leucine has been researched along with Abnormalities, Autosome in 15 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 8 (53.33) | 18.7374 |
| 1990's | 3 (20.00) | 18.2507 |
| 2000's | 3 (20.00) | 29.6817 |
| 2010's | 1 (6.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Acquaviva, C; Caruba, C; Giudicelli, H; Khalfi, A; Moreigne, M; Pierron, S; Rolland, MO; Touati, G | 1 |
| MINTZ, B | 1 |
| Hara, K; Nishizawa, M; Onodera, O; Shimohata, T; Takado, Y; Tokiguchi, S | 1 |
| Asai, H; Furiya, Y; Hirano, M; Kiriyama, T; Shinkai, T; Tanizawa, E; Ueno, S | 1 |
| Allshire, RC; Cranston, G; Nimmo, ER | 1 |
| Collinge, J; Ellison, D; Fox, NC; Hardy, J; Harvey, RJ; Hutton, M; Roques, PK; Rossor, MN | 1 |
| de Verneuil, H; Ged, C; Herrero, C; Lecha, M; Mascaro, JM; Mendez, M; Ozalla, D | 1 |
| Berson, EL; Dryja, TP; Rosner, B; Sandberg, MA; Weigel-DiFranco, C | 1 |
| Goin, CJ; Mayer, VW | 1 |
| Bird, MT; Koestner, A; Reinglass, J; Shuttleworth, E | 1 |
| Foley, GE; Saito, M; Schachtschabel, DO; Ziliken, F | 1 |
| Barbacid, M; Carrasco, L; Vazquez, D | 1 |
| Bard, H | 1 |
| van der Horst, JL; Wadman, SK | 1 |
| Daniel, WL | 1 |
15 other study(ies) available for leucine and Abnormalities, Autosome
| Article | Year |
|---|---|
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromosome Aberrations; Combined Modality Therapy; Diet, Protein-Restricted; DNA Mutational Analysis; Exons; Genes, Recessive; Humans; Hypoglycemia; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Polymerase Chain Reaction; Rare Diseases; Sequence Analysis, DNA | 2010 |
FORMATION OF GENETICALLY MOSAIC MOUSE EMBRYOS, AND EARLY DEVELOPMENT OF "LETHAL (T12/T12)-NORMAL" MOSAICS.
Topics: Animals; Cell Biology; Chromosome Aberrations; Embryo, Mammalian; Embryo, Nonmammalian; Genetics; Leucine; Mice; Mosaicism; Mutation; Ovum; Peptide Hydrolases; Pharmacology; Proteins; Research; RNA; Temperature | 1964 |
New mutation in the non-gigantic exon of SACS in Japanese siblings.
Topics: Adult; Amino Acid Substitution; Atrophy; Cerebellum; Chromosome Aberrations; Consanguinity; Exons; Female; Gait Ataxia; Genes, Recessive; Heat-Shock Proteins; Homozygote; Humans; Leucine; Male; Middle Aged; Mutation; Phenylalanine; Sequence Analysis, DNA; Siblings | 2007 |
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts.
Topics: Adult; Astrocytes; Central Nervous System Cysts; Cephalometry; Cerebellum; Cerebral Cortex; Chromosome Aberrations; Codon; Consanguinity; Cysteine; Dementia, Vascular; DNA Mutational Analysis; Genes, Recessive; Homozygote; Humans; Leucine; Magnetic Resonance Imaging; Male; Membrane Proteins; Neurologic Examination; Organotechnetium Compounds; Serine; Tomography, Emission-Computed, Single-Photon | 2007 |
Telomere-associated chromosome breakage in fission yeast results in variegated expression of adjacent genes.
Topics: Adenine; Cell Division; Chromosome Aberrations; DNA, Recombinant; Electrophoresis, Gel, Pulsed-Field; Extrachromosomal Inheritance; Gene Expression Regulation, Fungal; Gene Rearrangement; Genes, Fungal; Leucine; Orotic Acid; RNA, Fungal; Schizosaccharomyces; Uracil | 1994 |
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Topics: Age of Onset; Alzheimer Disease; Amino Acid Substitution; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 14; Female; Genes, Dominant; Humans; Leucine; Male; Membrane Proteins; Middle Aged; Mutation; Pedigree; Presenilin-1; Retrospective Studies; Serine; Surveys and Questionnaires | 1998 |
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
Topics: Amino Acid Substitution; Child, Preschool; Chromosome Aberrations; Codon; Consanguinity; Female; Genes, Recessive; Genetic Carrier Screening; Homozygote; Humans; Leucine; Male; Mutation; Phenylalanine; Porphyria, Erythropoietic; Pregnancy; Prenatal Diagnosis; Uroporphyrinogen Decarboxylase | 2002 |
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 |
Observations on chromosome loss detection by multiple recessive marker expression in strain D61.M of Saccharomyces cerevisiae.
Topics: Adenine; Chromosome Aberrations; Cycloheximide; Ethyl Methanesulfonate; Genes, Recessive; Genetic Markers; Leucine; Mutation; Nocodazole; Recombination, Genetic; Saccharomyces cerevisiae; Selection, Genetic | 1989 |
The wobbler mouse mutant: an animal model of hereditary motor system disease.
Topics: Animals; Atrophy; Axonal Transport; Brain Stem; Chromosome Aberrations; Chromosome Disorders; Disease Models, Animal; Homozygote; Leucine; Lysosomes; Mice; Microscopy, Electron; Movement Disorders; Mutation; Nerve Tissue Proteins; Neurons; Spinal Cord; Tritium | 1971 |
Inhibition of DNA synthesis and chromosome aberrations in cultured ehrlich ascites tumor cells following treatment with luteoskyrin.
Topics: Animals; Anthraquinones; Antimetabolites; Carbon Isotopes; Carcinogens; Carcinoma, Ehrlich Tumor; Chromosome Aberrations; Culture Techniques; DNA, Neoplasm; Leucine; Lipids; Mycotoxins; Neoplasm Proteins; Penicillium; RNA, Neoplasm; Staining and Labeling; Thymidine; Uridine | 1969 |
The trichodermin group of antibiotics, inhibitors of peptide bond formation by eukaryotic ribosomes.
Topics: Anti-Bacterial Agents; Carbon Isotopes; Chromosome Aberrations; Fusarium; Humans; In Vitro Techniques; Kinetics; Leucine; Palatine Tonsil; Peptide Chain Elongation, Translational; Peptide Elongation Factors; Phenylalanine; Protein Binding; Ribosomes; RNA, Transfer; Saccharomyces cerevisiae; Terpenes; Tritium | 1973 |
Postnatal fetal and adult hemoglobin synthesis in D 1 trisomy syndrome.
Topics: Blood; Carbon Isotopes; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Fetal Hemoglobin; Gestational Age; Hemoglobins; Humans; Infant, Newborn; Leucine; Trisomy; Umbilical Cord | 1972 |
A variant form of branched-chain keto aciduria.
Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine | 1971 |
A genetic and biochemical investigation of primary microcephaly.
Topics: Adult; Blood Proteins; Chromosome Aberrations; Chromosomes, Human, 1-3; Chromosomes, Human, 16-18; Female; Humans; Leucine; Lysine; Male; Metabolism, Inborn Errors; Microcephaly; Pregnancy; Proteins | 1971 |