Kennedy Krieger Institute

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1963

Xanthine dehydrogenase in Drosophila: Detection of isozymes

Smith, K. D., Ursprung, H. & Wright, T. R. F., 1963, In : Science. 142, 3589, p. 226-227 2 p.

Research output: Contribution to journalArticle

1967

Genetic control of macromolecular synthesis during development of an ascidian: Ascidia nigra.

Smith, K. D., Apr 1967, In : Journal of Experimental Zoology. 164, 3, p. 393-405 13 p.

Research output: Contribution to journalArticle

1968

Assay systems for the study of gene function

Ursprung, H., Smith, K. D., Sofer, W. H. & Sullivan, D. T., 1968, In : Science. 160, 3832, p. 1075-1081 7 p.

Research output: Contribution to journalArticle

1969

Template specificity of isolated chromatin

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

Research output: Contribution to journalArticle

β-d-Galactosidase in human urine: Deficiency in generalized gangliosidosis

Thomas, G. H., Nov 1969, In : The Journal of Laboratory and Clinical Medicine. 74, 5, p. 725-731 7 p.

Research output: Contribution to journalArticle

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1978

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

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

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

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

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

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

1979

A behavior analysis approach to high-rate myoclonic seizures

Cataldo, M. F., Russo, D. C. & Freeman, J. M., Dec 1979, In : Journal of Autism and Developmental Disorders. 9, 4, p. 413-427 15 p.

Research output: Contribution to journalArticle

Acute control of fatty acid synthesis by cyclic AMP in the chick liver cell: Possible site of inhibition of citrate formation

Clarke, S. D., Watkins, P. A. & Lane, M. D., 1979, In : Journal of Lipid Research. 20, 8, p. 974-985 12 p.

Research output: Contribution to journalArticle

A molecular basis for hemoglobin-H disease in American blacks

Phillips, J. A., Scott, A. F., Smith, K. D., Young, K. E., Lightbody, K. L., Jiji, R. M. & Kazazian, H. H., 1979, In : Blood. 54, 6, p. 1439-1445 7 p.

Research output: Contribution to journalArticle