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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 201 to 208 of 208

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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST
(1991) Cell 67: 1047-58
MeSH Terms: Alleles, Base Sequence, Exons, Fragile X Syndrome, Genes, Humans, Meiosis, Methylation, Molecular Sequence Data, Mosaicism, Oligodeoxyribonucleotides, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, Restriction Mapping, Risk Factors, X Chromosome
Added February 20, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency.
Mangklabruks A, Billerbeck AE, Wajchenberg B, Knobel M, Cox NJ, DeGroot LJ, Medeiros-Neto G
(1991) J Clin Endocrinol Metab 72: 471-6
MeSH Terms: Bacterial Proteins, DNA, DNA Restriction Enzymes, Deoxyribonucleases, Type II Site-Specific, Female, Genetic Linkage, Humans, Iodide Peroxidase, Iodides, Lod Score, Male, Pedigree, Polymorphism, Restriction Fragment Length, Thyroid Gland, Thyrotropin, Thyrotropin-Releasing Hormone, Thyroxine, Triiodothyronine
Added February 22, 2016
0 Communities
1 Members
0 Resources
18 MeSH Terms
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture.
Giro MG, Duvic M, Smith LT, Kennedy R, Rapini R, Arnett FC, Davidson JM
(1992) J Invest Dermatol 99: 129-37
MeSH Terms: Blotting, Southern, Cells, Cultured, Connective Tissue Diseases, Elastin, Female, Fibroblast Growth Factor 2, Fibroblasts, Humans, Male, Microscopy, Electron, Middle Aged, Nevus, Osteopoikilosis, Pedigree, Phenotype, RNA, Messenger, Skin, Skin Neoplasms, Syndrome, Transforming Growth Factor beta
Added December 10, 2013
0 Communities
1 Members
0 Resources
20 MeSH Terms
Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young.
Cox NJ, Xiang KS, Fajans SS, Bell GI
(1992) Diabetes 41: 401-7
MeSH Terms: Chromosome Mapping, DNA, Diabetes Mellitus, Type 2, Disease Susceptibility, Female, Genes, Genetic Markers, Humans, Male, Pedigree
Added February 22, 2016
0 Communities
1 Members
0 Resources
10 MeSH Terms
Importance sampling. I. Computing multimodel p values in linkage analysis.
Kong A, Frigge M, Irwin M, Cox N
(1992) Am J Hum Genet 51: 1413-29
MeSH Terms: Diabetes Mellitus, Type 2, Female, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Mathematics, Monte Carlo Method, Pedigree, Software
Added February 22, 2016
0 Communities
1 Members
0 Resources
11 MeSH Terms
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Linton MF, Pierotti V, Young SG
(1992) Proc Natl Acad Sci U S A 89: 11431-5
MeSH Terms: Alleles, Amino Acid Sequence, Animals, Apolipoproteins B, Base Sequence, DNA, Frameshift Mutation, Gene Expression, Genes, Humans, Hypobetalipoproteinemias, In Vitro Techniques, Molecular Sequence Data, Pedigree, RNA, Messenger, Rats, Transcription, Genetic, Tumor Cells, Cultured
Added May 27, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
Molecular basis of human hypertension: role of angiotensinogen.
Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, Hunt SC, Hopkins PN, Williams RR, Lalouel JM
(1992) Cell 71: 169-80
MeSH Terms: Adult, Analysis of Variance, Angiotensinogen, Base Sequence, Female, Genetic Linkage, Humans, Hypertension, Male, Middle Aged, Molecular Sequence Data, Paris, Pedigree, Polymorphism, Genetic, Utah
Added March 5, 2014
0 Communities
1 Members
0 Resources
15 MeSH Terms
DNA methylation represses FMR-1 transcription in fragile X syndrome.
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST
(1992) Hum Mol Genet 1: 397-400
MeSH Terms: Base Sequence, Chorionic Villi Sampling, DNA, Exons, Female, Fetus, Fragile X Mental Retardation Protein, Fragile X Syndrome, Humans, Male, Methylation, Nerve Tissue Proteins, Pedigree, Polymerase Chain Reaction, Pregnancy, RNA-Binding Proteins, Repetitive Sequences, Nucleic Acid, Restriction Mapping, Transcription, Genetic
Added February 20, 2014
0 Communities
1 Members
0 Resources
19 MeSH Terms