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Results : 51-75/100

Maternal-Age Effect in Aneuploidy: Does Altered Embryonic Selection Play a Role?

Authors: Ayme, S. Lippman-Hand, A.

Journal: American journal of human genetics

Citation: S. Ayme, et A. Lippman-hand,, Maternal-Age Effect in Aneuploidy: Does Altered Embryonic Selection Play a Role?, American journal of human genetics , 34(4), 1982, pp. 558-565

Normal Reconstruction of DNA Supercoiling and Chromatin Structure in Cockayne Syndrome Cells during Repair of Damage from Ultraviolet Light

Authors: Clever, J. E.

Journal: American journal of human genetics

Citation: E. Clever, J., Normal Reconstruction of DNA Supercoiling and Chromatin Structure in Cockayne Syndrome Cells during Repair of Damage from Ultraviolet Light, American journal of human genetics , 34(4), 1982, pp. 566-575

A Large Phenotypic Sib-Sib Discordance for the Rh Blood System. A Possible New Feto-Maternal Compatibility System

Authors: Valenzuela, C. Y. Harb, Z. Avendano, A. Acuna, M.

Journal: American journal of human genetics

Citation: Y. Valenzuela, C. et al., A Large Phenotypic Sib-Sib Discordance for the Rh Blood System. A Possible New Feto-Maternal Compatibility System, American journal of human genetics , 34(4), 1982, pp. 576-589

Evidence for a Defect of Holocarboxulase Synthase Activity in Cultured Lymphoblast from a Patient with Biotin-Responsive Multiple Carboxylase Deficiency

Authors: Saunders, M. E. Sherwood, W. G. Duthie, M. Surh, L. Gravel, R. A.

Journal: American journal of human genetics

Citation: E. Saunders, M. et al., Evidence for a Defect of Holocarboxulase Synthase Activity in Cultured Lymphoblast from a Patient with Biotin-Responsive Multiple Carboxylase Deficiency, American journal of human genetics , 34(4), 1982, pp. 590-601

Endocytosis of Lysosomal Alpha-Galactosidase A by Cultured Fibroblasts from Patients with Fabry Disease

Authors: Mayes, J. S. Cray, E. L. Dell, V. A. Scheerer, J. B. Sifers, R. N.

Journal: American journal of human genetics

Citation: S. Mayes, J. et al., Endocytosis of Lysosomal Alpha-Galactosidase A by Cultured Fibroblasts from Patients with Fabry Disease, American journal of human genetics , 34(4), 1982, pp. 602-610

Two Clonal Cell Populations (Mosaicism) in a 46,XY Male with Muscolipidosis II (I-Cell Disease) - An Autosomal Recessive Disorder

Authors: Thomas, G. H. Miller, C. S. Toomey, M. E. Reynolds, L. W. Reitman, M. L. Varki, A. Vannier, A. Rosenbaum, K. N. Bias, W. B. Schofield, B. H.

Journal: American journal of human genetics

Citation: H. Thomas, G. et al., Two Clonal Cell Populations (Mosaicism) in a 46,XY Male with Muscolipidosis II (I-Cell Disease) - An Autosomal Recessive Disorder, American journal of human genetics , 34(4), 1982, pp. 611-622

Two Previously Undetected Variants of Glutamic-Pyruvic Transaminase Found by Acidic Polyacrylamide Gel Electrophoresis

Authors: McLellan, T.

Journal: American journal of human genetics

Citation: T. Mclellan,, Two Previously Undetected Variants of Glutamic-Pyruvic Transaminase Found by Acidic Polyacrylamide Gel Electrophoresis, American journal of human genetics , 34(4), 1982, pp. 623-629

Refutation of the General Single-Locus Model for the Etiology of Schizophrenia

Authors: O'Rourke, D. H. Gottesman, I. I. Suarez, B. K. Rice, J. Reich, T.

Journal: American journal of human genetics

Citation: H. O'Rourke, D. et al., Refutation of the General Single-Locus Model for the Etiology of Schizophrenia, American journal of human genetics , 34(4), 1982, pp. 630-649

Lactase Polymorphism in Adult British Natives: Estimating Allele Frequencies by Enzyme Assays in Autopsy Samples

Authors: Ho, H. W. Povey, S. Swallow, D.

Journal: American journal of human genetics

Citation: W. Ho, H. et al., Lactase Polymorphism in Adult British Natives: Estimating Allele Frequencies by Enzyme Assays in Autopsy Samples, American journal of human genetics , 34(4), 1982, pp. 650-657

Contribution of Familial Factors to the Occurrence of Cancer before Old Age in Twin Veterans

Authors: Hrubec, Z. Neel, J. V.

Journal: American journal of human genetics

Citation: Z. Hrubec, et V. Neel, J., Contribution of Familial Factors to the Occurrence of Cancer before Old Age in Twin Veterans, American journal of human genetics , 34(4), 1982, pp. 658-671

Carrier Detection in Christ-Siemens-Touraine Syndrome (X-Linked Hypohidrotic Ectodermal Dysplasia)

Authors: Freire-Maia, N. and Pinheiro, M.

Journal: American journal of human genetics

Citation: M. Freire-maia, N. And Pinheiro,, Carrier Detection in Christ-Siemens-Touraine Syndrome (X-Linked Hypohidrotic Ectodermal Dysplasia), American journal of human genetics , 34(4), 1982, pp. 672-673

Transmission of Z Allele from Heterozygote Males for alpha1-Antitrypsin Deficiency: Additional Family Data

Authors: Constans, J. ,Chakraborty, R. and Majumder, P. P.

Journal: American journal of human genetics

Citation: P. Constans, J. ,chakraborty, R. And Majumder, P., Transmission of Z Allele from Heterozygote Males for alpha1-Antitrypsin Deficiency: Additional Family Data, American journal of human genetics , 34(4), 1982, pp. 674-675

Book Reviews

Authors:

Journal: American journal of human genetics

Citation: , Book Reviews, American journal of human genetics , 34(4), 1982, pp. 676-681

The William Allan Memorial Award Presentation

Authors: Hamerton, J. L.

Journal: American journal of human genetics

Citation: L. Hamerton, J., The William Allan Memorial Award Presentation, American journal of human genetics , 34(5), 1982, pp. 683-688

Human Population Cytogenetics: The First Twenty-Five Years

Authors: Jacobs, P. A.

Journal: American journal of human genetics

Citation: A. Jacobs, P., Human Population Cytogenetics: The First Twenty-Five Years, American journal of human genetics , 34(5), 1982, pp. 689-698

The Biotin-Dependent Carboxylase Deficiencies

Authors: Wolf, B. and Feldman, G. L.

Journal: American journal of human genetics

Citation: L. Wolf, B. And Feldman, G., The Biotin-Dependent Carboxylase Deficiencies, American journal of human genetics , 34(5), 1982, pp. 699-716

Demostration of the Heterozygous State of I-Cell Disease and Pseudo-Hurler Polydystrophy by Assay of N-Acetylglucosaminylphosphotransferase in White Blood Cells and Fibroblast

Authors: Vorki, A. , Reitman, M. L. , Vannier, A. , Kornfeld, S. , Grubb, J. H. and Sly,

Journal: American journal of human genetics

Citation: . Vorki, A. , Reitman, M. L. , Vannier, A. , Kornfeld, S. , Grubb, J. H. And Sly,, Demostration of the Heterozygous State of I-Cell Disease and Pseudo-Hurler Polydystrophy by Assay of N-Acetylglucosaminylphosphotransferase in White Blood Cells and Fibroblast, American journal of human genetics , 34(5), 1982, pp. 717-729

Genetic Mapping: Chromosome 6-22

Authors: Keats, B.

Journal: American journal of human genetics

Citation: B. Keats,, Genetic Mapping: Chromosome 6-22, American journal of human genetics , 34(5), 1982, pp. 730-742

Fifteen-Year Experience with Screening for Phenylketonuria with and Automated Flurometric Method

Authors: Kirkman, H. N. Carroll, C. L. Moore, E. G. Matheson, M. S.

Journal: American journal of human genetics

Citation: N. Kirkman, H. et al., Fifteen-Year Experience with Screening for Phenylketonuria with and Automated Flurometric Method, American journal of human genetics , 34(5), 1982, pp. 743-752

Heritable Fragile Sites on Human Chromosomes. IX. Population Cytogenetics and Segregation Analysis of the BrdU-Requiring Fragile Site at 10q25

Authors: Sutherland, G. R.

Journal: American journal of human genetics

Citation: R. Sutherland, G., Heritable Fragile Sites on Human Chromosomes. IX. Population Cytogenetics and Segregation Analysis of the BrdU-Requiring Fragile Site at 10q25, American journal of human genetics , 34(5), 1982, pp. 753-756

Patterns of DNA Replication of Human Chromosomes. II. Replication Map and Replication Model

Authors: Camargo, M. and Cervenka, J.

Journal: American journal of human genetics

Citation: J. Camargo, M. And Cervenka,, Patterns of DNA Replication of Human Chromosomes. II. Replication Map and Replication Model, American journal of human genetics , 34(5), 1982, pp. 757-780

Congenital Malformations and Developmental Disabilities in Ataxia-Telangiectasia, Fanconi Anemia, and Xeroderma Pigmentosum Families

Authors: Welshimer, K. and Swift, M.

Journal: American journal of human genetics

Citation: M. Welshimer, K. And Swift,, Congenital Malformations and Developmental Disabilities in Ataxia-Telangiectasia, Fanconi Anemia, and Xeroderma Pigmentosum Families, American journal of human genetics , 34(5), 1982, pp. 781-793

The Identification of Fanconi Anemia Genotypes by Clastogenic Stress

Authors: Cohen, M. M. Simpson, S. J. Honig, G. R. Maurer, H. S. Nicklas, J. W. Martin, A. O.

Journal: American journal of human genetics

Citation: M. Cohen, M. et al., The Identification of Fanconi Anemia Genotypes by Clastogenic Stress, American journal of human genetics , 34(5), 1982, pp. 794-810

Genetic Evidence for the Inactivation of a Human Autosomal Locus Attached to an Inactive X Chromosome

Authors: Mohandas, T. , Sparkes, R. S. and Shapiro, L. J.

Journal: American journal of human genetics

Citation: J. Mohandas, T. , Sparkes, R. S. And Shapiro, L., Genetic Evidence for the Inactivation of a Human Autosomal Locus Attached to an Inactive X Chromosome, American journal of human genetics , 34(5), 1982, pp. 811-817

Parental Recessive Allele Frequency and Recessive Survival Rate in Hman Genetic Disorders

Authors: Severn, D. J.

Journal: American journal of human genetics

Citation: J. Severn, D., Parental Recessive Allele Frequency and Recessive Survival Rate in Hman Genetic Disorders, American journal of human genetics , 34(5), 1982, pp. 818-819

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