arginine and Achondroplasia

arginine has been researched along with Achondroplasia in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19901 (14.29)18.7374
1990's3 (42.86)18.2507
2000's3 (42.86)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Stratbucker, WB1
Fryns, JE; Van Esch, H1
Considine, E; Gow, P; Ladda, R; McCarron, S; McLain, D; Michels, VM; Murphy, W; Prockop, DJ; Rock, M; Williams, CJ1
Bellus, GA; Francomano, CA; Hecht, JT; Hefferon, TW; Horton, WA; Kaitila, I; Machado, M; McIntosh, I; Ortiz de Luna, RI1
Ezquieta Zubicaray, B; González Gancedo, P; Gracia Bouthelier, R; Iguacel, AO; Jariego Fente, CM; Varela Junquera, JM1
Braga, S; Rüdeberg, A; Sobetzko, D; Superti-Furga, A1
Cacciari, E; Cicognani, A; Miano, A; Pirazzoli, P; Tassoni, P1

Other Studies

7 other study(ies) available for arginine and Achondroplasia

ArticleYear
In brief: Achondroplasia.
    Pediatrics in review, 2009, Volume: 30, Issue:3

    Topics: Achondroplasia; Amino Acid Substitution; Arginine; Female; Genes, Dominant; Glycine; Humans; Incidence; Infant; Life Expectancy; Mutation; Pregnancy; Prenatal Diagnosis; Receptor, Fibroblast Growth Factor, Type 3

2009
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
    Genetic counseling (Geneva, Switzerland), 2004, Volume: 15, Issue:3

    Topics: Acanthosis Nigricans; Achondroplasia; Arginine; Child; DNA Mutational Analysis; Glycine; Humans; Male; Point Mutation; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

2004
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
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
    American journal of human genetics, 1995, Volume: 56, Issue:2

    Topics: Achondroplasia; Amino Acid Sequence; Arginine; Base Sequence; Fibroblast Growth Factors; Glycine; Humans; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA

1995
[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
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
    Journal of medical genetics, 2000, Volume: 37, Issue:12

    Topics: Achondroplasia; Adenine; Adult; Amino Acid Substitution; Arginine; Child; Female; Glycine; Guanine; Haplotypes; Humans; Male; Nuclear Family; Pedigree; Point Mutation; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

2000
[Somatotropinemia after administration of insulin and arginine in some pathological conditions].
    La Clinica pediatrica, 1970, Volume: 52, Issue:5

    Topics: Achondroplasia; Arginine; Child; Child, Preschool; Diabetes Mellitus, Type 1; Endocrine System Diseases; Female; Growth Hormone; Humans; Hypopituitarism; Hypothyroidism; Insulin; Male; Obesity; Turner Syndrome

1970