arginine and Polysyndactyly

arginine has been researched along with Polysyndactyly in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's2 (50.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Cao, Y; Husile, H; Wu, Q; Wu, Z; Yang, L1
Birk, OS; Langer, Y; Volodarsky, M1
Dingerdissen, H; Karagiannis, K; Mazumder, R; Motwani, M; Simonyan, V1
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y1

Other Studies

4 other study(ies) available for arginine and Polysyndactyly

ArticleYear
Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.
    BMC medical genomics, 2022, 10-04, Volume: 15, Issue:1

    Topics: Arginine; Exons; Female; Glutamine; Homeodomain Proteins; Humans; Male; Pedigree; Penetrance; Syndactyly; Transcription Factors

2022
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
    BMC medical genetics, 2014, Sep-30, Volume: 15

    Topics: Arginine; Female; Genetic Association Studies; Genetic Variation; Genotype; Histidine; Humans; Jews; Kruppel-Like Transcription Factors; Male; Morocco; Mutation, Missense; Nerve Tissue Proteins; Pedigree; Phenotype; Polydactyly; Protein Structure, Tertiary; Syndactyly; Zinc Finger Protein Gli3

2014
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
    The FEBS journal, 2013, Volume: 280, Issue:6

    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
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
    The Journal of craniofacial surgery, 2001, Volume: 12, Issue:6

    Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Exons; Female; Heterozygote; Humans; Japan; Male; Mutation; Polymerase Chain Reaction; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Serine; Syndactyly; Tryptophan

2001