BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 36357326)

  • 1. Side-chain cleavage enzyme deficiency: Systematic review and case series.
    Phadte A; Arya S; Sarathi V; Lila A; Maheshwari M; Memon SS; Rane A; Patil V; Rai K; Raghav D; Kunwar A; Bandgar T
    Clin Endocrinol (Oxf); 2023 Mar; 98(3):351-362. PubMed ID: 36357326
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
    Phadte A; Dhole C; Hegishte S; Sarathi V; Lila A; Gada JV; Memon SS; Arya S; Karlekar M; Patil V; Varthakavi PK; Shah N; Bhagwat NM; Bandgar T
    Clin Endocrinol (Oxf); 2024 May; 100(5):431-440. PubMed ID: 38368602
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
    Krishnappa B; Arya S; Lila AR; Sarathi V; Memon SS; Barnabas R; Kumbhar BV; Bhandare VV; Patil V; Shah NS; Kunwar A; Bandgar T
    Clin Endocrinol (Oxf); 2022 Jul; 97(1):43-51. PubMed ID: 35170787
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
    Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB
    Birth Defects Res C Embryo Today; 2016 Dec; 108(4):309-320. PubMed ID: 28033660
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Etiological diagnosis of undervirilized male/XY disorder of sex development.
    Atta I; Ibrahim M; Parkash A; Lone SW; Khan YN; Raza J
    J Coll Physicians Surg Pak; 2014 Oct; 24(10):714-8. PubMed ID: 25327912
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Causes of ambiguous external genitalia in neonates].
    Zdravković D; Milenković T; Sedlecki K; Guć-Sćekić M; Rajić V; Banićević M
    Srp Arh Celok Lek; 2001; 129(3-4):57-60. PubMed ID: 11534268
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
    Ishii T; Hori N; Amano N; Aya M; Shibata H; Katsumata N; Hasegawa T
    J Endocr Soc; 2019 Jul; 3(7):1367-1374. PubMed ID: 31286101
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
    Fabbri HC; de Andrade JG; Soardi FC; de Calais FL; Petroli RJ; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    BMC Med Genet; 2014 Jan; 15():7. PubMed ID: 24405868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Update--steroidogenic factor 1 (SF-1, NR5A1).
    Köhler B; Achermann JC
    Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
    Kallali W; Gray E; Mehdi MZ; Lindsay R; Metherell LA; Buonocore F; Suntharalingham JP; Achermann JC; Donaldson M
    Eur J Endocrinol; 2020 Mar; 182(3):K15-K24. PubMed ID: 31917682
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.
    Kolli V; Kim H; Torky A; Lao Q; Tatsi C; Mallappa A; Merke DP
    J Clin Endocrinol Metab; 2019 Feb; 104(2):269-276. PubMed ID: 30299480
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
    Sahakitrungruang T; Tee MK; Blackett PR; Miller WL
    J Clin Endocrinol Metab; 2011 Mar; 96(3):792-8. PubMed ID: 21159840
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
    Idkowiak J; O'Riordan S; Reisch N; Malunowicz EM; Collins F; Kerstens MN; Köhler B; Graul-Neumann LM; Szarras-Czapnik M; Dattani M; Silink M; Shackleton CH; Maiter D; Krone N; Arlt W
    J Clin Endocrinol Metab; 2011 Mar; 96(3):E453-62. PubMed ID: 21190981
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia).
    Müller J; Torsson A; Damkjaer Nielsen M; Petersen KE; Christoffersen J; Skakkebaek NE
    Horm Res; 1991; 36(5-6):203-8. PubMed ID: 1668380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pubertal development in 46,XY patients with NR5A1 mutations.
    Mönig I; Schneidewind J; Johannsen TH; Juul A; Werner R; Lünstedt R; Birnbaum W; Marshall L; Wünsch L; Hiort O
    Endocrine; 2022 Feb; 75(2):601-613. PubMed ID: 34613524
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
    Tantawy S; Lin L; Akkurt I; Borck G; Klingmüller D; Hauffa BP; Krude H; Biebermann H; Achermann JC; Köhler B
    Eur J Endocrinol; 2012 Jul; 167(1):125-30. PubMed ID: 22474171
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in
    Goursaud C; Mallet D; Janin A; Menassa R; Tardy-Guidollet V; Russo G; Lienhardt-Roussie A; Lecointre C; Plotton I; Morel Y; Roucher-Boulez F
    Front Endocrinol (Lausanne); 2018; 9():491. PubMed ID: 30233493
    [No Abstract]   [Full Text] [Related]  

  • 18. [Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia].
    Zheng WQ; Duan Y; Xiao B; Liang LL; Xia Y; Gong ZW; Sun Y; Zhang HW; Han LS; Wang RF; Yang Y; Zhan X; Yu YG; Gu XF; Qiu WJ
    Zhonghua Er Ke Za Zhi; 2022 Oct; 60(10):1066-1071. PubMed ID: 36207855
    [No Abstract]   [Full Text] [Related]  

  • 19. The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.
    Slowikowska-Hilczer J; Szarras-Czapnik M; Wolski JK; Oszukowska E; Hilczer M; Jakubowski L; Walczak-Jedrzejowska R; Marchlewska K; Filipiak E; Kaluzewski B; Baka-Ostrowska M; Niedzielski J; Kula K
    Folia Histochem Cytobiol; 2015; 53(3):218-26. PubMed ID: 26314751
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
    Chan AO; But WM; Lee CY; Lam YY; Ng KL; Loung PY; Lam A; Cheng CW; Shek CC; Wong WS; Wong KF; Wong MY; Tse WY
    Hong Kong Med J; 2015 Dec; 21(6):499-510. PubMed ID: 26492835
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.