proline and Disorders of Sex Development

proline has been researched along with Disorders of Sex Development in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	1 (50.00)	18.2507
2000's	1 (50.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Homoki, J; Moisan, AM; Peter, M; Schwab, KO; Simard, J	1
Ahlgren, R; Simpson, ER; Waterman, MR; Winter, JS; Yanase, T	1

Other Studies

2 other study(ies) available for proline and Disorders of Sex Development

Article	Year
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
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

Article

Year

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

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