132 related articles for article (PubMed ID: 30233493)
1. 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]
2. 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]
3. Predicted Benign and Synonymous Variants in
Maharaj A; Buonocore F; Meimaridou E; Ruiz-Babot G; Guasti L; Peng HM; Capper CP; Burgos-Tirado N; Prasad R; Hughes CR; Maudhoo A; Crowne E; Cheetham TD; Brain CE; Suntharalingham JP; Striglioni N; Yuksel B; Gurbuz F; Gupta S; Lindsay R; Couch R; Spoudeas HA; Guran T; Johnson S; Fowler DJ; Conwell LS; McInerney-Leo AM; Drui D; Cariou B; Lopez-Siguero JP; Harris M; Duncan EL; Hindmarsh PC; Auchus RJ; Donaldson MD; Achermann JC; Metherell LA
J Endocr Soc; 2019 Jan; 3(1):201-221. PubMed ID: 30620006
[TBL] [Abstract][Full Text] [Related]
4. Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
Parajes S; Chan AO; But WM; Rose IT; Taylor AE; Dhir V; Arlt W; Krone N
Eur J Endocrinol; 2012 Dec; 167(6):881-5. PubMed ID: 22968487
[TBL] [Abstract][Full Text] [Related]
5. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
Kim CJ; Lin L; Huang N; Quigley CA; AvRuskin TW; Achermann JC; Miller WL
J Clin Endocrinol Metab; 2008 Mar; 93(3):696-702. PubMed ID: 18182448
[TBL] [Abstract][Full Text] [Related]
6. A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
Parajes S; Kamrath C; Rose IT; Taylor AE; Mooij CF; Dhir V; Grötzinger J; Arlt W; Krone N
J Clin Endocrinol Metab; 2011 Nov; 96(11):E1798-806. PubMed ID: 21880796
[TBL] [Abstract][Full Text] [Related]
7. First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.
Pomahačová R; Sýkora J; Zamboryová J; Paterová P; Varvařovská J; Šubrt I; Dort J; Dortová E
J Pediatr Endocrinol Metab; 2016 Jun; 29(6):749-52. PubMed ID: 27008691
[TBL] [Abstract][Full Text] [Related]
8. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.
Kim A; Fujimoto M; Hwa V; Backeljauw P; Dauber A
Horm Res Paediatr; 2018; 89(3):205-210. PubMed ID: 29566378
[TBL] [Abstract][Full Text] [Related]
9. Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.
Yu B; Gao Y; Mao J; Wang X; Nie M; Wu X
Orphanet J Rare Dis; 2021 Aug; 16(1):370. PubMed ID: 34461970
[TBL] [Abstract][Full Text] [Related]
10. Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive.
Papadimitriou DT; Bothou C; Zarganis D; Karantza M; Papadimitriou A
Hormones (Athens); 2018 Sep; 17(3):419-421. PubMed ID: 29995203
[TBL] [Abstract][Full Text] [Related]
11. Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
al Kandari H; Katsumata N; Alexander S; Rasoul MA
J Clin Endocrinol Metab; 2006 Aug; 91(8):2821-6. PubMed ID: 16705068
[TBL] [Abstract][Full Text] [Related]
12. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
Rubtsov P; Karmanov M; Sverdlova P; Spirin P; Tiulpakov A
J Clin Endocrinol Metab; 2009 Mar; 94(3):936-9. PubMed ID: 19116240
[TBL] [Abstract][Full Text] [Related]
13. A Novel Intronic Splice-Site Mutation of the
Matusik P; Gach A; Zajdel-Cwynar O; Pinkier I; Kudela G; Gawlik A
Int J Environ Res Public Health; 2021 Jul; 18(13):. PubMed ID: 34281122
[TBL] [Abstract][Full Text] [Related]
14. Disorders in the initial steps of steroid hormone synthesis.
Miller WL
J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):18-37. PubMed ID: 26960203
[TBL] [Abstract][Full Text] [Related]
15. Can Digenic, Tri-Allelic Inheritance of Variants in
Ali N; Maharaj AV; Buonocore F; Achermann JC; Metherell LA
Front Endocrinol (Lausanne); 2022; 13():860055. PubMed ID: 35418949
[TBL] [Abstract][Full Text] [Related]
16. Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.
Katsumata N
Clin Pediatr Endocrinol; 2007; 16(3):63-8. PubMed ID: 24790347
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.
Tajima T; Fujieda K; Kouda N; Nakae J; Miller WL
J Clin Endocrinol Metab; 2001 Aug; 86(8):3820-5. PubMed ID: 11502818
[TBL] [Abstract][Full Text] [Related]
18. A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
Lara-Velazquez M; Perdomo-Pantoja A; Blackburn PR; Gass JM; Caulfield TR; Atwal PS
Mol Genet Genomic Med; 2017 Nov; 5(6):781-787. PubMed ID: 29178636
[TBL] [Abstract][Full Text] [Related]
19. Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with
Garcia C; Dusaud M; Chiron P; Sollier M; Nassouri S; Groussin L; Sibony M; Goursaud C; Roucher-Boulez F; Bordier L
Case Rep Endocrinol; 2021; 2021():5889007. PubMed ID: 34976419
[TBL] [Abstract][Full Text] [Related]
20. A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.
Orekhova AS; Kalinchenko N; Morozov IA; Vasilyev EV; Rubtsov PM; Dedov II; Tiulpakov A
Horm Res Paediatr; 2018; 89(6):450-454. PubMed ID: 29151085
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
