Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1987 1
1988 1
1990 1
1991 2
1992 2
1995 1
1997 1
1999 1
2004 1
2010 2
2015 1
2016 1
2017 1
2018 4
2019 1
2020 1
2021 1
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL, Ma XY, Zhang J, Wang JQ, Zhang TT, Ye L, Xiao Y, Dong ZY, Wang W, Sun SY, Li CY, Hu RG, Ning G, Zhang LD. Lu WL, et al. World J Pediatr. 2024 Apr;20(4):422-433. doi: 10.1007/s12519-023-00739-1. Epub 2023 Jul 24. World J Pediatr. 2024. PMID: 37486441 Free PMC article.
We examined the effects of gene mutations on protease activity and constructed three-dimensional structure prediction models of proteins. RESULTS: We describe 10 patients with 11beta-hydroxylase gene mutations (n = 5, 46,XY; n = 5, 46,XX), with 10 novel mutations were repo …
We examined the effects of gene mutations on protease activity and constructed three-dimensional structure prediction models of prote …
11 beta-hydroxylase deficiency in hyperandrogenism.
Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA. Azziz R, et al. Fertil Steril. 1991 Apr;55(4):733-41. Fertil Steril. 1991. PMID: 2009997 Free article.
RESULTS: Patients with high S measures had higher testosterone, dehydroepiandrosterone sulfate, and androstenedione levels, but similar luteinizing hormone/follicle-stimulating hormone ratios, than hyperandrogenic cohorts with no abnormal S measures. Basal values of S (S0), F0, o …
RESULTS: Patients with high S measures had higher testosterone, dehydroepiandrosterone sulfate, and androstenedione levels, but similar lute …
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI. Khattab A, et al. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1933-E1940. doi: 10.1073/pnas.1621082114. Epub 2017 Feb 22. Proc Natl Acad Sci U S A. 2017. PMID: 28228528 Free PMC article.
Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11beta-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe dis …
Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448 …
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J. Rösler A, et al. J Clin Endocrinol Metab. 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. J Clin Endocrinol Metab. 1988. PMID: 3346360
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagnosis of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia (11 beta-OH deficiency CAH) in 7 fetuses at risk. ...
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal …
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F. Baş F, et al. J Steroid Biochem Mol Biol. 2018 Jul;181:88-97. doi: 10.1016/j.jsbmb.2018.04.001. Epub 2018 Apr 4. J Steroid Biochem Mol Biol. 2018. PMID: 29626607
Pathogenic features of novel variants are investigated by the use of multiple in silico prediction tools and with family based co-segregation studies. Protein simulations were investigated for two novel coding region alterations. ...
Pathogenic features of novel variants are investigated by the use of multiple in silico prediction tools and with family based co-seg …
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
CONCLUSION: Functional analysis results allow for the classification of novel CYP11B1 mutations as causative for classic and nonclassic 11OHD, respectively. Four partially inactivating mutations are predicted to result in nonclassic 11OHD. These findings double the number …
CONCLUSION: Functional analysis results allow for the classification of novel CYP11B1 mutations as causative for classic and nonclassic 11OH …
25 results