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17 a -hydroxylase deficiency相关文献:
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Yin M, Yang J, Tian Q, Zhang X.
Front Endocrinol (Lausanne). 2022 Dec 15;13:989695. doi: 10.3389/fendo.2022.989695. eCollection 2022.
PMID:36589847
An Asian case of combined 17alpha-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
Liao Q, Shen R, Liao M, Ran C, Zhou L, Zhang Y, Peng G, Sun Z, Zheng H, Long M.
Front Endocrinol (Lausanne). 2022 Oct 19;13:989447. doi: 10.3389/fendo.2022.989447. eCollection 2022.
PMID:36339422
A rare case of 17alpha-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
Dai LZ, Ma H, Ke JF, Lin CS, Huang Y, Tian Y, Chen D.
Womens Health (Lond). 2022 Jan-Dec;18:17455057221122597. doi: 10.1177/17455057221122597.
PMID:36129002
17 alpha-Hydroxylase/17,20-lyase defects.
Yanase T.
J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y.
PMID:7626447
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):71-78. doi: 10.1016/j.jsbmb.2016.02.002. Epub 2016 Feb 6.
PMID:26862015
Endocrine profiles and cycle characteristics of infertile 17alpha-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y.
J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6.
PMID:37316894
Full-term live birth in a woman with 17alpha-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report.
Xi S, Yang X, Shan X, Xue Q.
BMC Womens Health. 2023 Aug 4;23(1):408. doi: 10.1186/s12905-023-02492-z.
PMID:37542252
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR.
J Steroid Biochem Mol Biol. 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D.
PMID:22217842
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17alpha-hydroxylase/17,20-lyase deficiency.
Yamagata S, Kageyama K, Usui T, Saito K, Takayasu S, Usutani M, Terui K, Daimon M.
Endocr J. 2022 Feb 28;69(2):115-120. doi: 10.1507/endocrj.EJ21-0266. Epub 2021 Sep 3.
PMID:34483146
17 alpha-hydroxylase deficiency in a genetic male and female sibling pair.
Sills IN, MacGillivray MH, Amrhein JA, Migeon CJ, Peterson RE.
Int J Gynaecol Obstet. 1981 Dec;19(6):473-9. doi: 10.1016/0020-7292(81)90007-2.
PMID:6121730
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