valine and Abnormalities, Autosome

valine has been researched along with Abnormalities, Autosome in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19903 (25.00)18.7374
1990's3 (25.00)18.2507
2000's5 (41.67)29.6817
2010's1 (8.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Boonen, S; Dubois, B; Goris, A; Hersmus, N; Lemmens, R; Matthijs, G; Race, V; Robberecht, W; Van Damme, P; Van Den Bosch, L1
Arrigo, T; Bardelli, C; Bellone, S; Bona, G; Corrado, L; Giordano, M; Godi, M; Mellone, S; Momigliano-Richiardi, P; Petri, A; Prodam, F1
Dal Cin, P; Hernandez, JM; Kuo, FC; Leon, A; Longtine, JA; Staropoli, JF1
Apter, A; Burg, M; Carmel, M; Frisch, A; Gothelf, D; Inbar, D; Korostishevsky, M; Michaelovsky, E; Steinberg, T; Weizman, A1
Finke, CM; Gangat, N; Ketterling, RP; Knudson, RA; Lasho, TL; Li, CY; Pardanani, A; Strand, J; Tefferi, A1
Eguchi, H; Hayashi, S; Kawajiri, K; Watanabe, J1
Anttinen-Klemetti, T; Landin, HH; Osterman-Golkar, S; Peltonen, K; Sorsa, M; Zorcec, V1
Akin, C; Metcalfe, DD; Scott, LM; Worobec, AS1
Bechtold, WE; Dosemeci, M; Haas, R; Hayes, RB; Li, G; O'Neill, JP; Rothman, N; Smith, MT; Swenberg, JA; Wiemels, J; Wiencke, J; Xi, L; Yao, M; Yin, S; Zhang, D; Zhang, L1
Cohen-Solal, M; Creyssel, R; Delphin, D; Gaillard, L; Rosa, J1
Blouquit, Y; Cohen-Solal, M; Creyssel, R; Gaillard, L; Garel, MC; Gibaud, A; Rosa, J; Thillet, J1
van der Horst, JL; Wadman, SK1

Reviews

1 review(s) available for valine and Abnormalities, Autosome

ArticleYear
Genetic polymorphisms of drug-metabolizing enzymes and lung cancer susceptibility.
    Pharmacogenetics, 1995, Volume: 5 Spec No

    Topics: Chromosome Aberrations; Cytochrome P-450 Enzyme System; Deoxyribonuclease HpaII; Genetic Predisposition to Disease; Genotype; Glutathione Transferase; Humans; Isoenzymes; Isoleucine; Lung Neoplasms; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Smoking; Valine

1995

Other Studies

11 other study(ies) available for valine and Abnormalities, Autosome

ArticleYear
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.
    Journal of neurology, neurosurgery, and psychiatry, 2009, Volume: 80, Issue:3

    Topics: Adult; Aged; Alleles; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Belgium; Chromosome Aberrations; Codon; DNA Mutational Analysis; DNA-Binding Proteins; Exons; Female; Genes, Dominant; Humans; Male; Methionine; Middle Aged; Pedigree; Sequence Analysis, DNA; Superoxide Dismutase; Superoxide Dismutase-1; Valine

2009
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
    The Journal of clinical endocrinology and metabolism, 2009, Volume: 94, Issue:10

    Topics: Adult; Blotting, Western; Body Height; Case-Control Studies; Chromatography, High Pressure Liquid; Chromosome Aberrations; Female; Fluorescent Antibody Technique; Genes, Recessive; Genetic Variation; Genotype; Glycine; Heterozygote; Human Growth Hormone; Humans; Italy; Male; Middle Aged; Mutation, Missense; Pedigree; Plasmids; Receptors, Neuropeptide; Receptors, Pituitary Hormone-Regulating Hormone; RNA, Messenger; Transfection; Valine

2009
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
    Leukemia research, 2011, Volume: 35, Issue:9

    Topics: Aged; Aged, 80 and over; Amino Acid Substitution; Chromosome Aberrations; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 9; Cohort Studies; Disease Progression; Female; Humans; Janus Kinase 2; Male; Middle Aged; Mutation, Missense; Phenylalanine; Recurrence; Thrombocythemia, Essential; Translocation, Genetic; Valine

2011
Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS.
    The international journal of neuropsychopharmacology, 2008, Volume: 11, Issue:3

    Topics: Adolescent; Adult; Attention Deficit Disorder with Hyperactivity; Catechol O-Methyltransferase; Child; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 22; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Methionine; Obsessive-Compulsive Disorder; Polymorphism, Single-Stranded Conformational; Valine

2008
Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates.
    European journal of haematology, 2008, Volume: 80, Issue:3

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Amino Acid Substitution; Bone Marrow Cells; Chromosome Aberrations; Disease-Free Survival; Female; Humans; Janus Kinase 2; Male; Middle Aged; Phenylalanine; Polycythemia Vera; Prognosis; Retrospective Studies; Valine

2008
Haemoglobin adducts as biomarkers of occupational exposure to 1,3-butadiene.
    Mutagenesis, 1996, Volume: 11, Issue:2

    Topics: Amino Acid Sequence; Biomarkers; Butadienes; Carcinogens; Chromosome Aberrations; Hemoglobins; Humans; International Cooperation; Mass Spectrometry; Molecular Sequence Data; Occupational Exposure; Sister Chromatid Exchange; Specimen Handling; Valine

1996
Cytogenetic abnormalities and their lack of relationship to the Asp816Val c-kit mutation in the pathogenesis of mastocytosis.
    The Journal of allergy and clinical immunology, 1998, Volume: 102, Issue:3

    Topics: Asparagine; Chromosome Aberrations; Humans; Leukocytes, Mononuclear; Mastocytosis; Point Mutation; Proto-Oncogene Proteins c-kit; Reverse Transcriptase Polymerase Chain Reaction; Valine

1998
Genotoxic markers among butadiene polymer workers in China.
    Carcinogenesis, 2000, Volume: 21, Issue:1

    Topics: Adult; Biomarkers; Butadienes; Chromosome Aberrations; Female; Glutathione Transferase; Hemoglobins; Humans; Male; Mutagens; Occupational Exposure; Sister Chromatid Exchange; Valine

2000
[Lyon hemoglobin: discovery of an abnormal hemoglobin due to deletion of aminoacids (beta 17-18 (A 14-15) lys-val equals 0)].
    Pediatrie, 1975, Volume: 30, Issue:2

    Topics: Adolescent; Amino Acid Sequence; Anemia, Hypochromic; Blood Protein Electrophoresis; Chromatography; Chromosome Aberrations; Genes, Dominant; Hemoglobinopathies; Hemoglobins, Abnormal; Humans; Kinetics; Lysine; Male; Mutation; Oxygen; Valine

1975
Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis.
    Biochimica et biophysica acta, 1974, Jun-07, Volume: 351, Issue:2

    Topics: Amino Acid Sequence; Amino Acids; Blood Protein Electrophoresis; Cellulose; Chloromercuribenzoates; Chromatography, Gas; Chromatography, Ion Exchange; Chromatography, Thin Layer; Chromosome Aberrations; Female; France; Hemoglobins, Abnormal; Humans; Lysine; Male; Microchemistry; Oxyhemoglobins; Pedigree; Peptide Fragments; Protein Binding; Trypsin; Valine

1974
A variant form of branched-chain keto aciduria.
    Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5

    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