Compounds > cysteine

cysteine and Abnormalities, Multiple

cysteine has been researched along with Abnormalities, Multiple in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19906 (50.00)18.7374
1990's1 (8.33)18.2507
2000's3 (25.00)29.6817
2010's1 (8.33)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Bonilla-Delgado, J; Cortés-Camacho, F; Espinosa-García, AM; García Alonso-Themann, P; Godinez-Aguilar, R; Hernández-Zavala, A; López-Ornelas, A; Moreno, J; Palacios-Reyes, C; Palma Lara, I; Pérez-Durán, J; Sanchez-Santiago, P; Serrano-Bello, CA; Ugarte-Briones, C; Victoria-Acosta, G; Villanueva-Ocampo, P; Yañez-López, MA1
Boneh, A; Ferdinandusse, S; Peters, H; Pitt, J; Ruiter, JP; Wanders, RJ1
Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM1
Brown, GK; Cotton, RG; Danks, DM; Fowler, K; Grimes, A; Hunt, SM; Mercer, JF; Rogers, JG; Scholem, R; Truscott, RM1
Cotton, RG; Danks, DM; Halpern, B; Hammond, J; Hunt, S; Malegan, D; McCairns, E; Mercer, JF; Rogers, JG; Truscott, RJ1
Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH1
Cleaver, JE; Gardner, RJ; McDowell, M; Savarirayan, R; Sinclair, RD1
Calais, C; Chaventre, A; Gayet, M; Le Caignec, C; Lefevre, M; Moisan, JP; Schott, JJ1
Beemer, FA; Brink, M; de Bree, PK; Duran, M; Korteland, J; Lombeck, I; van de Heiden, C; Wadman, SK1
Fowler, B; Law, EA1
Capotorti, L; Del Principe, D1
Matthiaschk, G1

Other Studies

12 other study(ies) available for cysteine and Abnormalities, Multiple

ArticleYear
Two Novel
    Genes, 2020, 02-20, Volume: 11, Issue:2

    Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Casein Kinase I; Cleft Palate; Cysteine; Exophthalmos; Extracellular Matrix Proteins; Family; Female; Humans; Infant, Newborn; Islets of Langerhans; Kidney; Liver; Male; Microcephaly; Mutation; Osteosclerosis; Pedigree; Phenotype; Polymorphism, Genetic

2020
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
    Molecular genetics and metabolism, 2015, Volume: 115, Issue:4

    Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Child; Cysteine; Enoyl-CoA Hydratase; Female; Fibroblasts; Glutathione; Humans; Infant; Leigh Disease; Mass Screening; Mutation; Prognosis; Thiolester Hydrolases; Valine

2015
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
    American journal of medical genetics. Part A, 2008, Mar-01, Volume: 146A, Issue:5

    Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; Infant; Male; Molecular Sequence Data; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Serine; Skin Abnormalities; Skull; Syndrome

2008
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.
    Pediatrics, 1982, Volume: 70, Issue:4

    Topics: Abnormalities, Multiple; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Consanguinity; Cysteamine; Cysteine; Enoyl-CoA Hydratase; Humans; Infant; Male; Thiolester Hydrolases; Valine

1982
Two new sulphur-containing amino acids in man.
    Biomedical mass spectrometry, 1981, Volume: 8, Issue:3

    Topics: Abnormalities, Multiple; Cysteamine; Cysteine; Gas Chromatography-Mass Spectrometry; Humans; Infant

1981
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    American journal of medical genetics, 1998, Jul-24, Volume: 78, Issue:4

    Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnormalities; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational; Radiography; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine; Translocation, Genetic; Wheelchairs

1998
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.
    Journal of medical genetics, 2000, Volume: 37, Issue:4

    Topics: Abnormalities, Multiple; Alleles; Child, Preschool; Cysteine; DNA Helicases; DNA-Binding Proteins; Drosophila Proteins; Female; Hair; Humans; Keratoderma, Palmoplantar; Mutation; Photosensitivity Disorders; Proteins; Skin Abnormalities; Transcription Factors; Xeroderma Pigmentosum Group D Protein

2000
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
    American journal of human genetics, 2002, Volume: 71, Issue:1

    Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Animals; Arcus Senilis; Base Sequence; Calcium-Binding Proteins; Cysteine; Deafness; DNA; Female; Genes, Dominant; Heart Defects, Congenital; Humans; Intercellular Signaling Peptides and Proteins; Jagged-1 Protein; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Pedigree; Protein Structure, Tertiary; Proteins; Sequence Homology, Amino Acid; Serrate-Jagged Proteins

2002
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?
    Journal of inherited metabolic disease, 1978, Volume: 1, Issue:4

    Topics: Abnormalities, Multiple; Biological Transport; Cysteine; Female; Humans; Infant, Newborn; Metal Metabolism, Inborn Errors; Molybdenum; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; Xanthine Oxidase

1978
Beta-mercaptolactate cysteine disulphiduria in a mentally retarded Scottish male.
    Journal of mental deficiency research, 1976, Volume: 20, Issue:2

    Topics: Abnormalities, Multiple; Adult; Amino Acid Metabolism, Inborn Errors; Cataract; Chromatography, Ion Exchange; Chromatography, Paper; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Cysteine; Disulfides; Genes, Recessive; Humans; Intellectual Disability; Lactates; Male; Scotland; Sulfhydryl Compounds

1976
[Functional changes in the platelets in 3 subjects with Fanconi's anemia].
    Minerva pediatrica, 1975, Mar-24, Volume: 27, Issue:10

    Topics: Abnormalities, Multiple; Anemia, Aplastic; Child; Cysteine; Fanconi Anemia; Female; Humans; Limb Deformities, Congenital; Male; Microcephaly; Pigmentation Disorders; Platelet Adhesiveness; Platelet Aggregation

1975
[Influence of L-cysteine on thiram (TMTD)-induced teratogenesis in NMRI-mice].
    Archiv fur Toxikologie, 1973, Mar-28, Volume: 30, Issue:3

    Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Administration, Oral; Animals; Anti-Infective Agents, Local; Cysteine; Dose-Response Relationship, Drug; Drug Interactions; Female; Fetus; Gestational Age; Injections, Intraperitoneal; Mice; Mice, Inbred Strains; Oils; Pregnancy; Thiocarbamates; Thiram

1973