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Your search keyword '"Magenis, R E"' showing total 11 results
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11 results on '"Magenis, R E"'

3. Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

Author

Magenis, R E, Koler, R D, Lovrien, E, Bigley, R H, DuVal, M C, and Overton, K M

Abstract

A child, trisomic for the distal short arm of chromosome 2 due to a familial 2/18 translocation, has elevated levels of activity of erythrocyte acid phosphatase [orthophosphoric-monoester phosphohydrolase (acid optimum), 3.1.3.2] Ferguson-Smith et al. [(1973) Nature New Biol. 243, 271-274] previously had found decreased levels of activity and loss of expression of an erythrocyte acid phosphatase allele in a subject who lacked one of the two homologous regions containing the distal three bands of chromosome 2. They suggested that the locus for erythrocyte acid phosphatase is located on that segment. Our findings provide further evidence for this assignment and also suggest an in vivo gene dosage effect of this autosomal locus, which depends on both the type and number of alleles present.

Published
1975
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4. Colored reverse-banding of human chromosomes with acridine orange following alkaline-formalin treatment: densitometric validation and applications.

Author

Wyandt HE, Vlietinck RF, Magenis RE, and Hecht F

Subjects
Acridines, Cell Division, Cells, Cultured, Chromosome Aberrations, DNA, Densitometry, Formaldehyde, Humans, Karyotyping, Lymphocytes cytology, Methods, Nucleic Acid Denaturation drug effects, Sodium Hydroxide, Trypsin pharmacology, Chromosomes, Staining and Labeling
Published
1974
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5. Amniocentesis for antenatal diagnosis of genetic disorders.

Author

Prescott GH, Magenis RE, and Buist NR

Subjects
Amniocentesis, Chromosome Aberrations, Female, Genetics, Medical, Humans, Metabolism, Inborn Errors diagnosis, Pregnancy, Sex Chromosomes, Amnion, Amniotic Fluid analysis, Fetal Diseases diagnosis, Genetic Diseases, Inborn diagnosis, Punctures
Published
1972
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6. Partial trisomy 15.

Author

Magenis RE, Overton KM, Reiss JA, Macfarlane JP, and Hecht F

Subjects
Abnormalities, Multiple genetics, Child, Female, Humans, Karyotyping, Chromosomes, Human, 13-15, Trisomy
Published
1972
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9. Clinical cytogenetics. Dawn breaks on a new era.

Author

Hecht F, Magenis RE, and McCaw BK

Subjects
Child, Chromosome Aberrations diagnosis, Chromosome Disorders, Female, Humans, Infant, Newborn, Karyotyping, Male, Quinacrine, Sex Chromosomes analysis, Staining and Labeling, Cytogenetics
Published
1973

10. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.

Author

Magenis RE, Hecht F, and Milham S Jr

Subjects
Abnormalities, Multiple genetics, Adolescent, Adult, Age Factors, Child, Child, Preschool, Chromosome Aberrations mortality, Chromosome Disorders, Female, Humans, Infant, Infant, Newborn, Male, Maternal Age, Middle Aged, Mosaicism, Parents, Sex Ratio, Chromosome Aberrations genetics, Chromosomes, Human, 13-15, Family, Trisomy
Published
1968
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11. Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man.

Author

Magenis RE, Hecht F, and Lovrien EW

Subjects
Adolescent, Chromosome Disorders, Culture Techniques, Histocompatibility, Humans, Leukocytes cytology, Male, Pedigree, Recombination, Genetic, Chromosome Aberrations genetics, Chromosomes, Human, 16-18, Haptoglobins analysis
Abstract

We have found recurrent chromosome breaks at a site (the "fragile site") on the long arm of chromosome 16. This site segregates in simple Mendelian dominant fashion in a large family. The distal portion of the chromosome sometimes shows selective endoreduplication. Preliminary linkage results reveal only 3 recombinants in 33 opportunities for recombination between the fragile site and the alpha locus of haptoglobin, an indication that the alpha-Hp gene is located near this region on chromosome 16.

Published
1970
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