BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

310 related articles for article (PubMed ID: 33761789)

  • 1. Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.
    Zhou Y; Xue X; Shi P; Lu Q; Lv S
    J Int Med Res; 2021 Mar; 49(3):300060521993965. PubMed ID: 33761789
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
    Rashmi KG; Ravichandran L; Roy A; Naik D; Kamalanathan S; Sahoo J; Chapla A; Thomas N
    J ASEAN Fed Endocr Soc; 2023; 38(2):131-134. PubMed ID: 38045661
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
    Guenego A; Morel Y; Ionesco O; Mallet D; Priou-Guesdon M
    Ann Endocrinol (Paris); 2015 Feb; 76(1):71-4. PubMed ID: 25613935
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].
    Perales Martínez JI; Pina Marqués B; de Arriba Muñoz A; Mayayo Dehesa E; Labarta Aizpún JI; Loidi Fernández L
    An Pediatr (Barc); 2015 Jan; 82(1):e64-7. PubMed ID: 24593890
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
    Li H; Qiao J; Guo H
    Gynecol Endocrinol; 2010 Jul; 26(7):521-3. PubMed ID: 20170344
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.
    Bee YM; Manju C; Papari-Zareei M; Auchus RJ
    Gynecol Endocrinol; 2012 Apr; 28(4):322-5. PubMed ID: 22087567
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in
    Unal E; Yıldırım R; Taş FF; Tekin S; Ceylaner S; Haspolat YK
    Gynecol Endocrinol; 2020 Aug; 36(8):739-742. PubMed ID: 31885295
    [No Abstract]   [Full Text] [Related]  

  • 8. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Sun M; Yan X; Feng A; Wu X; Ye E; Wu H; Lu X; Yang H
    Discov Med; 2017 Nov; 24(133):175-182. PubMed ID: 29278670
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.
    Fontenele R; Costa-Santos M; Kater CE
    Endocr Pract; 2018 Feb; 24(2):170-178. PubMed ID: 29144824
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
    Kardelen AD; Toksoy G; Baş F; Yavaş Abalı Z; Gençay G; Poyrazoğlu Ş; Bundak R; Altunoğlu U; Avcı Ş; Najaflı A; Uyguner O; Karaman B; Başaran S; Darendeliler F
    J Clin Res Pediatr Endocrinol; 2018 Jul; 10(3):206-215. PubMed ID: 29595516
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.
    Mikami Y; Takai Y; Obata-Yasuoka M; Kumagai R; Yagyu H; Shigematsu K; Huang H; Uemura N; Shinsaka M; Saitoh M; Baba K; Seki H
    J Med Case Rep; 2019 Jul; 13(1):235. PubMed ID: 31358067
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.
    Oh YK; Ryoo U; Kim D; Cho SY; Jin DK; Yoon BK; Lee DY; Choi D
    J Pediatr Adolesc Gynecol; 2012 Oct; 25(5):e103-5. PubMed ID: 22841373
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.
    Sousa Paredes SC; Marques O; Alves M
    BMJ Case Rep; 2019 Dec; 12(12):. PubMed ID: 31801776
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
    Costenaro F; Rodrigues TC; Kater CE; Auchus RJ; Papari-Zareei M; Czepielewski MA
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):744-8. PubMed ID: 21340163
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
    Liao Q; Shen R; Liao M; Ran C; Zhou L; Zhang Y; Peng G; Sun Z; Zheng H; Long M
    Front Endocrinol (Lausanne); 2022; 13():989447. PubMed ID: 36339422
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
    Kurnaz E; Kartal Baykan E; Türkyılmaz A; Yaralı O; Yavaş Abalı Z; Turan S; Bereket A; Çayır A; Guran T
    Horm Res Paediatr; 2020; 93(9-10):558-566. PubMed ID: 33780934
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
    Beştaş A; Bolu S; Unal E; Aktar Karakaya A; Eröz R; Tekin M; Haspolat YK
    Endocrine; 2022 Mar; 75(3):927-933. PubMed ID: 34724156
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Seventeen alpha-hydroxylase deficiency.
    Wong SL; Shu SG; Tsai CR
    J Formos Med Assoc; 2006 Feb; 105(2):177-81. PubMed ID: 16477341
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V; Reisch N; Bleicken CM; Lebl J; Kamrath C; Schwarz HP; Grötzinger J; Sippell WG; Riepe FG; Arlt W; Krone N
    J Clin Endocrinol Metab; 2009 Aug; 94(8):3058-64. PubMed ID: 19454579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N; Satoh M; Mikami A; Mikami S; Nagashima-Miyokawa A; Sato N; Yokoya S; Tanaka T
    Horm Res; 2001; 55(3):141-6. PubMed ID: 11549876
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.