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■ Abbreviation / Long Form : ABS / Antley-Bixler syndrome

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Total Number of Papers: 34
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Abbreviation:   ABS  (>> Co-occurring Abbreviation)
Long Form:   Antley-Bixler syndrome
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No. Year Title Co-occurring Abbreviation
2019 Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. ---
2018 [Advance in clinical research on Antley-Bixler syndrome]. ---
2017 CytochromeP450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. 21-OHD, PCOS
2016 Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. aCGH, CGH, CNVs, SNVs
2015 Gross Motor Function of a Child With Antley-Bixler Syndrome. PT
2014 Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report. ---
2014 Pharmacogenomics of human P450 oxidoreductase. DSD
2013 Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development. cKO
2012 A case of antley-bixler syndrome. ---
10  2012 Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. DBF, WT
11  2011 Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ---
12  2010 Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. CYP3A4
13  2010 Spectrum of Antley-Bixler syndrome. ---
14  2009 A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. ACTH
15  2008 Foot anomalies in Antley-Bixler syndrome: three case reports. ---
16  2008 Regulation of P450 oxidoreductase by gonadotropins in rat ovary and its effect on estrogen production. MSCs
17  2008 [Antley-Bixler syndrome or POR deficiency?]. FAD, FGFR2, FMN
18  2007 Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ---
19  2006 Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ---
20  2006 Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. CAH
21  2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. FGFR2, NADPH
22  2005 P450 oxidoreductase deficiency: a new disorder of steroidogenesis. FGFR2
23  2004 A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency. A284P, FGFR2, GC-MS, OR, ORD
24  2004 Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. ACTH
25  2004 Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ---
26  2004 Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ---
27  2004 Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. APHD, CYB5
28  2002 Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ---
29  2001 Antley-Bixler syndrome, description of two new cases and review of the literature. IICP, VP
30  2000 Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. FGF
31  1998 Antley-Bixler syndrome: a case report and discussion. ---
32  1998 FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. FGFR2
33  1995 Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. ---
34  1988 Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. ---