These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 22801770)

  • 1. Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.
    Klomchan T; Supornsilchai V; Wacharasindhu S; Shotelersuk V; Sahakitrungruang T
    Eur J Pediatr; 2012 Oct; 171(10):1559-62. PubMed ID: 22801770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
    Merakou C; Fylaktou I; Sertedaki A; Dracopoulou M; Voutetakis A; Efthymiadou A; Christoforidis A; Dacou-Voutetakis C; Chrysis D; Kanaka-Gantenbein C
    J Clin Endocrinol Metab; 2021 Jan; 106(1):e182-e191. PubMed ID: 33098647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in
    Turan H; Dağdeviren Çakır A; Özer Y; Tarçın G; Özcabi B; Ceylaner S; Ercan O; Evliyaoğlu SO
    J Clin Res Pediatr Endocrinol; 2021 Jun; 13(2):232-238. PubMed ID: 32539318
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
    Kondo E; Nakamura A; Homma K; Hasegawa T; Yamaguchi T; Narugami M; Hattori T; Aoyagi H; Ishizu K; Tajima T
    Endocr J; 2013; 60(1):51-5. PubMed ID: 23018980
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
    Kayes-Wandover KM; Tannin GM; Shulman D; Peled D; Jones KL; Karaviti L; White PC
    J Clin Endocrinol Metab; 2001 Nov; 86(11):5379-82. PubMed ID: 11701710
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.
    Papailiou S; Vlachopapadopoulou EA; Sertedaki A; Maritsi D; Syggelos N; Syggelou A
    Endocr Regul; 2020 Jul; 54(3):227-229. PubMed ID: 32857717
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
    Miao H; Yu Z; Lu L; Zhu H; Auchus RJ; Liu J; Jiang J; Pan H; Gong F; Chen S; Lu Z
    Steroids; 2019 Oct; 150():108448. PubMed ID: 31302112
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Aldosterone synthase deficiency and related disorders.
    White PC
    Mol Cell Endocrinol; 2004 Mar; 217(1-2):81-7. PubMed ID: 15134805
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
    Üstyol A; Atabek ME; Taylor N; Yeung MC; Chan AO
    J Clin Res Pediatr Endocrinol; 2016 Sep; 8(3):356-9. PubMed ID: 27125267
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
    Peter M; Dubuis JM; Sippell WG
    Horm Res; 1999; 51(5):211-22. PubMed ID: 10559665
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a Novel
    Garrelfs MR; Rinne T; Hillebrand JJ; Lauffer P; Bijlsma MW; Claahsen-van der Grinten HL; de Leeuw N; Finken MJJ; Rotteveel J; Zwaveling-Soonawala N; Nieuwdorp M; van Trotsenburg ASP; Mooij CF
    J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):95-101. PubMed ID: 35848593
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
    Peter M; Nikischin W; Heinz-Erian P; Fussenegger W; Kapelari K; Sippell WG
    Horm Res; 1998; 50(4):222-5. PubMed ID: 9838244
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A particular phenotype in a girl with aldosterone synthase deficiency.
    Williams TA; Mulatero P; Bosio M; Lewicka S; Palermo M; Veglio F; Armanini D
    J Clin Endocrinol Metab; 2004 Jul; 89(7):3168-72. PubMed ID: 15240589
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
    Faingelernt Y; Hershkovitz E; Abu-Libdeh B; Abedrabbo A; Abu-Rmaileh Amro S; Zarivach R; Zangen D; Lavi E; Haim A; Parvari R; Abu-Libdeh A
    Am J Med Genet A; 2021 Apr; 185(4):1033-1038. PubMed ID: 33438832
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
    Takeda Y; Yoneda T; Demura M; Furukawa K; Koshida H; Miyamori I; Mabuchi H
    Clin Endocrinol (Oxf); 2001 Jun; 54(6):751-8. PubMed ID: 11422109
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
    Kayes-Wandover KM; Schindler RE; Taylor HC; White PC
    J Clin Endocrinol Metab; 2001 Mar; 86(3):1008-12. PubMed ID: 11238478
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.
    Fardella CE; Hum DW; Rodriguez H; Zhang G; Barry FL; Ilicki A; Bloch CA; Miller WL
    J Clin Endocrinol Metab; 1996 Jan; 81(1):321-6. PubMed ID: 8550772
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.
    Nguyen HH; Hannemann F; Hartmann MF; Malunowicz EM; Wudy SA; Bernhardt R
    Mol Genet Metab; 2010 Aug; 100(4):357-64. PubMed ID: 20494601
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
    Turan I; Kotan LD; Tastan M; Gurbuz F; Topaloglu AK; Yuksel B
    Clin Endocrinol (Oxf); 2018 Jun; 88(6):799-805. PubMed ID: 29582446
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.
    Tin MK; Hakki T; Bernhardt R
    J Steroid Biochem Mol Biol; 2011 Mar; 124(1-2):31-7. PubMed ID: 21237269
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.