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Results : 1-25/117

The natural history of homocystinuria due to cystathionine beta-synthase deficiency

Authors: Mudd, S. H. , Skovby, F. , Levy, H. L. , Pettigrew, K. D. , Wilcken, B. , Pyerit

Journal: American journal of human genetics

Citation: Mudd, S. H. , Skovby, F. , Levy, H. L. , Pettigrew, K. D. , Wilcken, B. , Pyerit, The natural history of homocystinuria due to cystathionine beta-synthase deficiency, American journal of human genetics , 37(1), 1985, pp. 1-31

Hereditary Thrombosis in a Utah Kindred Is Caused by a Dysfunctional Anti- thrombin III Gene

Authors: Bock, S. C. , Harris, J. F. , Schwartz, C. E. , Ward, J. H. , Hershgold, E. J. ,

Journal: American journal of human genetics

Citation: Bock, S. C. , Harris, J. F. , Schwartz, C. E. , Ward, J. H. , Hershgold, E. J. ,, Hereditary Thrombosis in a Utah Kindred Is Caused by a Dysfunctional Anti- thrombin III Gene, American journal of human genetics , 37(1), 1985, pp. 32-41

Discrimination among the Human ß^A, B^S, and BC-Globin Genes Using Allele-Specific Oligonucleotide Hybridization Probes

Authors: Studencki, A. B. , Conner, B. J. , Impraim, C. C. , Teplitz, R. L. and Wallace,

Journal: American journal of human genetics

Citation: . Studencki, A. B. , Conner, B. J. , Impraim, C. C. , Teplitz, R. L. And Wallace,, Discrimination among the Human ß^A, B^S, and BC-Globin Genes Using Allele-Specific Oligonucleotide Hybridization Probes, American journal of human genetics , 37(1), 1985, pp. 42-51

A Discordant Sibship Analysis between ß-NGF and Neurofibromatosis

Authors: Darby, J. K. , Feder, J. , Selby, M. , Riccardi, V. , Ferrell, R. , Siao, D. , G

Journal: American journal of human genetics

Citation: G. Darby, J. K. , Feder, J. , Selby, M. , Riccardi, V. , Ferrell, R. , Siao, D. ,, A Discordant Sibship Analysis between ß-NGF and Neurofibromatosis, American journal of human genetics , 37(1), 1985, pp. 52-59

The Use of Multiple Restriction Fragment Length Polymorphisms in Prenatal Risk Estimation. I. X-Linked Diseases

Authors: Clark, A. G.

Journal: American journal of human genetics

Citation: G. Clark, A., The Use of Multiple Restriction Fragment Length Polymorphisms in Prenatal Risk Estimation. I. X-Linked Diseases, American journal of human genetics , 37(1), 1985, pp. 60-72

Leprechaunism: An Inherited Defect in a High-Affinity Insulin Receptor.

Authors: Elsas, L. J. , Endo, F. , Strumlauf, E. , Elders, J. and Priest, J. H.

Journal: American journal of human genetics

Citation: H. Elsas, L. J. , Endo, F. , Strumlauf, E. , Elders, J. And Priest, J., Leprechaunism: An Inherited Defect in a High-Affinity Insulin Receptor., American journal of human genetics , 37(1), 1985, pp. 73-88

Factor VIII and Factor IX in a Twin Population. Evidence for a Major Effect of ABO Locus on Factor VIII Level.

Authors: Orstavik, K. H. , Magnus, P. , Reisner, H. , Berg, K. , Graham, J. B. and Nance,

Journal: American journal of human genetics

Citation: Orstavik, K. H. , Magnus, P. , Reisner, H. , Berg, K. , Graham, J. B. And Nance,, Factor VIII and Factor IX in a Twin Population. Evidence for a Major Effect of ABO Locus on Factor VIII Level., American journal of human genetics , 37(1), 1985, pp. 89-101

Detection of Genetic Heterogeneity between Families of Insulin-Dependent Diabetes Mellitus Patients Using Linkage Analysis.

Authors: Harris, E. L. , Wagener, D. K. , Dorman, J. S. and Drash, A. L.

Journal: American journal of human genetics

Citation: L. Harris, E. L. , Wagener, D. K. , Dorman, J. S. And Drash, A., Detection of Genetic Heterogeneity between Families of Insulin-Dependent Diabetes Mellitus Patients Using Linkage Analysis., American journal of human genetics , 37(1), 1985, pp. 102-113

Chromosomal Localization of Several Families of Repetitive Sequences by in Situ Hybridization.

Authors: Devine, E. A. , Nolin, S. L. , Houck, G. E. Jr., Jenkins, E. C. , and Brown, W.

Journal: American journal of human genetics

Citation: . Devine, E. A. , Nolin, S. L. , Houck, G. E. Jr., Jenkins, E. C. , And Brown, W., Chromosomal Localization of Several Families of Repetitive Sequences by in Situ Hybridization., American journal of human genetics , 37(1), 1985, pp. 114-123

HLA-B18 I Associated with Decreased Levels of Isoproterenol-Stimulated cAMP in Lymphocytes.

Authors: Erickson, R. P. , Pairitz, G. L. , Karolyi, J. M. , Kapur, J. J. , Odenheimer, D

Journal: American journal of human genetics

Citation: D. Erickson, R. P. , Pairitz, G. L. , Karolyi, J. M. , Kapur, J. J. , Odenheimer,, HLA-B18 I Associated with Decreased Levels of Isoproterenol-Stimulated cAMP in Lymphocytes., American journal of human genetics , 37(1), 1985, pp. 124-132

Mother-Child HLA Compatibility Ratios in Children of Amerindian Parents Who Share Common Haplotypes.

Authors: Black, F. L.

Journal: American journal of human genetics

Citation: L. Black, F., Mother-Child HLA Compatibility Ratios in Children of Amerindian Parents Who Share Common Haplotypes., American journal of human genetics , 37(1), 1985, pp. 133-137

Hereditary Heat-Labile Hexosaminidase B: A Variant Whose Homozygotes Synthesize a Functional HEX A.

Authors: Navon, R. , Kopel, R. , Nutman, J. , Frisch, A. , Conzelmann, E. , Sandhoff, K.

Journal: American journal of human genetics

Citation: . Navon, R. , Kopel, R. , Nutman, J. , Frisch, A. , Conzelmann, E. , Sandhoff, K., Hereditary Heat-Labile Hexosaminidase B: A Variant Whose Homozygotes Synthesize a Functional HEX A., American journal of human genetics , 37(1), 1985, pp. 138-146

Identification of Human Red Cell Glutamate-Pyruvate Transaminase (GPT) Phenotypes by Isoelectric Focusing.

Authors: Pelzer, C. F. and Norum, R. A.

Journal: American journal of human genetics

Citation: A. Pelzer, C. F. And Norum, R., Identification of Human Red Cell Glutamate-Pyruvate Transaminase (GPT) Phenotypes by Isoelectric Focusing., American journal of human genetics , 37(1), 1985, pp. 147-152

Twin Concordance for a Binary Trait. II. Nested Analysis of Ever-Smoking and Ex-Smoking Traits and Unnested Analysis of a "'Committed-Smoking" Trait.

Authors: Hannah, M. C. , Hooper, J. L. and Mathews, J. D.

Journal: American journal of human genetics

Citation: D. Hannah, M. C. , Hooper, J. L. And Mathews, J., Twin Concordance for a Binary Trait. II. Nested Analysis of Ever-Smoking and Ex-Smoking Traits and Unnested Analysis of a "'Committed-Smoking" Trait., American journal of human genetics , 37(1), 1985, pp. 153-165

Family-Size Distribution and Ewens' Equivalence Theorem.

Authors: Hodge, Susan E.

Journal: American journal of human genetics

Citation: E. Hodge, Susan, Family-Size Distribution and Ewens' Equivalence Theorem., American journal of human genetics , 37(1), 1985, pp. 166-177

Path Analysis of Family Resemblance with Temporal Trends: Applications lo Height, Weight, and Quetelet Index in Northeastern Brazil.

Authors: Province, M. A. and Rao, D. C.

Journal: American journal of human genetics

Citation: C. Province, M. A. And Rao, D., Path Analysis of Family Resemblance with Temporal Trends: Applications lo Height, Weight, and Quetelet Index in Northeastern Brazil., American journal of human genetics , 37(1), 1985, pp. 178-192

The Effect of Methionine and 5-Azacytidine on Fragile X Expression.

Authors: Abruzzo, M. A. , Mayer, M. and Jacobs, P. A.

Journal: American journal of human genetics

Citation: A. Abruzzo, M. A. , Mayer, M. And Jacobs, P., The Effect of Methionine and 5-Azacytidine on Fragile X Expression., American journal of human genetics , 37(1), 1985, pp. 193-198

Genes Controlling gp25/30 Cell-Surface Molecules Map to Chromosomes X and Y and Escape X-Inactivation.

Authors: Dracopoli, N. C. , Rettig, W. J. , Albino, A. P. , Esposito, D. , Archidiacono,

Journal: American journal of human genetics

Citation: . Dracopoli, N. C. , Rettig, W. J. , Albino, A. P. , Esposito, D. , Archidiacono,, Genes Controlling gp25/30 Cell-Surface Molecules Map to Chromosomes X and Y and Escape X-Inactivation., American journal of human genetics , 37(1), 1985, pp. 199-207

Fra(10)(q25): The BrdU Effect Is Substitution-Dependent.

Authors: Gollin, S. M. , Holmquist, G. P. and Ledbetter, D. H.

Journal: American journal of human genetics

Citation: H. Gollin, S. M. , Holmquist, G. P. And Ledbetter, D., Fra(10)(q25): The BrdU Effect Is Substitution-Dependent., American journal of human genetics , 37(1), 1985, pp. 208-214

A Structural Locus for Coagulation Factor XIIIA (FI3A) Is Located Distal to the HLA Region on Chromosome 6p in Man.

Authors: Olaisen, B. , Gedde-Dahl, T. Jr., Teisberg, P. , Thorsby, E. , Siverts, A. , Jon

Journal: American journal of human genetics

Citation: Olaisen, B. , Gedde-dahl, T. Jr., Teisberg, P. , Thorsby, E. , Siverts, A. , Jon, A Structural Locus for Coagulation Factor XIIIA (FI3A) Is Located Distal to the HLA Region on Chromosome 6p in Man., American journal of human genetics , 37(1), 1985, pp. 215-220

Chromosome Translocations in Fibroblast Cultures Derived from Patients with Werner's Syndrome.

Authors: Benn, P. A.

Journal: American journal of human genetics

Citation: A. Benn, P., Chromosome Translocations in Fibroblast Cultures Derived from Patients with Werner's Syndrome., American journal of human genetics , 37(1), 1985, pp. 221-223

Book Reviews

Authors:

Journal: American journal of human genetics

Citation: , Book Reviews, American journal of human genetics , 37(1), 1985, pp. 224-234

Localization of DNA Sequences in Region Xp21 of the Human X Chromosome: Search for Molecular Markers Close to the Duchenne Muscular Dystrophy Locus.

Authors: de Martinville, B. , Kunkel, L. M. , Bruns, G. , Morlé, F. , Koenig, M. , Mandel

Journal: American journal of human genetics

Citation: De Martinville, B. , Kunkel, L. M. , Bruns, G. , Morlé, F. , Koenig, M. , Mandel, Localization of DNA Sequences in Region Xp21 of the Human X Chromosome: Search for Molecular Markers Close to the Duchenne Muscular Dystrophy Locus., American journal of human genetics , 37(2), 1985, pp. 235-249

Minor Xp21 Chromosome Deletion in a Male Associated with Expression of Duchenne Muscular Dystrophy, Chronic Granulomatous Disease, Retinitis Pigmentosa, and McLeod Syndrome.

Authors: Francke, U. , Ochs, H. D. , de Martin-ville, B. , Giacalone, J. , Lindgren, V. ,

Journal: American journal of human genetics

Citation: Francke, U. , Ochs, H. D. , De Martin-ville, B. , Giacalone, J. , Lindgren, V. ,, Minor Xp21 Chromosome Deletion in a Male Associated with Expression of Duchenne Muscular Dystrophy, Chronic Granulomatous Disease, Retinitis Pigmentosa, and McLeod Syndrome., American journal of human genetics , 37(2), 1985, pp. 250-267

Role of the Apolipoprotein E Polymorphism in Determining Normal Plasma Lipid and Lipoprotein Variation.

Authors: Sing, C. F. and Davignon, J.

Journal: American journal of human genetics

Citation: J. Sing, C. F. And Davignon,, Role of the Apolipoprotein E Polymorphism in Determining Normal Plasma Lipid and Lipoprotein Variation., American journal of human genetics , 37(2), 1985, pp. 268-285

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