MeSH term
Frequency | Condition_Probility | Adult | 47 | 0.0 |
*Codon, Nonsense | 2 | 3.0 |
Gene Expression | 4 | 0.0 |
Genetic Heterogeneity | 2 | 0.0 |
Genotype | 18 | 0.0 |
Humans | 127 | 0.0 |
Marfan Syndrome/*genetics | 42 | 77.0 |
Microfilament Proteins/deficiency/*genetics | 2 | 100.0 |
Middle Aged | 30 | 0.0 |
*Mutation, Missense | 2 | 0.0 |
Phenotype | 33 | 0.0 |
RNA, Messenger/analysis | 4 | 0.0 |
Research Support, Non-U.S. Gov't | 99 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 44 | 0.0 |
DNA Mutational Analysis/*methods | 2 | 1.0 |
Exons/genetics | 7 | 0.0 |
Gene Frequency | 6 | 0.0 |
Genetic Screening/*methods | 2 | 1.0 |
Microfilament Proteins/*genetics | 69 | 56.0 |
Mutation/*genetics | 9 | 0.0 |
Polymerase Chain Reaction | 25 | 0.0 |
Polymorphism, Genetic/*genetics | 2 | 0.0 |
Sensitivity and Specificity | 3 | 0.0 |
Adolescent | 26 | 0.0 |
Aged | 11 | 0.0 |
Child | 25 | 0.0 |
DNA Mutational Analysis/methods | 4 | 1.0 |
Diagnosis, Differential | 2 | 0.0 |
Female | 61 | 0.0 |
Male | 62 | 0.0 |
Marfan Syndrome/diagnosis/*genetics | 7 | 100.0 |
Polymorphism, Single-Stranded Conformational | 14 | 0.0 |
Child, Preschool | 21 | 0.0 |
Infant, Newborn | 17 | 0.0 |
Amino Acid Substitution/genetics | 2 | 0.0 |
Calcium-Binding Proteins/genetics | 2 | 5.0 |
DNA Mutational Analysis | 31 | 0.0 |
Infant | 12 | 0.0 |
Base Sequence | 44 | 0.0 |
DNA/chemistry/genetics | 6 | 0.0 |
Frameshift Mutation | 4 | 1.0 |
Great Britain | 3 | 1.0 |
Marfan Syndrome/*genetics/pathology | 7 | 100.0 |
Mutation | 23 | 0.0 |
Mutation, Missense | 4 | 0.0 |
Polymorphism, Genetic | 8 | 0.0 |
Heterozygote | 4 | 0.0 |
Pedigree | 25 | 0.0 |
Risk Factors | 5 | 0.0 |
Severity of Illness Index | 2 | 0.0 |
Homozygote | 3 | 0.0 |
Microfilament Proteins/genetics | 4 | 14.0 |
Sequence Analysis, DNA | 4 | 0.0 |
Animals | 21 | 0.0 |
Disease Models, Animal | 8 | 0.0 |
Protein Structure, Secondary | 3 | 0.0 |
Alternative Splicing/*genetics | 2 | 1.0 |
Amino Acid Sequence | 24 | 0.0 |
Exons/*genetics | 5 | 1.0 |
Fibroblasts | 5 | 0.0 |
Heteroduplex Analysis | 3 | 3.0 |
Molecular Sequence Data | 45 | 0.0 |
RNA, Messenger/genetics/metabolism | 2 | 0.0 |
Reverse Transcriptase Polymerase Chain Reaction | 3 | 0.0 |
Sequence Deletion | 4 | 0.0 |
*Chromosome Mapping | 3 | 0.0 |
Cohort Studies | 2 | 0.0 |
Connective Tissue Diseases/genetics | 5 | 55.0 |
Genes, Dominant | 6 | 0.0 |
Lod Score | 2 | 0.0 |
Microsatellite Repeats | 4 | 0.0 |
DNA | 2 | 0.0 |
Exons | 18 | 0.0 |
Marfan Syndrome/*genetics/physiopathology | 2 | 100.0 |
*Exons | 5 | 1.0 |
Family Health | 4 | 0.0 |
Haplotypes | 8 | 0.0 |
*Indians, North American | 2 | 6.0 |
*Polymorphism, Single Nucleotide | 2 | 0.0 |
DNA Primers | 14 | 0.0 |
Pregnancy | 2 | 0.0 |
Amino Acid Substitution | 3 | 0.0 |
Microsatellite Repeats/*genetics | 2 | 0.0 |
Point Mutation | 4 | 0.0 |
Immunohistochemistry | 7 | 0.0 |
Mice | 14 | 0.0 |
Mice, Knockout | 4 | 0.0 |
Microfibrils/metabolism | 2 | 66.0 |
Microfilament Proteins/deficiency/genetics | 2 | 100.0 |
Microscopy, Electron | 4 | 0.0 |
Codon, Nonsense | 2 | 1.0 |
Comparative Study | 13 | 0.0 |
Japan | 2 | 0.0 |
Polymorphism, Genetic/genetics | 2 | 0.0 |
Ectopia Lentis/*genetics | 5 | 100.0 |
Microfilament Proteins/*genetics/*metabolism | 4 | 50.0 |
Models, Molecular | 2 | 0.0 |
Alleles | 13 | 0.0 |
Genes, Lethal | 2 | 2.0 |
Microfilament Proteins/*genetics/ultrastructure | 2 | 100.0 |
Protein Conformation | 3 | 0.0 |
Amino Acid Substitution/*genetics | 2 | 3.0 |
Microfilament Proteins/*genetics/metabolism | 5 | 41.0 |
Mice, Transgenic | 2 | 0.0 |
Protein Structure, Tertiary | 3 | 0.0 |
English Abstract | 3 | 0.0 |
Reference Values | 3 | 0.0 |
Extracellular Matrix Proteins/*genetics | 5 | 6.0 |
Extracellular Matrix Proteins/genetics | 3 | 5.0 |
*Alleles | 4 | 0.0 |
Genetic Markers | 2 | 0.0 |
*Polymorphism, Genetic | 7 | 0.0 |
Cells, Cultured | 14 | 0.0 |
Fibroblasts/pathology | 2 | 2.0 |
*Mutation | 19 | 0.0 |
Abnormalities, Multiple/*genetics | 2 | 0.0 |
Chromosome Mapping | 13 | 0.0 |
*Chromosomes, Human, Pair 3 | 2 | 0.0 |
*Database Management Systems | 2 | 66.0 |
*Databases, Factual | 3 | 5.0 |
Genome, Human | 2 | 0.0 |
Marfan Syndrome/genetics | 13 | 76.0 |
Microfilament Proteins/chemistry/*genetics | 7 | 100.0 |
Echocardiography, Doppler, Color | 2 | 66.0 |
Fatal Outcome | 2 | 0.0 |
*Alternative Splicing | 3 | 0.0 |
*Sequence Deletion | 2 | 0.0 |
Cattle | 6 | 0.0 |
Chromosomes, Artificial, Yeast | 3 | 0.0 |
*Gene Expression Regulation | 3 | 0.0 |
Genomic Library | 2 | 0.0 |
Sequence Alignment | 2 | 0.0 |
Calcium/*metabolism | 2 | 0.0 |
Microfilaments/ultrastructure | 2 | 13.0 |
Microscopy, Immunoelectron | 3 | 0.0 |
Protein Folding | 2 | 0.0 |
Chromosomes, Human, Pair 15 | 9 | 7.0 |
Haplotypes/genetics | 2 | 0.0 |
Linkage (Genetics) | 6 | 0.0 |
Variation (Genetics) | 3 | 0.0 |
*Chromosomes, Human, Pair 15 | 10 | 4.0 |
Oklahoma/epidemiology | 2 | 40.0 |
Prevalence | 2 | 0.0 |
Scleroderma, Systemic/*ethnology/*genetics | 2 | 100.0 |
Marfan Syndrome/genetics/metabolism | 2 | 100.0 |
Nucleic Acid Conformation | 2 | 0.0 |
Genetic Screening | 3 | 0.0 |
Epidermal Growth Factor/genetics | 5 | 7.0 |
Genes, Structural/genetics | 3 | 0.0 |
Marfan Syndrome/*genetics/metabolism/pathology | 2 | 100.0 |
Extracellular Matrix Proteins/metabolism | 2 | 2.0 |
Cysteine/genetics | 2 | 1.0 |
Introns | 3 | 0.0 |
*Point Mutation | 13 | 1.0 |
Gene Library | 3 | 0.0 |
Polymorphism, Restriction Fragment Length | 3 | 0.0 |
Blotting, Northern | 3 | 0.0 |
Microfilament Proteins/biosynthesis/*genetics | 3 | 75.0 |
Transcription, Genetic | 2 | 0.0 |
Fibroblasts/metabolism | 4 | 0.0 |
DNA/genetics | 3 | 0.0 |
Skin/metabolism/pathology | 2 | 4.0 |
Epidermal Growth Factor/*genetics | 2 | 2.0 |
Polymerase Chain Reaction/methods | 4 | 0.0 |
DNA, Complementary | 3 | 0.0 |
Fluorescent Antibody Technique | 3 | 0.0 |
Glycosylation | 2 | 0.0 |
Electrophoresis, Gel, Pulsed-Field | 2 | 0.0 |
RNA, Messenger/genetics | 3 | 0.0 |
*DNA Mutational Analysis | 2 | 1.0 |
Cell Line | 3 | 0.0 |
Cysteine | 2 | 1.0 |
Body Height | 2 | 1.0 |
*Protein Processing, Post-Translational | 2 | 0.0 |
Sequence Homology, Amino Acid | 6 | 0.0 |
Calcium/metabolism | 3 | 0.0 |
Elastic Tissue/metabolism | 2 | 40.0 |
Marfan Syndrome/*genetics/metabolism | 2 | 100.0 |
Cloning, Molecular | 4 | 0.0 |
Consensus Sequence | 2 | 0.0 |
DNA, Complementary/genetics | 2 | 0.0 |
Hybrid Cells | 2 | 0.0 |
In Situ Hybridization, Fluorescence | 3 | 0.0 |
Deoxyribonucleases, Type II Site-Specific | 2 | 0.0 |
Oligonucleotides | 2 | 3.0 |
*Repetitive Sequences, Nucleic Acid | 2 | 0.0 |
Organ Specificity | 2 | 0.0 |
*Genes, Structural | 3 | 0.0 |
*Chromosomes, Human, Pair 5 | 2 | 0.0 |
Rats | 2 | 0.0 |
Binding Sites | 3 | 0.0 |
Skin/metabolism | 2 | 1.0 |
Epidermal Growth Factor/metabolism | 2 | 0.0 |
Oligodeoxyribonucleotides | 2 | 0.0 |
Repetitive Sequences, Nucleic Acid | 2 | 0.0 |
Indians, North American/*genetics | 2 | 2.0 |
Polymorphism, Single Nucleotide | 2 | 0.0 |
