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lysine and Chondrodystrophic Myotonia

lysine has been researched along with Chondrodystrophic Myotonia in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (40.00)18.2507
2000's3 (60.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Alonso, A; Alvarez, A; Barreiro, J; Cabanas, P; Castro-Feijóo, L; Domínguez, F; Loidi, L; Parajes, S; Pombo, M; Rosón, E; Vidal, A1
Abukawa, D; Endoh, M; Hama, A; Hayasaka, K; Igarashi, Y; Ito, E; Kanai, M; Kanno, M; Kawakami, T; Mitsui, T; Noro, M; Sendo, D; Shirahata, E; Tono, C; Tsuchiya, S1
Aftimos, S; Kannu, P1
Ezquieta Zubicaray, B; González Gancedo, P; Gracia Bouthelier, R; Iguacel, AO; Jariego Fente, CM; Varela Junquera, JM1
Bamshad, MJ; Bellus, GA; Curry, CJ; Dorst, J; Francomano, CA; Hurko, O; Jabs, EW; Lachman, RS; Lee, RR; Przylepa, KA; Rimoin, DL; Wilcox, WR1

Other Studies

5 other study(ies) available for lysine and Chondrodystrophic Myotonia

ArticleYear
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
    European journal of endocrinology, 2008, Volume: 159, Issue:3

    Topics: Acanthosis Nigricans; Adolescent; Amino Acid Substitution; Base Sequence; Body Height; DNA Mutational Analysis; Humans; Lysine; Male; Mutation, Missense; Osteochondrodysplasias; Pedigree; Polymorphism, Single Nucleotide; Receptor, Fibroblast Growth Factor, Type 3; Syndrome; Threonine

2008
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
    The Tohoku journal of experimental medicine, 2005, Volume: 206, Issue:3

    Topics: Base Sequence; Bone and Bones; Bone Marrow Diseases; Child; Child, Preschool; Chromosomes; DNA; DNA Mutational Analysis; DNA Primers; Exocrine Pancreatic Insufficiency; Exons; Female; Frameshift Mutation; Gene Deletion; Genetic Variation; Heterozygote; Humans; Infant; Infant, Newborn; Introns; Japan; Karyotyping; Lysine; Male; Molecular Sequence Data; Mutation; Oligonucleotides; Osteochondrodysplasias; Phenotype; Polymerase Chain Reaction; Proteins; RNA, Messenger; Syndrome

2005
FGFR3 mutations and medial temporal lobe dysgenesis.
    Journal of child neurology, 2007, Volume: 22, Issue:2

    Topics: Asparagine; Child, Preschool; Humans; Lysine; Magnetic Resonance Imaging; Male; Mutation; Osteochondrodysplasias; Receptor, Fibroblast Growth Factor, Type 3; Temporal Lobe

2007
[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
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
    American journal of medical genetics, 1999, Jul-02, Volume: 85, Issue:1

    Topics: Acanthosis Nigricans; Developmental Disabilities; Female; Humans; Infant, Newborn; Lysine; Male; Methionine; Osteochondrodysplasias; Phenotype; Point Mutation; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Skull

1999