arginine and Autosomal Chromosome Disorders

arginine has been researched along with Autosomal Chromosome Disorders in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19906 (46.15)18.7374
1990's5 (38.46)18.2507
2000's1 (7.69)29.6817
2010's1 (7.69)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
De-Ming, Y; Ding, C; Jap, TS; Kussiny, N; Levine, MA; Lietman, SA; Tenenbaum-Rakover, Y; Yi-Chi, W1
Fries, D1
Gök, F; Gökçay, E; Gül, D; Sayli, BS1
Duthel, S; Ferlinz, K; Louisot, P; Rousson, R; Sandhoff, K; Suzuki, K; Vanier, MT1
Ezquieta Zubicaray, B; González Gancedo, P; Gracia Bouthelier, R; Iguacel, AO; Jariego Fente, CM; Varela Junquera, JM1
Goto, M; Kotani, M; Mukoyama, M; Nakagawa, M; Nakao, K; Ogawa, Y; Shimatsu, A; Sugawara, A; Tanaka, I; Tanaka, K; Yahata, K1
Chen, WJ; Norton, PM; Phansalkar, SV; Sansaricq, C; Snyderman, SE1
Fishman, GA; Gilbert, LD; Kenna, P; Sheffield, VC; Stone, EM1
Burgess, EA; Oberholzer, VG; Palmer, T; Wagstaff, TI1
Kelley, VC; Ruvalcaba, RH; Thuline, HC1
Fineberg, SE; Hall, J; McKusick, VA; Merimee, TJ1
Coryell, ME; Farrow, RT; Gatz, AJ; Hall, WK; Horton, BF; Looper, JW; Sisson, BD; Thevaos, TG; Welter, DA1
Brock, KH; DeMarini, DM; Doerr, CL; Moore, MM1

Reviews

1 review(s) available for arginine and Autosomal Chromosome Disorders

ArticleYear
Thrombosis prophylaxis in critically ill patients.
    Wiener medizinische Wochenschrift (1946), 2011, Volume: 161, Issue:3-4

    Topics: Anticoagulants; Arginine; Biological Availability; Chromosome Breakage; Chromosome Disorders; Critical Care; Dose-Response Relationship, Drug; Drug Resistance; Heparin; Heparin, Low-Molecular-Weight; Hirudins; Humans; Infusions, Intravenous; Injections, Subcutaneous; Pipecolic Acids; Recombinant Proteins; Risk Factors; Sepsis; Severity of Illness Index; Shock, Septic; Sulfonamides; Thrombin; Thrombocytopenia; Venous Thrombosis

2011

Other Studies

12 other study(ies) available for arginine and Autosomal Chromosome Disorders

ArticleYear
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
    The Journal of clinical endocrinology and metabolism, 2009, Volume: 94, Issue:11

    Topics: Amino Acid Substitution; Arginine; Calcium; Cell Line; Child, Preschool; Chromosome Disorders; Exons; Female; Gene Silencing; Genes, Recessive; Glutamine; Heterozygote; Humans; Hypercalcemia; Hypercalciuria; Male; Mutation; Parathyroid Hormone; Pedigree; Receptors, Calcium-Sensing; Transfection

2009
IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY,18p-).
    Annales de genetique, 1994, Volume: 37, Issue:2

    Topics: Arginine; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 18; Developmental Disabilities; Dwarfism, Pituitary; Growth Hormone; Humans; IgA Deficiency; Insulin; Intellectual Disability; Levodopa; Male; Pituitary Function Tests; Propranolol; Sequence Deletion

1994
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
    Human genetics, 1993, Volume: 92, Issue:4

    Topics: Adolescent; Adult; Africa, Northern; Alleles; Arginine; Base Sequence; Cells, Cultured; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Codon; DNA; Fibroblasts; Humans; Infant; Molecular Sequence Data; Niemann-Pick Diseases; Oligonucleotide Probes; Point Mutation; Polymerase Chain Reaction; Prevalence; Sphingomyelin Phosphodiesterase

1993
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
    Medicina clinica, 1999, Mar-06, Volume: 112, Issue:8

    Topics: Achondroplasia; Arginine; Asparagine; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 4; Genetic Counseling; Glycine; Humans; Lysine; Osteochondrodysplasias; Phenotype; Point Mutation; Protein-Tyrosine Kinases; Receptors, Fibroblast Growth Factor; RNA, Transfer, Amino Acid-Specific; Spain

1999
Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 1999, Volume: 34, Issue:5

    Topics: Adult; Arginine; Bartter Syndrome; Carrier Proteins; Chromosome Aberrations; Chromosome Disorders; Codon; Cysteine; DNA Mutational Analysis; Electrolytes; Exons; Female; Genes, Recessive; Humans; Kidney Function Tests; Male; Mutation, Missense; Pedigree; Sodium Chloride Symporters; Symporters; Syndrome

1999
Argininemia.
    The Journal of pediatrics, 1977, Volume: 90, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Erythrocytes; Female; Genes, Recessive; Humans; Hyperargininemia; Infant; Male; Pedigree

1977
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1991, Volume: 109, Issue:10

    Topics: Adult; Arginine; Base Sequence; Chromosome Aberrations; Chromosome Disorders; Codon; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Electroretinography; Female; Fundus Oculi; Gene Expression; Genes, Dominant; Humans; Male; Middle Aged; Molecular Sequence Data; Mutagenesis; Pedigree; Phenotype; Retinitis Pigmentosa; Rhodopsin; Threonine; Visual Fields

1991
Argininosuccinic aciduria: antenatal investigations in an affected family.
    American journal of obstetrics and gynecology, 1974, Oct-15, Volume: 120, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Arginine; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Infant; Intellectual Disability; Lyases; Male; Renal Aminoacidurias; Succinates

1974
Plasma growth hormone in patients with chromosomal anomalies.
    Archives of disease in childhood, 1972, Volume: 47, Issue:252

    Topics: Adolescent; Adult; Arginine; Body Height; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Estrogens; Female; Growth Hormone; Humans; Insulin; Male; Radioimmunoassay; Sex Chromosome Aberrations; Trisomy

1972
Diabetes mellitus and sexual ateliotic dwarfism: a comparative study.
    The Journal of clinical investigation, 1970, Volume: 49, Issue:6

    Topics: Arginine; Cholesterol; Chromosome Aberrations; Chromosome Disorders; Diabetes Complications; Diabetes Mellitus; Diabetic Retinopathy; Dwarfism, Pituitary; Glucose Tolerance Test; Growth Hormone; Humans; Hyperlipidemias; Hypogonadism; Insulin; Triglycerides

1970
A familial study of a human enzyme defect, argininosuccinic aciduria.
    Biochemical and biophysical research communications, 1964, Volume: 14

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Citrulline; Humans; Molecular Biology; Succinates; Urine

1964
Mutagenicity and clastogenicity of teniposide (VM-26) in L5178Y/TK +/- -3.7.2C mouse lymphoma cells.
    Mutation research, 1987, Volume: 187, Issue:3

    Topics: Animals; Carcinogens; Chromosome Aberrations; Chromosome Disorders; Leukemia L5178; Leukemia, Experimental; Mice; Mutagenicity Tests; Mutagens; Mutation; Podophyllotoxin; Teniposide; Thymidine Kinase

1987