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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: 11 to 20 of 208

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP
(2017) Invest Ophthalmol Vis Sci 58: 2774-2784
MeSH Terms: Adult, Aged, Arrestin, DNA Mutational Analysis, Exons, Female, Genes, Dominant, High-Throughput Nucleotide Sequencing, Hispanic or Latino, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Retina, Retinitis Pigmentosa, Southwestern United States
Added March 14, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
Mathematical models of cell phenotype regulation and reprogramming: Make cancer cells sensitive again!
Wooten DJ, Quaranta V
(2017) Biochim Biophys Acta Rev Cancer 1867: 167-175
MeSH Terms: Adaptation, Physiological, Animals, Antineoplastic Agents, Biomarkers, Tumor, Cell Transformation, Neoplastic, Cellular Reprogramming, Drug Resistance, Neoplasm, Epigenesis, Genetic, Evolution, Molecular, Gene Expression Regulation, Neoplastic, Genetic Fitness, Genetic Predisposition to Disease, Heredity, Humans, Models, Genetic, Mutation, Neoplasms, Pedigree, Phenotype, Signal Transduction, Time Factors
Added May 5, 2017
1 Communities
1 Members
0 Resources
21 MeSH Terms
Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.
He KY, Wang H, Cade BE, Nandakumar P, Giri A, Ware EB, Haessler J, Liang J, Smith JA, Franceschini N, Le TH, Kooperberg C, Edwards TL, Kardia SL, Lin X, Chakravarti A, Redline S, Zhu X
(2017) PLoS Genet 13: e1006678
MeSH Terms: Adult, Blood Pressure, Body Mass Index, Chromosomes, Human, Pair 16, Family Health, Female, Gene Expression, Gene Frequency, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Pedigree, Polymorphism, Single Nucleotide, RNA Splicing Factors, Whites
Added April 26, 2017
0 Communities
1 Members
0 Resources
19 MeSH Terms
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF
(2016) Hum Mol Genet 25: 1031-41
MeSH Terms: Bayes Theorem, Child, DNA, Mitochondrial, Female, Humans, Inheritance Patterns, Mitochondrial Diseases, Models, Genetic, Pedigree, Phenotype, Point Mutation, Polymorphism, Restriction Fragment Length, Publication Bias
Added February 15, 2016
0 Communities
1 Members
0 Resources
13 MeSH Terms
Sex-Specific Parental Effects on Offspring Lipid Levels.
Predazzi IM, Sobota RS, Sanna S, Bush WS, Bartlett J, Lilley JS, Linton MF, Schlessinger D, Cucca F, Fazio S, Williams SM
(2015) J Am Heart Assoc 4:
MeSH Terms: Adult, Adult Children, Biomarkers, Cholesterol, Cholesterol, HDL, Cholesterol, LDL, Dyslipidemias, Fathers, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Heredity, Humans, Italy, Lipid Metabolism, Lipids, Male, Massachusetts, Middle Aged, Models, Biological, Mothers, Pedigree, Phenotype, Risk Factors, Sex Factors, Triglycerides
Added April 10, 2018
0 Communities
1 Members
0 Resources
MeSH Terms
Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data.
Li B, Wei Q, Zhan X, Zhong X, Chen W, Li C, Haines J
(2015) PLoS Genet 11: e1005271
MeSH Terms: Algorithms, Family, Gene Frequency, Genome, Human, Genotype, Humans, Models, Genetic, Pedigree, Sequence Analysis, DNA
Added February 15, 2016
0 Communities
2 Members
0 Resources
9 MeSH Terms
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R, Fahiminiya S, Majewski J, Care4Rare Canada Consortium, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F
(2015) Am J Hum Genet 96: 979-85
MeSH Terms: Amino Acid Sequence, Base Sequence, Collagen Type I, Electrophoresis, Polyacrylamide Gel, Exome, Female, Genes, Recessive, Humans, Immunoblotting, Models, Molecular, Molecular Sequence Data, Mutagenesis, Site-Directed, Mutation, Missense, Osteogenesis Imperfecta, Osteonectin, Pedigree, Protein Conformation, Sequence Alignment, Sequence Analysis, DNA
Added November 2, 2017
0 Communities
1 Members
0 Resources
19 MeSH Terms
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura.
Blicher JU, Tietze A, Donahue MJ, Smith SA, Østergaard L
(2016) Cephalalgia 36: 279-83
MeSH Terms: Adult, Cerebrovascular Circulation, Humans, Hydrogen-Ion Concentration, Image Interpretation, Computer-Assisted, Magnetic Resonance Imaging, Male, Migraine with Aura, Mutation, Pedigree, Sodium-Potassium-Exchanging ATPase
Added February 16, 2016
0 Communities
1 Members
0 Resources
11 MeSH Terms
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C, Hunley TE, Guo Y, Cortez D
(2015) Am J Med Genet A 167A: 2260-4
MeSH Terms: Arteriosclerosis, Child, DNA Helicases, DNA Replication, Exons, Female, Gene Expression, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Introns, Lymphocytes, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Pedigree, Primary Immunodeficiency Diseases, Pulmonary Embolism, RNA Splice Sites
Added February 4, 2016
0 Communities
2 Members
0 Resources
19 MeSH Terms
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L, UK10K Consortium, Jamshidi Y
(2015) Cardiovasc Res 106: 520-9
MeSH Terms: Action Potentials, Adult, Aged, Brugada Syndrome, Case-Control Studies, Cell Line, Computational Biology, DNA Mutational Analysis, Databases, Genetic, Europe, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Heredity, Humans, Male, Middle Aged, NAV1.8 Voltage-Gated Sodium Channel, Odds Ratio, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Saudi Arabia, Transfection, United States
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms