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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: 1 to 10 of 12

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Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M, Urea Cycle Disorder Consortium
(2009) Hum Mutat 30: 56-60
MeSH Terms: Ammonia, Arginase, Argininosuccinate Lyase, Argininosuccinate Synthase, Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase (Ammonia), Genetic Predisposition to Disease, Genetic Variation, Humans, Hyperargininemia, Ornithine Carbamoyltransferase, Ornithine Carbamoyltransferase Deficiency Disease, Polymorphism, Single-Stranded Conformational, Urea
Added July 6, 2017
0 Communities
1 Members
0 Resources
14 MeSH Terms
Functional BSND variants in essential hypertension.
Sile S, Gillani NB, Velez DR, Vanoye CG, Yu C, Byrne LM, Gainer JV, Brown NJ, Williams SM, George AL
(2007) Am J Hypertens 20: 1176-1182
MeSH Terms: Alleles, Chloride Channels, Cohort Studies, DNA, Electrophysiology, Ethnic Groups, Gene Frequency, Genetic Variation, Ghana, Humans, Hypertension, Logistic Models, Membrane Proteins, Odds Ratio, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Population
Added December 10, 2013
0 Communities
1 Members
0 Resources
17 MeSH Terms
PIK3CA gene mutations in pediatric and adult glioblastoma multiforme.
Gallia GL, Rand V, Siu IM, Eberhart CG, James CD, Marie SK, Oba-Shinjo SM, Carlotti CG, Caballero OL, Simpson AJ, Brock MV, Massion PP, Carson BS, Riggins GJ
(2006) Mol Cancer Res 4: 709-14
MeSH Terms: Adolescent, Aged, Child, Class I Phosphatidylinositol 3-Kinases, Gene Amplification, Genetic Predisposition to Disease, Genetic Testing, Glioblastoma, Humans, Middle Aged, Mutation, Phosphatidylinositol 3-Kinases, Polymorphism, Single-Stranded Conformational, Transplantation, Heterologous
Added February 16, 2016
0 Communities
1 Members
0 Resources
14 MeSH Terms
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.
Kallianpur AR, Hall LD, Yadav M, Byrne DW, Speroff T, Dittus RS, Haines JL, Christman BW, Summar ML
(2005) Bone Marrow Transplant 35: 1155-64
MeSH Terms: Adult, Alleles, Breast Neoplasms, Carbamoyl-Phosphate Synthase (Ammonia), Female, Genetic Predisposition to Disease, Genotype, Hematologic Neoplasms, Hematopoietic Stem Cell Transplantation, Hemochromatosis, Hepatic Veno-Occlusive Disease, Humans, Iron, Male, Middle Aged, Mutation, Missense, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Prospective Studies, Risk Factors
Added March 5, 2014
0 Communities
3 Members
0 Resources
20 MeSH Terms
Ethnic diversity in a critical gene responsible for glutathione synthesis.
Willis AS, Freeman ML, Summar SR, Barr FE, Williams SM, Dawson E, Summar ML
(2003) Free Radic Biol Med 34: 72-6
MeSH Terms: Ethnic Groups, Free Radical Scavengers, Glutathione, Humans, Polymorphism, Single-Stranded Conformational
Added March 5, 2014
0 Communities
1 Members
0 Resources
5 MeSH Terms
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
Adato A, Raskin L, Petit C, Bonne-Tamir B
(2000) Eur J Hum Genet 8: 437-42
MeSH Terms: Carrier Proteins, Connexins, Consanguinity, DNA Mutational Analysis, Deafness, Female, Goiter, Humans, Israel, Male, Membrane Proteins, Membrane Transport Proteins, Pedigree, Polymorphism, Single-Stranded Conformational, Sulfate Transporters, Syndrome
Added March 5, 2014
0 Communities
1 Members
0 Resources
16 MeSH Terms
Human beta2-adrenergic receptor polymorphisms: no association with essential hypertension in black or white Americans.
Xie HG, Stein CM, Kim RB, Gainer JV, Sofowora G, Dishy V, Brown NJ, Goree RE, Haines JL, Wood AJ
(2000) Clin Pharmacol Ther 67: 670-5
MeSH Terms: Adult, African Continental Ancestry Group, Aged, Case-Control Studies, European Continental Ancestry Group, Female, Genotype, Humans, Hypertension, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Receptors, Adrenergic, beta-2
Added December 10, 2013
0 Communities
2 Members
0 Resources
14 MeSH Terms
E-Cadherin gene promoter hypermethylation in primary human gastric carcinomas.
Tamura G, Yin J, Wang S, Fleisher AS, Zou T, Abraham JM, Kong D, Smolinski KN, Wilson KT, James SP, Silverberg SG, Nishizuka S, Terashima M, Motoyama T, Meltzer SJ
(2000) J Natl Cancer Inst 92: 569-73
MeSH Terms: Blotting, Western, Cadherins, Carcinoma, Cytosine, DNA Primers, DNA, Neoplasm, Down-Regulation, Gene Expression Regulation, Neoplastic, Guanosine, Humans, Methylation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Promoter Regions, Genetic, Sequence Analysis, DNA, Stomach Neoplasms
Added March 5, 2014
0 Communities
1 Members
0 Resources
16 MeSH Terms
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST
(1998) Hum Mol Genet 7: 1935-46
MeSH Terms: Adenine Nucleotides, Alleles, Animals, Fragile X Mental Retardation Protein, Fragile X Syndrome, Gene Frequency, Genetic Markers, Guanine Nucleotides, Haplotypes, Humans, Introns, Linkage Disequilibrium, Male, Microsatellite Repeats, Nerve Tissue Proteins, Pan troglodytes, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, RNA-Binding Proteins, Trinucleotide Repeats
Added December 10, 2013
0 Communities
1 Members
0 Resources
20 MeSH Terms
Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.
Martincic D, Zimmerman SA, Ware RE, Sun MF, Whitlock JA, Gailani D
(1998) Blood 92: 3309-17
MeSH Terms: Adult, African Continental Ancestry Group, Alleles, Amino Acid Substitution, Cells, Cultured, Child, DNA Fingerprinting, DNA Mutational Analysis, Dideoxynucleosides, Dimerization, Exons, Factor XI, Factor XI Deficiency, Female, Genetic Predisposition to Disease, Hemorrhagic Disorders, Heterozygote, Humans, Male, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Recombinant Fusion Proteins
Added May 19, 2014
0 Communities
1 Members
0 Resources
22 MeSH Terms