arginine and Dwarfism, Thanatophoric

arginine has been researched along with Dwarfism, Thanatophoric in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (66.67)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bonaventure, J; Freisinger, P; Nerlich, AG1
Baffico, M; Baldi, M; Camera, G; Pozzolo, S1
Kruczek, A; Kruczek, P; Mitkowska, Z; Pietrzyk, JJ1

Other Studies

3 other study(ies) available for arginine and Dwarfism, Thanatophoric

ArticleYear
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
    American journal of medical genetics, 1996, May-03, Volume: 63, Issue:1

    Topics: Adult; Arginine; Bone and Bones; Cartilage; Cysteine; Diagnosis, Differential; Female; Fetus; Genetic Variation; Gestational Age; Humans; Infant, Newborn; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pregnancy; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia; Tyrosine

1996
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
    American journal of medical genetics, 1997, Jul-11, Volume: 71, Issue:1

    Topics: Arginine; Cystine; Fetus; Gestational Age; Humans; Mutation; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia

1997
[Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
    Przeglad lekarski, 2002, Volume: 59 Suppl 1

    Topics: Arginine; Cysteine; DNA Mutational Analysis; Fatal Outcome; Hospitalization; Humans; Infant, Newborn; Male; Point Mutation; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia

2002