246 related articles for article (PubMed ID: 22083155)
1. Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
Lekarev O; Mallet D; Yuen T; Morel Y; New MI
Eur J Pediatr; 2012 May; 171(5):787-93. PubMed ID: 22083155
[TBL] [Abstract][Full Text] [Related]
2. Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.
Zhao X; Su Z; Liu X; Song J; Gan Y; Wen P; Li S; Wang L; Pan L
BMC Endocr Disord; 2018 Nov; 18(1):78. PubMed ID: 30400872
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.
Zhang T; Ma X; Wang J; Jia C; Wang W; Dong Z; Ye L; Sun S; Hu R; Ning G; Li C; Lu W
J Steroid Biochem Mol Biol; 2021 Feb; 206():105788. PubMed ID: 33227378
[TBL] [Abstract][Full Text] [Related]
4. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
Flück CE; Pandey AV; Dick B; Camats N; Fernández-Cancio M; Clemente M; Gussinyé M; Carrascosa A; Mullis PE; Audi L
PLoS One; 2011; 6(5):e20178. PubMed ID: 21647419
[TBL] [Abstract][Full Text] [Related]
5. STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Camats N; Pandey AV; Fernández-Cancio M; Fernández JM; Ortega AM; Udhane S; Andaluz P; Audí L; Flück CE
Clin Endocrinol (Oxf); 2014 Feb; 80(2):191-9. PubMed ID: 23859637
[TBL] [Abstract][Full Text] [Related]
6. A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
Fu R; Lu L; Jiang J; Nie M; Wang X; Lu Z
Medicine (Baltimore); 2017 May; 96(21):e6994. PubMed ID: 28538409
[TBL] [Abstract][Full Text] [Related]
7. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
Ishii T; Tajima T; Kashimada K; Mukai T; Tanahashi Y; Katsumata N; Kanno J; Hamajima T; Miyako K; Ida S; Hasegawa T
J Clin Endocrinol Metab; 2020 Nov; 105(11):. PubMed ID: 32835366
[TBL] [Abstract][Full Text] [Related]
8. A Child with Ambiguous Genitalia: An Atypical Presentation.
Sheikh WH; Asif N; Younas M; Basharat N; Qurat-Ul-Ain ; Noreen
J Coll Physicians Surg Pak; 2019 Jun; 29(6):S54-S55. PubMed ID: 31142423
[TBL] [Abstract][Full Text] [Related]
9. T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
Tee MK; Lin D; Sugawara T; Holt JA; Guiguen Y; Buckingham B; Strauss JF; Miller WL
Hum Mol Genet; 1995 Dec; 4(12):2299-305. PubMed ID: 8634702
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.
Vasudevan L; Joshi R; Das DK; Rao S; Sanghavi D; Babu S; Tamhankar PM
J Clin Res Pediatr Endocrinol; 2013; 5(2):121-4. PubMed ID: 23748066
[TBL] [Abstract][Full Text] [Related]
11. A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
Okuyama E; Nishi N; Onishi S; Itoh S; Ishii Y; Miyanaka H; Fujita K; Ichikawa Y
J Clin Endocrinol Metab; 1997 Jul; 82(7):2337-42. PubMed ID: 9215316
[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. Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.
Bizzarri C; Pisaneschi E; Mucciolo M; Pedicelli S; Galeazzi D; Novelli A; Cappa M
Ital J Pediatr; 2017 Jun; 43(1):57. PubMed ID: 28637490
[TBL] [Abstract][Full Text] [Related]
14. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z; Ye J; Han L; Qiu W; Zhang H; Yu Y; Liang L; Gong Z; Gu X
Steroids; 2016 Apr; 108():85-91. PubMed ID: 26827627
[TBL] [Abstract][Full Text] [Related]
15. Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.
Korsch E; Peter M; Hiort O; Sippell WG; Ure BM; Hauffa BP; Bergmann M
J Clin Endocrinol Metab; 1999 May; 84(5):1628-32. PubMed ID: 10323391
[TBL] [Abstract][Full Text] [Related]
16. Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients.
Chen H; Zhang Q; Chen R; Yuan X; Lin X; Yang X; Zhang Y
J Steroid Biochem Mol Biol; 2020 Jun; 200():105635. PubMed ID: 32068072
[TBL] [Abstract][Full Text] [Related]
17. Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures.
Garg M; Chugh V; Dutt Sharma S; Mitharwal P; Mangla A
J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1507-1509. PubMed ID: 32841165
[TBL] [Abstract][Full Text] [Related]
18. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein.
Bose HS; Pescovitz OH; Miller WL
J Clin Endocrinol Metab; 1997 May; 82(5):1511-5. PubMed ID: 9141542
[TBL] [Abstract][Full Text] [Related]
19. Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos E; Di Iorgi N; Fernandez-Alvarez P; Pandey AV; Groessl M; Dubey S; Camats N; Napoli F; Patti G; Lezzi M; Maghnie M; Flück CE
Int J Mol Sci; 2020 Aug; 21(17):. PubMed ID: 32867102
[TBL] [Abstract][Full Text] [Related]
20. Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.
King SR; Bhangoo A; Stocco DM
Endocr Dev; 2011; 20():47-53. PubMed ID: 21164258
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
