cysteine and Bone Diseases, Developmental

cysteine has been researched along with Bone Diseases, Developmental in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's1 (33.33)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
Flanagan, S; Glass, IA; Hayes, M; Hyland, VJ; Masel, J; Robertson, SP; Roscioli, T; Savarirayan, R1
Considine, E; Gow, P; Ladda, R; McCarron, S; McLain, D; Michels, VM; Murphy, W; Prockop, DJ; Rock, M; Williams, CJ1

Other Studies

3 other study(ies) available for cysteine and Bone Diseases, Developmental

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
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    American journal of medical genetics. Part A, 2003, Jul-15, Volume: 120A, Issue:2

    Topics: Acanthosis Nigricans; Body Height; Bone Diseases, Developmental; Chromatography, High Pressure Liquid; Cysteine; Female; Heterozygote; Humans; Hyperplasia; Middle Aged; Mosaicism; Musculoskeletal Abnormalities; Mutation, Missense; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Thanatophoric Dysplasia

2003
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
    Human molecular genetics, 1995, Volume: 4, Issue:2

    Topics: Achondroplasia; Amino Acid Sequence; Arginine; Base Composition; Base Sequence; Bone Diseases, Developmental; Cysteine; Deoxyribonucleases, Type II Site-Specific; Electrophoresis, Polyacrylamide Gel; Family Health; Female; Humans; Joint Diseases; Male; Molecular Sequence Data; Nucleic Acid Conformation; Pedigree; Point Mutation; Polymerase Chain Reaction; Procollagen; Restriction Mapping

1995