwo, M. Ferrell, Robert E.

Journal: American journal of human genetics

Citation: Chakraborty, Ranajit et al., Caucasian genes in American blacks: new data., American journal of human genetics , 50-I(1), 1992, pp. 145-155

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.

Authors: Maestrini, E. Rivella, S. Tribioli, C. Rocchi, M. Camerino, G. Santachiara-Benerecetti, S. Parolini, O. Notarangelo, L. D. Toniolo, D.

Journal: American journal of human genetics

Citation: E. Maestrini, et al., Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation., American journal of human genetics , 50-I(1), 1992, pp. 156-163

Parental origin of factor IX gene mutations, and their distribution in the gene.

Authors: Ludwig, M. Grimm, T. Brackmann, H. H. Olek, K.

Journal: American journal of human genetics

Citation: M. Ludwig, et al., Parental origin of factor IX gene mutations, and their distribution in the gene., American journal of human genetics , 50-I(1), 1992, pp. 164-173

Characterization of Robertsonian translocations by using fluorescence in situ hybridization.

Authors: Wolff, Daynna J. Schwartz, Stuart

Journal: American journal of human genetics

Citation: J. Wolff, Daynna et Schwartz, Stuart, Characterization of Robertsonian translocations by using fluorescence in situ hybridization., American journal of human genetics , 50-I(1), 1992, pp. 174-181

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Authors: Ledbetter, Susan A. Kuwano, Akira Dobyns, William B. Ledbetter, David H.

Journal: American journal of human genetics

Citation: A. Ledbetter, Susan et al., Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly., American journal of human genetics , 50-I(1), 1992, pp. 182-189

Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III.

Authors: MacDougall, Mary Zeichner-David, Margarita Murray, Jeffrey Crall, Michael Davis, Alison Slavkin, Harold

Journal: American journal of human genetics

Citation: Macdougall, Mary et al., Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III., American journal of human genetics , 50-I(1), 1992, pp. 190-194

A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.

Authors: Jacobson, Daniel R.

Journal: American journal of human genetics

Citation: R. Jacobson, Daniel, A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks., American journal of human genetics , 50-I(1), 1992, pp. 195-198

Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors: Murray, Elizabeth W. Giles, Alan R. Lillicrap, David

Journal: American journal of human genetics

Citation: W. Murray, Elizabeth et al., Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease., American journal of human genetics , 50-I(1), 1992, pp. 199-207

Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: Evidence for little recombination in the 3' end of the human gene

Authors: Dunning, Alison M. Renges, Helmut-H. Xu, Chun-Fang Peacock, Rachel Brasseur, Robert Laxer, Gerald Tikkanen, Matti J. Bütler, Réné Saha, N. Hamsten, Anders Rosseneu, Maryvonne Talmud, Philippa Humphries, Steve E.

Journal: American journal of human genetics

Citation: M. Dunning, Alison et al., Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: Evidence for little recombination in the 3' end of the human gene, American journal of human genetics , 50-I(1), 1992, pp. 208-221

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

Authors: Shoshani, Tzipora Augarten, Arie Gazit, Ephraim Bashan, Nurit Yahav, Yaakov Rivlin, Yosef Tal, Asher Seret, Hagit Yaar, Liora Kerem, Eitan Kerem, Bat-sheva

Journal: American journal of human genetics

Citation: Shoshani, Tzipora et al., Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease, American journal of human genetics , 50-I(1), 1992, pp. 222-228

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Authors: Ding, Jia-Huan Yang, Bing-Zhi Bao, Yong Roe, CharlesR. Chen, Yuan-Tsong

Journal: American journal of human genetics

Citation: Ding, Jia-huan et al., Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency., American journal of human genetics , 50-I(1), 1992, pp. 229-233

Debates, divisions, and decisions: recombinant DNA advisory committee (RAC) authorization of the first human gene transfer experiments.

Authors: Carmen, Ira H.

Journal: American journal of human genetics

Citation: H. Carmen, Ira, Debates, divisions, and decisions: recombinant DNA advisory committee (RAC) authorization of the first human gene transfer experiments., American journal of human genetics , 50-I(2), 1992, pp. 245-260

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