Health Sciences Research

Research Output 1992 2020

1994
7 Citations (Scopus)

Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics

Lindor, N. M., Sobell, J. L., Heston, L. L., Thibodeau, S. N. & Sommer, S. S., 1994, In : American Journal of Medical Genetics. 54, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

Dystrophin
Viverridae
Schizophrenia
Genes
Duchenne Muscular Dystrophy
1993
13 Citations (Scopus)

Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy

Jalal, S. M., Lindor, N. M., Michels, V. V., Buckley, D. D., Hoppe, D. A., Sarkar, G. & Dewald, G. W., 1993, In : American Journal of Medical Genetics. 46, 4, p. 441-443 3 p.

Research output: Contribution to journalArticle

Chromosome Fragility
Myotonic Dystrophy
Trinucleotide Repeats
Fragile X Syndrome
Reference Values
50 Citations (Scopus)

Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7

Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H. & Thibodeau, S. N., Jul 1993, In : Human Molecular Genetics. 2, 7, p. 869-873 5 p.

Research output: Contribution to journalArticle

Aortic Stenosis
Supravalvular Aortic Stenosis
Chromosomes, Human, Pair 7
Chromosomes
Chromosome
3 Citations (Scopus)

Eight novel polymorphisms in the dystrophin gene of African-Americans: The rate of polymorphism is high

Lindor, N. M., Sommer, S. S., Sobell, J., Heston, L. & Thibodeau, S. N., 1993, In : Human Mutation. 2, 6, p. 485-488 4 p.

Research output: Contribution to journalArticle

Dystrophin
Southern Blotting
Restriction Fragment Length Polymorphisms
African Americans
Genes
32 Citations (Scopus)

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Lindor, N. M., Jalal, S. M., Thibodeau, S. N., Bonde, D., Sauser, K. L. & Karnes, P. S., 1993, In : Clinical Genetics. 44, 4, p. 185-189 5 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Mothers
Mosaicism
Karyotype
Fibroblasts
1992
25 Citations (Scopus)

Effects of Differing Nicotine-Replacement Doses on Weight Gain After Smoking Cessation

Leischow, S. J., Sachs, D. P. L., Bostrom, A. G. & Hansen, M. D., Jan 1 1992, In : Archives of Family Medicine. 1, 2, p. 233-237 5 p.

Research output: Contribution to journalArticle

Smoking Cessation
Nicotine
Weight Gain

Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

Lindor, N. M., Schirger, A. & Michels, V. V., 1992, In : Dysmorphology and Clinical Genetics. 6, 4, p. 180-183 4 p.

Research output: Contribution to journalArticle

Cholestasis
Lymphedema
Natural History
Aagenaes syndrome
1 Citation (Scopus)

Trisomy 13 in a 16-year-old boy

Lindor, N. M., Karnes, P. S., Jalal, S. M., Dewald, G. W., Shaughnessy, W. J. & Michels, V. V., 1992, In : Dysmorphology and Clinical Genetics. 6, 4, p. 199-202 4 p.

Research output: Contribution to journalArticle

Survivors
Counseling
Fetus
Parents
Phenotype
24 Citations (Scopus)

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects

Lindor, N. M., Michels, V. V., Hoppe, D. A., Driscoll, D. J., Leavitt, J. A. & Dewald, G. W., 1992, In : American Journal of Medical Genetics. 44, 1, p. 61-65 5 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Microphthalmos
Skin
Syndromic 7 Microphthalmia
Sclerocornea