arginine and Disorders of Sex Development

arginine has been researched along with Disorders of Sex Development in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19901 (11.11)18.7374
1990's7 (77.78)18.2507
2000's1 (11.11)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Homoki, J; Moisan, AM; Peter, M; Schwab, KO; Simard, J1
Boudon, C; Garandeau, P; Lobaccaro, JM; Lumbroso, S; Montoya, P; Romer, TE; Sultan, C; Szarras-Czapnik, M1
Brown, TR; Kaufman, M; Pinsky, L; Punnett, HH; Shkolny, DL; Trifiro, MA1
de Zegher, F; Deloof, E; Devlieger, H; Devriendt, K; Legius, E; Moerman, P; Proesmans, W; Vanhole, C1
Amram, S; Belon, C; Bringer, J; Lobaccaro, JM; Lumbroso, S; Rodier, M; Sultan, C1
Adeyemo, O; Jänne, OA; Kallio, PJ; Kontula, K; Palvimo, JJ1
Belsham, DD; Bordet, S; Greenberg, C; Kaufman, M; Mhatre, A; Pereira, F; Pinsky, L; Prior, L; Trifiro, MA; Wrogeman, K1
Ahlgren, R; Simpson, ER; Waterman, MR; Winter, JS; Yanase, T1
Balsamo, A; Cacciari, E; Cicognani, A; Pascucci, MG; Pirazzoli, P; Tacconi, M; Tonioli, S1

Other Studies

9 other study(ies) available for arginine and Disorders of Sex Development

ArticleYear
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.
    Journal of pediatric endocrinology & metabolism : JPEM, 2005, Volume: 18, Issue:4

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Arginine; Body Height; Codon, Nonsense; Disorders of Sex Development; Estrogens; Estrogens, Conjugated (USP); Female; Growth Disorders; Heterozygote; Humans; Leucine; Mutation; Mutation, Missense; Orchiectomy; Proline; Puberty; Steroid 17-alpha-Hydroxylase

2005
Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.
    The Journal of clinical endocrinology and metabolism, 1995, Volume: 80, Issue:7

    Topics: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Adolescent; Amino Acid Sequence; Arginine; Asparagine; Base Sequence; Disorders of Sex Development; Exons; Female; France; Glutamine; Histidine; Humans; Introns; Male; Molecular Sequence Data; Open Reading Frames; Point Mutation; Poland; Serine

1995
Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families.
    Human molecular genetics, 1995, Volume: 4, Issue:4

    Topics: Amino Acid Sequence; Androgens; Arginine; Base Sequence; Cell Line; Disorders of Sex Development; DNA Primers; Humans; Leucine; Male; Molecular Sequence Data; Protein Binding; Receptors, Androgen; Syndrome; Transfection

1995
Diaphragmatic hernia in Denys-Drash syndrome.
    American journal of medical genetics, 1995, May-22, Volume: 57, Issue:1

    Topics: Animals; Arginine; Base Sequence; Chromosomes, Human, Pair 11; Disorders of Sex Development; DNA-Binding Proteins; Exons; Female; Gene Deletion; Genes, Tumor Suppressor; Gonadal Dysgenesis; Hernia, Diaphragmatic; Heterozygote; Histidine; Homozygote; Humans; Infant, Newborn; Kidney Glomerulus; Mice; Mice, Transgenic; Molecular Sequence Data; Ovary; Point Mutation; Syndrome; Transcription Factors; WT1 Proteins

1995
[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor].
    Comptes rendus des seances de la Societe de biologie et de ses filiales, 1993, Volume: 187, Issue:4

    Topics: Arginine; Disorders of Sex Development; Exons; Histidine; Humans; Male; Mutation; Receptors, Androgen; Syndrome

1993
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
    Human molecular genetics, 1993, Volume: 2, Issue:11

    Topics: Adult; Amino Acid Sequence; Animals; Arginine; Base Sequence; Cell Line; Cloning, Molecular; Codon; Disorders of Sex Development; DNA Primers; DNA-Binding Proteins; Exons; Female; Humans; Karyotyping; Male; Methionine; Molecular Sequence Data; Phenotype; Point Mutation; Polymerase Chain Reaction; Protein Biosynthesis; Receptors, Androgen; Recombinant Proteins; Transcription, Genetic; Transfection

1993
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
    American journal of human genetics, 1992, Volume: 51, Issue:1

    Topics: Adolescent; Arginine; Base Sequence; Canada; Cysteine; Deoxyribonucleases, Type II Site-Specific; Disorders of Sex Development; Female; Histidine; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction; Receptors, Androgen; Transcriptional Activation

1992
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    The Journal of clinical endocrinology and metabolism, 1992, Volume: 74, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Alleles; Amino Acid Sequence; Animals; Arginine; Base Sequence; Blotting, Southern; Cell Line; Child; Cytochrome P-450 Enzyme System; Disorders of Sex Development; DNA; Heterozygote; Humans; Leukocytes; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Proline; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Threonine; Transfection

1992
Effect of gonadectomy on growth hormone, IGF-I and sex steroids in children with complete and incomplete androgen insensitivity.
    Acta endocrinologica, 1989, Volume: 121, Issue:6

    Topics: Adolescent; Arginine; Child; Disorders of Sex Development; Estradiol; Female; Growth Hormone; Humans; Insulin-Like Growth Factor I; Male; Orchiectomy; Sleep; Somatomedins; Testosterone

1989