BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 23345044)

  • 1. Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
    Abbaszadegan MR; Hassani S; Vakili R; Saberi MR; Baradaran-Heravi A; A'rabi A; Hashemipour M; Razzaghi-Azar M; Moaven O; Baratian A; Ahadian M; Keify F; Meurice N
    Endocrine; 2013 Aug; 44(1):212-9. PubMed ID: 23345044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
    Menabò S; Polat S; Baldazzi L; Kulle AE; Holterhus PM; Grötzinger J; Fanelli F; Balsamo A; Riepe FG
    Eur J Hum Genet; 2014 May; 22(5):610-6. PubMed ID: 24022297
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
    Nguyen HH; Eiden-Plach A; Hannemann F; Malunowicz EM; Hartmann MF; Wudy SA; Bernhardt R
    J Steroid Biochem Mol Biol; 2016 Jan; 155(Pt A):126-34. PubMed ID: 26476331
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
    Long Y; Han S; Zhang X; Zhang X; Chen T; Gao Y; Tian H
    Endocr J; 2016; 63(3):301-10. PubMed ID: 26806323
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
    Ben Charfeddine I; Riepe FG; Kahloul N; Kulle AE; Adala L; Mamaï O; Amara A; Mili A; Amri F; Saad A; Holterhus PM; Gribaa M
    Gen Comp Endocrinol; 2012 Feb; 175(3):514-8. PubMed ID: 22210247
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
    Krone N; Riepe FG; Götze D; Korsch E; Rister M; Commentz J; Partsch CJ; Grötzinger J; Peter M; Sippell WG
    J Clin Endocrinol Metab; 2005 Jun; 90(6):3724-30. PubMed ID: 15755848
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    J Steroid Biochem Mol Biol; 2018 Jul; 181():88-97. PubMed ID: 29626607
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
    Wang X; Nie M; Lu L; Tong A; Chen S; Lu Z
    Steroids; 2015 Aug; 100():11-6. PubMed ID: 25911436
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
    Shammas C; Byrou S; Phelan MM; Toumba M; Stylianou C; Skordis N; Neocleous V; Phylactou LA
    Hormones (Athens); 2016 Apr; 15(2):235-242. PubMed ID: 27376426
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gu C; Tan H; Yang J; Lu Y; Ma Y
    Gene; 2017 Aug; 626():89-94. PubMed ID: 28514642
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.
    Merke DP; Tajima T; Chhabra A; Barnes K; Mancilla E; Baron J; Cutler GB
    J Clin Endocrinol Metab; 1998 Jan; 83(1):270-3. PubMed ID: 9435454
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
    Wei C; Zhang Z; Sang M; Dai H; Yang T; Sun M
    J Steroid Biochem Mol Biol; 2021 Jul; 211():105882. PubMed ID: 33785438
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.
    Charnwichai P; Yeetong P; Suphapeetiporn K; Supornsilchai V; Sahakitrungruang T; Shotelersuk V
    BMC Endocr Disord; 2016 Jun; 16(1):37. PubMed ID: 27316665
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Proc Natl Acad Sci U S A; 2017 Mar; 114(10):E1933-E1940. PubMed ID: 28228528
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
    Sun B; Lu L; Xie S; Zhang W; Zhang X; Tong A; Chen S; Wu X; Mao J; Wang X; Qiu L; Nie M
    FASEB J; 2023 Apr; 37(4):e22869. PubMed ID: 36929050
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
    Kandemir N; Yilmaz DY; Gonc EN; Ozon A; Alikasifoglu A; Dursun A; Ozgul RK
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):57-63. PubMed ID: 26956189
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in CYP11B1 gene: phenotype-genotype correlations.
    Zhu YS; Cordero JJ; Can S; Cai LQ; You X; Herrera C; DeFillo-Ricart M; Shackleton C; Imperato-McGinley J
    Am J Med Genet A; 2003 Oct; 122A(3):193-200. PubMed ID: 12966519
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
    Polat S; Kulle A; Karaca Z; Akkurt I; Kurtoglu S; Kelestimur F; Grötzinger J; Holterhus PM; Riepe FG
    Eur J Endocrinol; 2014 May; 170(5):697-706. PubMed ID: 24536089
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
    Krone N; Grischuk Y; Müller M; Volk RE; Grötzinger J; Holterhus PM; Sippell WG; Riepe FG
    J Clin Endocrinol Metab; 2006 Jul; 91(7):2682-8. PubMed ID: 16670167
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
    Kharrat M; Trabelsi S; Chaabouni M; Maazoul F; Kraoua L; Ben Jemaa L; Gandoura N; Barsaoui S; Morel Y; M'rad R; Chaabouni H
    Clin Genet; 2010 Oct; 78(4):398-401. PubMed ID: 20331679
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.