arginine and Marfan Syndrome

arginine has been researched along with Marfan Syndrome in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (16.67)18.2507
2000's4 (66.67)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Matsumoto, N; Miyake, N; Mizuguchi, T; Nishimura, A; Saitsu, H; Sakai, H; Watanabe, Y1
Fan, W; Liang, C; Liu, Y; Wu, S1
Jiang, J; Jin, C; Shentu, X; Tang, X; Wu, R; Yao, K1
Baty, DU; Black, C; Boxer, M; Bridges, AB; Craig, A; Gray, JR; Withers, AP1
Chikumi, H; Ikebuchi, M; Kuroda, H; Nanba, E; Ohgi, S; Tanaka, Y; Yamamoto, T1
Bailey, AL; Bull, E; Dietz, HC; Earl, CD; Montgomery, RA; Toner, TJ; Youil, R1

Other Studies

6 other study(ies) available for arginine and Marfan Syndrome

ArticleYear
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
    American journal of medical genetics. Part A, 2008, Dec-01, Volume: 146A, Issue:23

    Topics: Arginine; Fathers; Glycine; Heterozygote; Humans; Male; Marfan Syndrome; Mosaicism; Mutation, Missense; Oligonucleotide Array Sequence Analysis; Protein Serine-Threonine Kinases; Receptor, Transforming Growth Factor-beta Type II; Receptors, Transforming Growth Factor beta

2008
Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
    Molecular vision, 2011, Volume: 17

    Topics: Adult; Aged; Amino Acid Substitution; Arginine; Asian People; Base Sequence; Cysteine; DNA Mutational Analysis; Ectopia Lentis; Exons; Female; Fibrillin-1; Fibrillins; Genes, Dominant; Humans; Lens, Crystalline; Male; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation

2011
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
    Molecular vision, 2007, Jul-24, Volume: 13

    Topics: Adolescent; Adult; Amino Acid Substitution; Arginine; Asian People; Base Sequence; Child; Cysteine; DNA Mutational Analysis; Ectopia Lentis; Female; Fibrillin-1; Fibrillins; Genetic Predisposition to Disease; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Mutation; Pedigree

2007
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
    Human mutation, 1998, Volume: Suppl 1

    Topics: Amino Acid Sequence; Amino Acid Substitution; Arginine; Base Sequence; Cysteine; DNA; DNA Mutational Analysis; Family Health; Female; Fibrillin-1; Fibrillins; Humans; Male; Marfan Syndrome; Microfilament Proteins; Pedigree; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational

1998
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
    Human mutation, 2000, Volume: 15, Issue:3

    Topics: Adult; Amino Acid Substitution; Arginine; Chromosomes, Human, Pair 15; Fibrillin-1; Fibrillins; Histidine; Humans; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Mutation, Missense; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational

2000
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
    Human mutation, 2000, Volume: 16, Issue:1

    Topics: Adult; Amino Acid Substitution; Arginine; Endodeoxyribonucleases; Female; Fibrillin-1; Fibrillins; Humans; Marfan Syndrome; Microfilament Proteins; Middle Aged; Mutation; Pilot Projects; Reagent Kits, Diagnostic; Single-Blind Method

2000