histidine has been researched along with Abnormalities, Multiple in 6 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (16.67) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (16.67) | 29.6817 |
| 2010's | 3 (50.00) | 24.3611 |
| 2020's | 1 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| Hurst, A; Lose, E; Mikhail, FM; Philips, JB; Stoops, C; Woodfin, T | 1 |
| Gu, YH; Kato, T; Kodama, H | 1 |
| Dingerdissen, H; Karagiannis, K; Mazumder, R; Motwani, M; Simonyan, V | 1 |
| Brown, CA; Lupski, JR; Potocki, L; Shen, JJ | 1 |
| Holmgren, G | 1 |
6 other study(ies) available for histidine and Abnormalities, Multiple
| Article | Year |
|---|---|
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 |
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 17; Comparative Genomic Hybridization; Copper-Transporting ATPases; DNA Mutational Analysis; Fatal Outcome; Genetic Testing; Histidine; Humans; Hypertension, Pulmonary; Infant, Newborn; Intellectual Disability; Male; Medical History Taking; Menkes Kinky Hair Syndrome; Mutation; Nitric Oxide; Organometallic Compounds; Pedigree; Respiratory Insufficiency | 2019 |
Congenital abnormalities in Japanese patients with Menkes disease.
Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Adolescent; Age of Onset; Asian People; Cation Transport Proteins; Child, Preschool; Copper-Transporting ATPases; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Retrospective Studies; Statistics, Nonparametric | 2012 |
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Arginine; Aspartic Acid; Carbohydrate Metabolism; Catalytic Domain; Cluster Analysis; Enzyme Activation; Genetic Variation; Genome, Human; Glycogen Storage Disease; Hearing Loss; Histidine; Humans; Lacrimal Apparatus Diseases; Metabolomics; Molecular Sequence Annotation; Phenylalanine; Polymorphism, Single Nucleotide; Proteome; Proteomics; Structure-Activity Relationship; Syndactyly; Tooth Abnormalities; Tyrosine | 2013 |
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Topics: Abnormalities, Multiple; Adolescent; Amino Acid Substitution; Arginine; Craniofacial Abnormalities; Genes, Recessive; Genotype; Histidine; Homozygote; Humans; Lamin Type A; Lipodystrophy; Male; Musculoskeletal Abnormalities; Mutation; Phenotype | 2003 |
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 |