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2. Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. Achermann JC; Meeks JJ; Jeffs B; Das U; Clayton PE; Brook CG; Jameson JL Mol Genet Metab; 2001 Aug; 73(4):354-7. PubMed ID: 11509019 [TBL] [Abstract][Full Text] [Related]
3. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. Bose HS; Sugawara T; Strauss JF; Miller WL; N Engl J Med; 1996 Dec; 335(25):1870-8. PubMed ID: 8948562 [TBL] [Abstract][Full Text] [Related]
4. Phenotypic variations in lipoid congenital adrenal hyperplasia. Bhangoo A; Anhalt H; Ten S; King SR Pediatr Endocrinol Rev; 2006 Mar; 3(3):258-71. PubMed ID: 16639391 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online. Katsumata N; Tanae A; Shinagawa T; Nagashima-Miyokawa A; Shimizu M; Yasunaga T; Tanaka T; Hibi I Hum Mutat; 1998; 11(4):331. PubMed ID: 10215405 [TBL] [Abstract][Full Text] [Related]
8. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. Chen X; Baker BY; Abduljabbar MA; Miller WL J Clin Endocrinol Metab; 2005 Feb; 90(2):835-40. PubMed ID: 15546900 [TBL] [Abstract][Full Text] [Related]
9. The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. Yüksel B; Kulle AE; Gürbüz F; Welzel M; Kotan D; Mengen E; Holterhus PM; Topaloğlu AK; Grötzinger J; Riepe FG Horm Res Paediatr; 2013; 80(3):163-9. PubMed ID: 23920000 [TBL] [Abstract][Full Text] [Related]
10. A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Flück CE; Maret A; Mallet D; Portrat-Doyen S; Achermann JC; Leheup B; Theintz GE; Mullis PE; Morel Y J Clin Endocrinol Metab; 2005 Sep; 90(9):5304-8. PubMed ID: 15985476 [TBL] [Abstract][Full Text] [Related]
11. [Molecular genetic analysis of congenital lipoid adrenal hyperplasia]. Qiu WJ; Ye J; Han B; Han LS; Gu XF Zhonghua Er Ke Za Zhi; 2004 Aug; 42(8):585-8. PubMed ID: 15347444 [TBL] [Abstract][Full Text] [Related]
12. Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia. Bose HS; Baldwin MA; Miller WL Biochemistry; 1998 Jul; 37(27):9768-75. PubMed ID: 9657690 [TBL] [Abstract][Full Text] [Related]
13. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. Fujieda K; Tajima T; Nakae J; Sageshima S; Tachibana K; Suwa S; Sugawara T; Strauss JF J Clin Invest; 1997 Mar; 99(6):1265-71. PubMed ID: 9077535 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. Bens S; Mohn A; Yüksel B; Kulle AE; Michalek M; Chiarelli F; Nuri Ozbek M; Leuschner I; Grötzinger J; Holterhus PM; Riepe FG J Clin Endocrinol Metab; 2010 Mar; 95(3):1301-8. PubMed ID: 20080861 [TBL] [Abstract][Full Text] [Related]
17. A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. Katsumata N; Kawada Y; Yamamoto Y; Noda M; Nimura A; Horikawa R; Tanaka T J Clin Endocrinol Metab; 1999 Nov; 84(11):3983-7. PubMed ID: 10566637 [TBL] [Abstract][Full Text] [Related]
18. Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. Bose HS; Sato S; Aisenberg J; Shalev SA; Matsuo N; Miller WL J Clin Endocrinol Metab; 2000 Oct; 85(10):3636-9. PubMed ID: 11061515 [TBL] [Abstract][Full Text] [Related]
19. Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia. Eiden-Plach A; Nguyen HH; Schneider U; Hartmann MF; Bernhardt R; Hannemann F; Wudy SA J Steroid Biochem Mol Biol; 2012 May; 130(1-2):1-6. PubMed ID: 22249004 [TBL] [Abstract][Full Text] [Related]