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Quoted phrase not found in phrase index: "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
Page 1
Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.
Guo X, Zhang Y, Yu Y, Zhang L, Ullah K, Ji M, Jin B, Shu J. Guo X, et al. Front Endocrinol (Lausanne). 2022 Aug 31;13:982953. doi: 10.3389/fendo.2022.982953. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36120452 Free PMC article.
Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to genitalia abnormalities, anovulation, unreceptive endometrium and metabolic disturbances. ... …
Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worr …
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ. 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. J Steroid Biochem Mol Biol. 2017. PMID: 26862015 Free PMC article. Review.
Steroid 17-hydroxylase 17,20-lyase (cytochrome P450c17, P450 17A1, CYP17A1) catalyzes two major reactions: steroid 17-hydroxylation followed by the 17,20-lyase reactions. ...Rare missense CYP17A1 mutations minimally disrupt 17-hydroxylase activity but cause isolated …
Steroid 17-hydroxylase 17,20-lyase (cytochrome P450c17, P450 17A1, CYP17A1) catalyzes two major reactions: steroid 17-hydroxyl …
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Horvat S, McWhir J, Rozman D. Horvat S, et al. Drug Metab Rev. 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. Drug Metab Rev. 2011. PMID: 21247357 Review.
Generally, the sooner a gene acts in cholesterol synthesis, the earlier the phenotype occurs. Humans with loss of function of early cholesterogenic enzymes have not yet been described, and in the mouse, loss of Hmgcr is preimplantation lethal. ...Fungal CYP51 inhibitor azo …
Generally, the sooner a gene acts in cholesterol synthesis, the earlier the phenotype occurs. Humans with loss of function of early c …
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W. Idkowiak J, et al. J Clin Endocrinol Metab. 2011 Mar;96(3):E453-62. doi: 10.1210/jc.2010-1607. Epub 2010 Dec 29. J Clin Endocrinol Metab. 2011. PMID: 21190981 Free PMC article.
CONTEXT: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17alpha-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal …
CONTEXT: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes i …
Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A. Gençay I, et al. J Craniofac Surg. 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. J Craniofac Surg. 2013. PMID: 23348324
Antley-Bixler syndrome is an autosomal recessive disorder characterized by multiple bone and cartilaginous abnormalities. ...In this report, we describe the anesthesia management of a 20-year-old Antley-Bixler syndrome patient who underwe …
Antley-Bixler syndrome is an autosomal recessive disorder characterized by multiple bone and cartilaginous abnormalitie …
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.
Lopez-Rangel E, Van Allen MI. Lopez-Rangel E, et al. Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):919-23. doi: 10.1002/bdra.20189. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16265639
At birth the infant had seizures related to neonatal abstinence syndrome and was noted to have multiple congenital anomalies. On examination at age 9 months, he had craniosynostosis secondary to coronal and lambdoidal suture closures, shallow orbital region, hypopla …
At birth the infant had seizures related to neonatal abstinence syndrome and was noted to have multiple congenital anomalies. …
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM. Reardon W, et al. J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. J Med Genet. 2000. PMID: 10633130 Free PMC article.
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. ...These findings, suggesting that some cases of Antley-Bixler syndrome are the outcome of two distinct genetic events, allow a hypothesis to be form …
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. ...These findings, suggesting …
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M, Asakura Y, Tachibana K, Shackleton C. Adachi M, et al. Pediatr Int. 2004 Oct;46(5):583-9. doi: 10.1111/j.1442-200x.2004.01960.x. Pediatr Int. 2004. PMID: 15491389
BACKGROUND: Antley-Bixler syndrome (ABS) is characterized mainly by abnormal skeletal morphogenesis such as craniosynostosis and radiohumeral synostosis, and by ambiguous genitalia in some cases. ...CONCLUSION: Combined decreased 17alpha-hydroxylation, 17,20- …
BACKGROUND: Antley-Bixler syndrome (ABS) is characterized mainly by abnormal skeletal morphogenesis such as craniosynos …