Kennedy Krieger Institute

Research Output 1963 2020

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1979

Methylazoxymethanol treatment of fetal rats results in abnormally dense noradrenergic innervation of neocortex

Johnston, M. V., Grzanna, R. & Coyle, J. T., 1979, In : Science. 203, 4378, p. 369-371 3 p.

Research output: Contribution to journalArticle

Neocortex
Axons
Aminobutyrates
Adrenergic Neurons
Atrophy

Neuraminidase deficiency in the original patient with the Goldberg syndrome

Thomas, G. H., Goldberg, M. F., Miller, C. S. & Reynolds, L. W., 1979, In : Clinical Genetics. 16, 5, p. 323-330 8 p.

Research output: Contribution to journalArticle

Neuraminic Acids
Mucolipidoses
Neuraminidase
Fibroblasts
Dysostoses

Organization and Heterogeneity of Sequences within a Repeating Unit of Human Y Chromosome Deoxyribonucleic Acid

Boyer, S. H., Smith, K. D. & Kunkel, L. M., 1979, In : Biochemistry. 18, 15, p. 3343-3353 11 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Y
Chromosomes
Y Chromosome
DNA
Molecules

Partial purification and characterization of DNA from the human X chromosome

Schmeckpeper, B. J., Smith, K. D., Dorman, B. P., Ruddle, F. H. & Talbot, C. C., 1979, In : Proceedings of the National Academy of Sciences of the United States of America. 76, 12, p. 6525-6528 4 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
DNA
DNA Probes
X Chromosome
Hybrid Cells

Partial trisomy 4q resulting from a familial 4/3 translocation

Kelly, T. E., Haslam, R. H. A. & Thomas, G. H., 1979, In : Southern Medical Journal. 72, 11, p. 1459-1461 3 p.

Research output: Contribution to journalArticle

Chromosomes, Human, 4-5
Chromosomes, Human, 1-3
Karyotyping
Genetic Translocation
Trisomy

PRENATAL DIAGNOSIS OF FARBER'S DISEASE

Fensom, A. H., Neville, B. R. G., Moser, A. B., Benson, P. F., Moser, H. W. & Dulaney, J. T., Nov 10 1979, In : The Lancet. 314, 8150, p. 990-992 3 p.

Research output: Contribution to journalArticle

Farber Lipogranulomatosis
Prenatal Diagnosis
Ceramidases
Pregnancy
Cultured Cells

SV40 recombinants carrying rabbit β-globin gene coding sequences

Hamer, D. H., Smith, K. D., Boyer, S. H. & Leder, P., 1979, In : Cell. 17, 3, p. 725-735 11 p.

Research output: Contribution to journalArticle

Globins
Genes
Rabbits
RNA
RNA Splicing
1978
Behavior Therapy
Pharmaceutical Preparations
Methylphenidate
Therapeutics
Drug Effects

CLUSTER OF TRISOMY 13 LIVE BIRTHS

Pai, G. S., Valle, D., Thomas, G. & Rosenbaum, K., Mar 18 1978, In : The Lancet. 311, 8064, p. 613 1 p.

Research output: Contribution to journalArticle

Space-Time Clustering
Chromosomes, Human, 13-15
Trisomy
Live Birth
Newborn Infant

Effect of cAMP on insulin-induced acetyl-CoA carboxylase (CBX) synthesis

Tarlow, D. M., Meredith, M. J., Watkins, P. A. & Lane, M. D., 1978, In : Federation proceedings. 37, 6

Research output: Contribution to journalArticle

Acetyl-CoA Carboxylase
Insulin

Experimental analysis of EMG feedback in treating cerebral palsy

Cataldo, M. F., Bird, B. L. & Cunningham, C. E., Sep 1978, In : Journal of Behavioral Medicine. 1, 3, p. 311-322 12 p.

Research output: Contribution to journalArticle

Cerebral Palsy
Muscles

Experimental analysis of EMG feedback in treating dystonia.

Bird, B. L. & Cataldo, M. F., Apr 1978, In : Annals of Neurology. 3, 4, p. 310-315 6 p.

Research output: Contribution to journalArticle

Dystonia
Facial Muscles
Dystonic Disorders
Palliative Care
Forearm

High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients

Kawamura, N., Moser, A. B., Moser, H. W., Ogino, T., Suzuki, K., Schaumburg, H., Milunsky, A., Murphy, J. & Kishimoto, Y., May 15 1978, In : Biochemical and Biophysical Research Communications. 82, 1, p. 114-120 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Fibroblasts
Skin
Lipids
Fatty Acids
Tics
Self-monitoring
Reinforcement
Therapeutics
Clinic

Sialidase (α-N-acetyl neuradminidase) deficiency: The enzyme defect in an adult with macular cherry red spots and myoclonus without dementia

Thomas, G. H., Tipton, R. E., Ch'ien, L. T., Reynolds, L. W. & Miller, C. S., 1978, In : Clinical Genetics. 13, 4, p. 369-379 11 p.

Research output: Contribution to journalArticle

Myoclonus
Neuraminidase
Dementia
Fibroblasts
Enzymes
Genetic Techniques
point mutation
messenger RNA
Point Mutation
Amino Acid Sequence
1977

Analysis of human Y chromosome specific reiterated DNA in chromosome variants

Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W. & Rary, J. M., 1977, In : Proceedings of the National Academy of Sciences of the United States of America. 74, 3, p. 1245-1249 5 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Y
Y Chromosome
Chromosomes
DNA
Genetic Markers

Considerations in the analysis and treatment of dietary effects on behavior: A case study

Bird, B. L., Russo, D. C. & Cataldo, M. F., Dec 1977, In : Journal of Autism and Childhood Schizophrenia. 7, 4, p. 373-382 10 p.

Research output: Contribution to journalArticle

Behavior Therapy
Child Behavior
Mental Disorders
Therapeutics
Diet

Lipogenesis and the synthesis and secretion of very low density lipoprotein by avian liver cells in nonproliferating monolayer culture. Hormonal effects

Tarlow, D. M., Watkins, P. A., Reed, R. E., Miller, R. S., Zwergel, E. E. & Lane, M. D., 1977, In : Journal of Cell Biology. 73, 2, p. 332-353 22 p.

Research output: Contribution to journalArticle

Lipogenesis
VLDL Lipoproteins
Fatty Acids
Chickens
Liver
Glucagon
Cyclic AMP
Fatty Acids
Liver

More on factors related to intellectual development of children with Down syndrome

Shapiro, B. K. & Heppel, D., 1977, In : Journal of Pediatrics. 91, 2, p. 345-346 2 p.

Research output: Contribution to journalArticle

Educational Status
Intelligence Tests
Child Development
Down Syndrome

The stiff skin syndrome: new genetic and biochemical investigations

Singer, H., Valle, D., Rogers, J. & Thomas, G., 1977, In : Birth Defects: Original Article Series. 13, 3 B, p. 254-255 2 p.

Research output: Contribution to journalArticle

Molecular Biology
Skin
Mobility Limitation
Proteoglycans
Glycosaminoglycans
1976

Central nervous system infection with Eikenella corrodens: report of two cases

Rubenstein, J., Lieberman, M. F. & Gadoth, N., 1976, In : Pediatrics. 57, 2, p. 264-265 2 p.

Research output: Contribution to journalArticle

Eikenella corrodens
Central Nervous System Infections
Terminology
Pediatrics
Infection

Cerebral Palsy: A Pediatric Developmentalist's Overview

Vining, E. P. G., Accardo, P. J., Rubenstein, J., Farrell, S. E. & Roizen, N. J., 1976, In : American Journal of Diseases of Children. 130, 6, p. 643-649 7 p.

Research output: Contribution to journalArticle

Cerebral Palsy
Pediatrics
Special Education
Occupational Therapy
Neurosurgery

Human Y-chromosome-specific reiterated DNA

Kunkel, L. M., Smith, K. D. & Boyer, S. H., 1976, In : Science. 191, 4232, p. 1189-1190 2 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Y
Y Chromosome
DNA

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells

Milstien, S., Holtzman, N. A., O'Flynn, M. E., Thomas, G. H., Butler, I. J. & Kaufman, S., 1976, In : Journal of Pediatrics. 89, 5, p. 763-766 4 p.

Research output: Contribution to journalArticle

Dihydropteridine Reductase
Phenylketonurias
Enzyme Assays
Amniotic Fluid
Heterozygote

Increased levels of sialic acid associated with a sialidase deficiency in I cell disease (mucolipidosis II) fibroblasts

Thomas, G. H., Tiller, G. E., Reynolds, L. W., Miller, C. S. & Bace, J. W., 1976, In : Biochemical and Biophysical Research Communications. 71, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Mucolipidoses
Neuraminidase
N-Acetylneuraminic Acid
Fibroblasts
Mannosidase Deficiency Diseases

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

Thomas, G. H., Tiller, G. E., Reynolds, L. W., Miller, C. S. & Bace, J. W., Jul 12 1976, In : Biochemical and Biophysical Research Communications. 71, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Mucolipidoses
Neuraminidase
N-Acetylneuraminic Acid
Fibroblasts
Mannosidase Deficiency Diseases

Isolation and uses of chromosome specific reiterated DNA

Smith, K. D., Kunkel, L. & Boyer, S. H., 1976, In : Cytogenetics and Cell Genetics. 16, 1-5, p. 401-404 4 p.

Research output: Contribution to journalArticle

Species Specificity
Chromosomes
DNA

Isolation and uses of chromosome-specific reiterated DNA

Smith, K. D., Kunkel, L. & Boyer, S. H., 1976, In : Birth Defects: Original Article Series. 12, 7, p. 401-404 4 p.

Research output: Contribution to journalArticle

Nucleic Acid Renaturation
Genetic Techniques
Bacterial DNA
Sex Chromosomes
Chromosomes

Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents

Aylsworth, A. S., Taylor, H. A., Stuart, C. M. & Thomas, G. H., 1976, In : Journal of Pediatrics. 88, 5, p. 814-818 5 p.

Research output: Contribution to journalArticle

Mannosidase Deficiency Diseases
Mannosidases
Fibroblasts
Parents
Dysostoses

Transcription of isolated mouse liver chromatin

Bacheler, L. T. & Smith, K. D., 1976, In : Biochemistry®. 15, 15, p. 3281-3290 10 p.

Research output: Contribution to journalArticle

Transcription
Liver
Chromatin
RNA
DNA
1975

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

Thomas, G. H., Haslam, R. H. A., Batshaw, M. L., Capute, A. J., Neidengard, L. & Ransom, J. L., 1975, In : Clinical Genetics. 8, 5, p. 376-382 7 p.

Research output: Contribution to journalArticle

Peroxisomal Disorders
Hepatomegaly
Optic Nerve
Intellectual Disability
Serum

Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblasts

Taylor, H. A., Thomas, G. H., Aylsworth, A., Stevenson, R. E. & Reynolds, L. W., Feb 22 1975, In : Clinica Chimica Acta. 59, 1, p. 93-99 7 p.

Research output: Contribution to journalArticle

Mannosidase Deficiency Diseases
Mannosidases
Fibroblasts
Electrophoresis
Skin
1974

Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

Thomas, G. H., Taylor, H. A., Miller, C. S., Axelman, J. & Migeon, B. R., 1974, In : Nature. 250, 5467, p. 580-582 3 p.

Research output: Contribution to journalArticle

Hexosaminidase A
Hexosaminidase B
Hexosaminidases
Fibroblasts
Sandhoff Disease
Polyribosomes
Hemoglobins
RNA
Rabbits
Messenger RNA
Ultraviolet Spectrophotometry
Genetic Transcription
Antigen-antibody reactions
Antigen-Antibody Reactions
Antibody Binding Sites

Use of radioimmunoassay to study diphenylhydantoin pharmacokinetics in children

Johnston, M. V., Haslam, R. H. A. & Lietman, P. S., 1974, In : Pediatric Research. 8, 4, p. 363 1 p.

Research output: Contribution to journalArticle

Phenytoin
Radioimmunoassay
Pharmacokinetics
1973

Analysis of n-acetyl-β-d-glucosaminidase in mucolipidosis II (I-cell disease)

Lie, K. K., Thomas, G. H., Taylor, H. A. & Sensenbrenner, J. A., May 18 1973, In : Clinica Chimica Acta. 45, 3, p. 243-248 6 p.

Research output: Contribution to journalArticle

Mucolipidoses
Hexosaminidases
Fibroblasts
Enzymes
Serum

Developmental abnormalities associated with a ring chromosome 6

Moore, C. M., Heller, R. H. & Thomas, G. H., 1973, In : Journal of Medical Genetics. 10, 3, p. 299-303 5 p.

Research output: Contribution to journalArticle

Quinacrine Mustard
Microcephaly
Cytogenetics
Intellectual Disability
Staining and Labeling

Mucolipidosis III (pseudo Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

Taylor, H. A., Thomas, G. H. & Miller, C. S., 1973, In : Clinical Genetics. 4, 5, p. 388-397 10 p.

Research output: Contribution to journalArticle

Mucolipidoses
Cultured Cells
Fibroblasts
Electron Microscopy
Microscopy

Mucolipidosis III (pseudo-hurler poly dystrophy): Multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells

Thomas, G. H., Taylor, H. A., Reynolds, L. W. & Miller, C. S., 1973, In : Pediatric Research. 7, 9, p. 751-756 6 p.

Research output: Contribution to journalArticle

Mucolipidoses
Cultured Cells
Fibroblasts
Enzymes
Serum

SCREENING FOR MUCOLIPIDOSIS

Kelly, T., Thomas, G. & Taylor, H., Nov 10 1973, In : The Lancet. 302, 7837, p. 1089 1 p.

Research output: Contribution to journalArticle

The electrocardiographic diagnosis of left ventricular hypertrophy in apparently normal children

Traywick, J. P., Maron, B. J., Schuberth, K. C. & Krovetz, L. J., 1973, In : Journal of Pediatrics. 83, 2, p. 201-205 5 p.

Research output: Contribution to journalArticle

Left Ventricular Hypertrophy
Electrocardiography
Signs and Symptoms
Cardiovascular Diseases
Thorax
1972

Arylsulfatase activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy

Thomas, G. H. & Howell, R. R., 1972, In : Clinica Chimica Acta. 36, 1, p. 99-103 5 p.

Research output: Contribution to journalArticle

Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Arylsulfatases
Human Activities
Urine

Molecular aspects of chromatin elimination in Ascaris lumbricoides

Tobler, H., Smith, K. D. & Ursprung, H., 1972, In : Developmental Biology. 27, 2, p. 190-203 14 p.

Research output: Contribution to journalArticle

Ascaris lumbricoides
Chromatin
DNA
Ribosomal DNA
Genome Size

Use of formamide in nucleic acid reassociation

Schmeckpeper, B. J. & Smith, K. D., 1972, In : Biochemistry®. 11, 7, p. 1319-1326 8 p.

Research output: Contribution to journalArticle

Nucleic Acids
Thermodynamic stability
Hot Temperature
Buffers
RNA
1971

Developmental changes in amino acid concentrations in human amniotic fluid: Abnormal findings in maternal phenylketonuria

Thomas, G. H., Parmley, T. H., Stevenson, R. E. & Rodney Howell, R., Sep 1 1971, In : American Journal of Obstetrics and Gynecology. 111, 1, p. 38-42 5 p.

Research output: Contribution to journalArticle

Maternal Phenylketonuria
Amniotic Fluid
Amino Acids
Pregnancy
Phenylketonurias
1970

C-Group Chromosome Abnormality (? 10p-): Occurrence in a Child with Multiple Malformations

Elliott, D., Thomas, G. H., Condron, C. J., Khuri, N. & Richardson, F., 1970, In : American Journal of Diseases of Children. 119, 1, p. 72-73 2 p.

Research output: Contribution to journalArticle

Chromosomes, Human, 6-12 and X
Chromosome Disorders
Multiple Abnormalities
Chromosome Aberrations
Newborn Infant
1969

Template specificity of isolated chromatin

Smith, K. D., 1969, In : Biochemistry®. 8, 11, p. 4271-4277 7 p.

Research output: Contribution to journalArticle

Chromatin
RNA
Transcription
Tissue
Molecules