histidine has been researched along with Syndrome in 26 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 9 (34.62) | 18.7374 |
1990's | 7 (26.92) | 18.2507 |
2000's | 4 (15.38) | 29.6817 |
2010's | 2 (7.69) | 24.3611 |
2020's | 4 (15.38) | 2.80 |
Authors | Studies |
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Abdul-Rahman, OA; Almpani, K; Antony, JH; Barry, BJ; Brewer, C; Chan, WM; Collins, FS; Delaney, A; Engle, EC; Facio, FM; FitzGibbon, EJ; Hunter, DG; Jabs, EW; King, KA; Kvarnung, M; Larsen, DA; Lee, JS; Lee, PR; Lehky, TJ; Ma, A; Maarup, TJ; MacKinnon, S; Manoli, I; Moller, HU; Paul, SM; Ragnhild, G; Robson, CD; Tham, E; Thurm, A; Toro, C; Troedson, C; Van Ryzin, C; Webb, BD; Whitman, MC; Wirgenes, KV; Zalewski, C | 1 |
AlAbdi, L; Alkuraya, FS; Alnemer, M; Brinkmann, U; Egense, A; Eriksson, LA; Grimsrud, K; Hörberg, J; Krier, J; Lanoue, L; Lloyd, K; Mayer, K; Monaghan, KG; Rauen, KA; Schaffrath, R; Shankar, PR; Shankar, SP; Stoler, J; Ütkür, K; Willis, B | 1 |
Brinkmann, U; Khan, M; Manivannan, T; Mayer, K; Schaffrath, R; Ütkür, K | 1 |
Brinkmann, U; Hawer, H; Kung, A; Malhotra, A; Mayer, K; Mendelsohn, BA; Schaffrath, R; Schleit, J; Tuupanen, S | 1 |
Araiz, JJ; Arenas, J; Bernal, V; Campillo, A; Fuentes-Broto, L; García, JJ; García-Gil, FA; Güemes, A; Royo, P; Serrano, MT; Simón, MA; Sostres, C | 1 |
Liyasova, MS; Lockridge, O; Schopfer, LM | 1 |
Honjo, T; Mizutani, S; Morio, T; Muramatsu, M; Nonoyama, S; Zhu, Y | 1 |
Liu, J; Wang, J; Zhang, Q | 1 |
de Zegher, F; Deloof, E; Devlieger, H; Devriendt, K; Legius, E; Moerman, P; Proesmans, W; Vanhole, C | 1 |
Amram, S; Belon, C; Bringer, J; Lobaccaro, JM; Lumbroso, S; Rodier, M; Sultan, C | 1 |
Fujino, T; Hirama, Y; Shinriki, N; Uedaira, H | 1 |
Haji, M; Hasegawa, T; Imasaki, K; Nawata, H; Okabe, T; Sakai, Y; Takayanagi, R | 1 |
Couton, JM; Richards, NG; Silverman, DN; Tu, C; Van Heeke, G | 1 |
Abe, S; Hoshino, T; Isoda, H; Iwasaki, S; Usami , S; Watanabe, T | 1 |
Furuhashi, A; Miura, Y; Mori, N; Murakami, H; Naganawa, S; Nakashima, T; Nakayama, A; Sato, E; Tadokoro, M | 1 |
Bulfield, G | 1 |
Halliday, D; McKeran, RO; Purkiss, P; Royston, P | 1 |
Fukuda, S; Jones, M; Kopple, JD; Swendseid, ME | 1 |
Bronzert, DA; Henkin, RI; Patten, BM; Re, PK | 1 |
Frens, DB; Jacobson, DM; Johnson, R | 1 |
Johnson, TM; Sly, WS; Tashian, RE; Venta, PJ; Welty, RJ | 1 |
Appleton, RE; Chitayat, D; Hall, JG; Jan, JE; Kennedy, R | 1 |
Al Halnak, A; Dubertret, L; Morliere, P; Nordmann, Y; Santus, R | 1 |
Holmgren, G | 1 |
Holmgren, G; Nordström, S; Thorburn, W | 1 |
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M | 1 |
1 review(s) available for histidine and Syndrome
Article | Year |
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Nutrition and animal models of inherited metabolic disease.
Topics: Acatalasia; Amino Acid Metabolism, Inborn Errors; Anemia; Animals; Diabetes Mellitus; Disease Models, Animal; Enzymes; Female; Glycogen Storage Disease Type VIII; Histidine; Humans; Hyperlipidemias; Metabolism, Inborn Errors; Mice; Mutation; Nervous System Diseases; Nutritional Physiological Phenomena; Obesity; Parabiosis; Pregnancy; Syndrome | 1977 |
1 trial(s) available for histidine and Syndrome
Article | Year |
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Celsior versus University of Wisconsin preserving solutions for liver transplantation: postreperfusion syndrome and outcome of a 5-year prospective randomized controlled study.
Topics: Adenosine; Adolescent; Adult; Aged; Allopurinol; Disaccharides; Electrolytes; Female; Follow-Up Studies; Glutamates; Glutathione; Histidine; Humans; Insulin; Liver Transplantation; Male; Mannitol; Middle Aged; Organ Preservation; Organ Preservation Solutions; Postoperative Complications; Prospective Studies; Raffinose; Reperfusion Injury; Syndrome; Time Factors; Young Adult | 2011 |
24 other study(ies) available for histidine and Syndrome
Article | Year |
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Facial Paralysis; Female; Fibrosis; Histidine; Humans; Infant; Male; Mutation; Ophthalmoplegia; Peripheral Nervous System Diseases; Syndrome; Tubulin; Young Adult | 2021 |
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Topics: Adenosine Diphosphate; Animals; Histidine; Humans; Methyltransferases; Mice; Mice, Inbred C57BL; Neurodevelopmental Disorders; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Syndrome | 2022 |
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
Topics: Alleles; Animals; Histidine; Humans; Inheritance Patterns; Mammals; Methyltransferases; Minor Histocompatibility Antigens; Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Syndrome; Tumor Suppressor Proteins | 2023 |
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Topics: Cell Line; Developmental Disabilities; Heart Defects, Congenital; Histidine; Humans; Infant; Loss of Function Mutation; Male; Megalencephaly; Proteins; Ribosomes; Saccharomyces cerevisiae; Syndrome | 2020 |
Cresyl saligenin phosphate makes multiple adducts on free histidine, but does not form an adduct on histidine 438 of human butyrylcholinesterase.
Topics: Aerospace Medicine; Aircraft; Butyrylcholinesterase; Catalytic Domain; Cholinesterase Inhibitors; Fuel Oils; Histidine; Humans; Organophosphorus Compounds; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Syndrome | 2013 |
Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.
Topics: Adult; Arginine; B-Lymphocytes; CD40 Ligand; Child, Preschool; Consanguinity; Cytidine Deaminase; DNA Mutational Analysis; Female; Histidine; Humans; Hypergammaglobulinemia; Immunoglobulin Class Switching; Immunoglobulin M; Infant; Japan; Male; Middle Aged; Mutation; Siblings; Somatic Hypermutation, Immunoglobulin; Syndrome | 2003 |
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Topics: Asian People; Blepharophimosis; Blepharoptosis; Cysteine; Cytosine; Eye Abnormalities; Eyelids; Forkhead Box Protein L2; Forkhead Transcription Factors; Guanine; Heterozygote; Histidine; Humans; Mutation; Mutation, Missense; Polymorphism, Single-Stranded Conformational; Serine; Syndrome; Thymine; Tyrosine | 2007 |
Diaphragmatic hernia in Denys-Drash syndrome.
Topics: Animals; Arginine; Base Sequence; Chromosomes, Human, Pair 11; Disorders of Sex Development; DNA-Binding Proteins; Exons; Female; Gene Deletion; Genes, Tumor Suppressor; Gonadal Dysgenesis; Hernia, Diaphragmatic; Heterozygote; Histidine; Homozygote; Humans; Infant, Newborn; Kidney Glomerulus; Mice; Mice, Transgenic; Molecular Sequence Data; Ovary; Point Mutation; Syndrome; Transcription Factors; WT1 Proteins | 1995 |
[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor].
Topics: Arginine; Disorders of Sex Development; Exons; Histidine; Humans; Male; Mutation; Receptors, Androgen; Syndrome | 1993 |
1H-NMR spectroscopic analysis of human urine: periodic variation of trimethylamine oxide excretion.
Topics: Adult; Creatinine; Female; Histidine; Humans; Hydrogen; Hydrogen-Ion Concentration; Magnetic Resonance Spectroscopy; Methylamines; Oxidants; Periodicity; Syndrome; Urine | 1993 |
Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
Topics: Androgen-Insensitivity Syndrome; Androgens; Arginine; Base Sequence; Cells, Cultured; Child, Preschool; DNA; Exons; Female; Fibroblasts; Histidine; Hot Temperature; Humans; Infant; Male; Molecular Sequence Data; Pedigree; Point Mutation; Receptors, Androgen; Restriction Mapping; Syndrome | 1994 |
Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
Topics: Animals; Base Sequence; Carbonic Anhydrases; Catalysis; Cattle; Cloning, Molecular; DNA; Escherichia coli; Histidine; Humans; Hydrogen-Ion Concentration; Kinetics; Models, Molecular; Molecular Sequence Data; Mutation; Protein Conformation; Syndrome; Tyrosine | 1993 |
Long-term audiological feature in Pendred syndrome caused by PDS mutation.
Topics: Adult; Arginine; Biological Transport; Carrier Proteins; Chromosomes, Human, Pair 7; Disease Progression; DNA Mutational Analysis; Evoked Potentials, Auditory, Brain Stem; Female; Goiter; Hearing Loss, Sensorineural; Histidine; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Mutation, Missense; Sulfate Transporters; Syndrome; Time Factors; Vestibular Aqueduct | 2001 |
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.
Topics: Adolescent; Adult; Alleles; Amino Acid Substitution; Arginine; Carrier Proteins; Child; Endolymphatic Duct; Endolymphatic Sac; Female; Goiter; Hearing Loss, Sensorineural; Heterozygote; Histidine; Homozygote; Humans; Iodides; Iodine; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Mutation, Missense; Phenotype; RNA Splicing; Sequence Analysis, DNA; Sulfate Transporters; Syndrome; Thyroglobulin; Vestibular Aqueduct | 2001 |
3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease.
Topics: Histidine; Humans; Hyperthyroidism; Methylhistidines; Muscle Proteins; Muscular Dystrophies; Myofibrils; Myositis; Myotonic Dystrophy; Neuromuscular Diseases; Syndrome | 1979 |
Amino acid and protein metabolism in renal failure.
Topics: Amino Acids; Dietary Proteins; Histidine; Hormones; Humans; Kidney; Kidney Failure, Chronic; Male; Phenylalanine; Proteins; Renal Dialysis; Syndrome; Toxins, Biological; Uremia | 1978 |
A syndrome of acute zinc loss. Cerebellar dysfunction, mental changes, anorexia, and taste and smell dysfunction.
Topics: Adult; Anorexia; Cerebellar Diseases; Child; Female; Histidine; Humans; Mental Disorders; Metabolic Diseases; Middle Aged; Olfaction Disorders; Scleroderma, Systemic; Syndrome; Taste Disorders; Zinc | 1975 |
Joubert's syndrome, ocular fibrosis, and normal histidine levels.
Topics: Cerebellum; Female; Fibrosis; Histidine; Humans; Infant; Magnetic Resonance Imaging; Nystagmus, Pathologic; Retinal Degeneration; Strabismus; Syndrome | 1992 |
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
Topics: Base Sequence; Blotting, Western; Carbonic Anhydrases; Cloning, Molecular; Deoxyribonucleotides; DNA; DNA Mutational Analysis; Histidine; Humans; Hydrogen Bonding; Male; Molecular Sequence Data; Mutagenesis; Mutation; Restriction Mapping; Syndrome | 1991 |
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.
Topics: Ataxia; Cerebellum; Developmental Disabilities; Female; Fibrosis; Histidine; Humans; Infant; Muscular Diseases; Oculomotor Muscles; Psychomotor Performance; Respiration Disorders; Syndrome; Tomography, X-Ray Computed | 1989 |
Depletion of histidine and tryptophan serum levels in porphyria cutanea tarda and congenital erythropoietic porphyria patients after irradiation with visible light.
Topics: Blood; Erythropoiesis; Female; Histidine; Humans; In Vitro Techniques; Light; Male; Photosensitivity Disorders; Porphyrias; Skin Diseases; Syndrome; Tryptophan | 1986 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glycosaminoglycans; Histidine; Homocystinuria; Humans; Intellectual Disability; Lysine; Male; Mass Screening; Phenylketonurias; Renal Aminoacidurias; Sweden; Syndrome | 1973 |
Urinary metabolic studies in hereditary macular degeneration.
Topics: Albuminuria; Amino Acids; Carbohydrates; Cystinuria; Electrophoresis, Paper; Female; Glycosuria; Histidine; Humans; Keto Acids; Male; Pedigree; Phenylketonurias; Retinal Degeneration; Syndrome; Tyrosine | 1974 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine | 1973 |