arginine and Congenital Limb Deformities

arginine has been researched along with Congenital Limb Deformities in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's3 (75.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Backe, J; Baumann-Müller, A; Bembea, M; Destrée, A; Gattas, M; Grüssner, S; Kohlhase, J; Liebers, M; Michaelis, RC; Mortier, G; Müller, T; Skrypnyk, C; Wirbelauer, J; Yano, S1
Hadzsiev, K; Kellermayer, R; Kestilä, M; Kosztolányi, G; Siitonen, HA1
Aaltonen, M; Brunner, HG; Danesino, C; Duijf, P; Huoponen, K; Kjaer, KW; Kock, M; Larizza, D; Penttinen, M; Rinne, T; Savontaus, ML; Spadoni, E; van Bokhoven, H1
Freeman, T; Giles, TD; Greenberg, SS; Hua, L; Kapusta, DR; Lancaster, JR; Powers, DR; Sarphie, TG; Xie, J; Zhao, X1

Other Studies

4 other study(ies) available for arginine and Congenital Limb Deformities

ArticleYear
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
    Journal of medical genetics, 2003, Volume: 40, Issue:11

    Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Arginine; Child; Child, Preschool; Ear; Female; Humans; Incidence; Infant, Newborn; Kidney; Limb Deformities, Congenital; Male; Mutation, Missense; Nuclear Family; Transcription Factors

2003
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
    Archives of dermatology, 2005, Volume: 141, Issue:5

    Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Amino Acid Substitution; Arginine; Bone and Bones; Child; Cytosine; Diarrhea; DNA Helicases; Glutamine; Growth Disorders; Guanine; Humans; Joint Dislocations; Limb Deformities, Congenital; Male; Mutation; Mutation, Missense; Palate; Patella; Radius; RecQ Helicases; Rothmund-Thomson Syndrome; Syndrome; Thymine

2005
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
    European journal of human genetics : EJHG, 2006, Volume: 14, Issue:8

    Topics: Abnormalities, Multiple; Adult; Arginine; Child; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Humans; Limb Deformities, Congenital; Male; Middle Aged; Mutation, Missense; Phenotype; Syndrome; Tooth Abnormalities; Transcriptional Activation

2006
Effects of NO synthase inhibitors, arginine-deficient diet, and amiloride in pregnant rats.
    The American journal of physiology, 1997, Volume: 273, Issue:3 Pt 2

    Topics: Abnormalities, Drug-Induced; Amiloride; Analysis of Variance; Animals; Arginine; Female; Fetal Death; Fetal Growth Retardation; Gestational Age; Guanidines; Limb Deformities, Congenital; NG-Nitroarginine Methyl Ester; Nitrates; Nitric Oxide Synthase; Nitrites; Ornithine; Pregnancy; Pregnancy, Animal; Rats; Rats, Sprague-Dawley; Tumor Necrosis Factor-alpha

1997