proline has been researched along with Autosomal Chromosome Disorders in 12 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 7 (58.33) | 18.7374 |
| 1990's | 3 (25.00) | 18.2507 |
| 2000's | 1 (8.33) | 29.6817 |
| 2010's | 1 (8.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Almeida, LM; Almeida, Mdo C; Barros, AS; Carreira, IM; Domingues, MR; Duarte, D; Galhano, E; Gil, AM; Martins, AS; Pinto, J; Pita, C | 1 |
| Kang, SJ; Khang, SK; Ki, CS; Kim, DW; Kim, HY; Kim, SH; Koh, SH; Sung, IH | 1 |
| RUKAVISHNIKOV, IM | 1 |
| Creel, DJ; Richards, SC | 1 |
| Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Polland, W; Ponjavic, V | 1 |
| Justice, P; Kanwar, YS; Krakower, CA; Manaligod, JR; Wong, PW | 1 |
| Berson, EL; Dryja, TP; Rosner, B; Sandberg, MA; Weigel-DiFranco, C | 1 |
| Fujita, S; Itakura, Y; Nakao, T; Oyanagi, K; Shiono, H; Tamura, Y; Tsuchiyama, A | 1 |
| Douglas, EP | 1 |
| Maniscalco, RM; Powell, GF; Rasco, MA | 1 |
| Durant, JL; Elsas, LJ; Rosenberg, LE | 1 |
| Beatty, AV; Beatty, JW | 1 |
12 other study(ies) available for proline and Autosomal Chromosome Disorders
| Article | Year |
|---|---|
Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?
Topics: Acetates; Adult; Biomarkers; Blood Glucose; Case-Control Studies; Chromosome Disorders; Citric Acid; Creatinine; Down Syndrome; Fatty Acids; Female; Humans; Ketone Bodies; Lipid Metabolism; Lipoproteins, HDL; Lipoproteins, VLDL; Magnetic Resonance Spectroscopy; Metabolome; Methanol; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Proline; Pyruvic Acid; Serum Albumin; Urea; Young Adult | 2015 |
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
Topics: Adult; Age of Onset; Amino Acid Substitution; Chromatin; Chromosome Disorders; DNA Mutational Analysis; Endothelial Cells; Female; Genes, Recessive; Genetic Markers; Genetic Predisposition to Disease; Humans; Lamin Type A; Leucine; Male; Muscle, Skeletal; Muscular Dystrophy, Emery-Dreifuss; Nuclear Envelope; Pedigree; Point Mutation; Proline | 2008 |
[ON THE RADIATION-PROTECTIVE EFFECT OF ALANINE AND PROLINE ON HEREDITARY STRUCTURES OF MAMMALIAN BONE MARROW CELLS].
Topics: Alanine; Animals; Bone Marrow; Bone Marrow Cells; Cell Nucleus; Chromosome Aberrations; Chromosome Disorders; Mice; Proline; Radiation-Protective Agents; Research | 1963 |
Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 6; Eye Proteins; Humans; Intermediate Filament Proteins; Male; Membrane Glycoproteins; Middle Aged; Mutation; Nerve Tissue Proteins; Neuropeptides; Pedigree; Peripherins; Proline; Retina; Retinal Degeneration; Retinitis Pigmentosa; Serine | 1995 |
A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Electroretinography; Exons; Eye Diseases, Hereditary; Family Health; Female; Genes, Dominant; Genetic Testing; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Proline; Retinitis Pigmentosa; Rhodopsin; Sequence Analysis, DNA; Sweden; Visual Acuity | 1997 |
Biochemical, morphological and hybrid studies in hyperprolinemic mice.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Animals; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Glycine; Humans; Hybridization, Genetic; Hydrogen-Ion Concentration; Hydroxyproline; Kidney; Liver; Mice; Mice, Inbred Strains; Mitochondria, Liver; Pedigree; Proline | 1975 |
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
Topics: Adolescent; Adult; Amino Acid Sequence; Chromosome Aberrations; Chromosome Disorders; Dark Adaptation; Electroretinography; Female; Fundus Oculi; Humans; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation; Night Blindness; Pedigree; Proline; Retinitis Pigmentosa; Rhodopsin; Visual Fields | 1991 |
Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.
Topics: Amino Acid Metabolism, Inborn Errors; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, Pair 10; Female; Humans; Infant, Newborn; Karyotyping; Liver; Proline; Proline Oxidase | 1987 |
Hyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same family.
Topics: Adult; Atrophy; Child; Choroid; Chromosome Aberrations; Chromosome Disorders; Female; Fundus Oculi; Humans; Hydroxyproline; Male; Myopia; Ornithine; Oxidoreductases Acting on CH-NH Group Donors; Proline; Proline Oxidase; Retina; Visual Acuity | 1985 |
A prolidase deficiency in man with iminopeptiduria.
Topics: Biological Assay; Child; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Dansyl Compounds; Diagnosis, Differential; Dipeptidases; Erythrocytes; Humans; Lathyrism; Leukocytes; Male; Metabolism, Inborn Errors; Peptides; Proline; Proteinuria; Renal Aminoacidurias; Syndrome; Time Factors | 1974 |
Familial iminoglycinuria. An inborn error of renal tubular transport.
Topics: Adult; Child; Chromosome Aberrations; Chromosome Disorders; Deafness; Female; Genotype; Glycine; Heterozygote; Homozygote; Humans; Hydroxyproline; Intellectual Disability; Intestinal Absorption; Kidney Function Tests; Male; Proline; Renal Tubular Transport, Inborn Errors | 1968 |
Reduction of radiation damage to Tradescantia chromosomes by adenosine triphosphate, proline, and histidine.
Topics: Adenosine Triphosphate; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Histidine; In Vitro Techniques; Plant Cells; Proline; Radiation Genetics | 1966 |