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Items: 1 to 20 of 101

1.

Phenotypic variability in congenital lipoid adrenal hyperplasia.

Joshi R, Das D, Tamhankar P, Shaikh S.

Indian Pediatr. 2014 May;51(5):399-400.

2.

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. doi: 10.1007/s00431-011-1620-5. Epub 2011 Nov 15.

PMID:
22083155
3.

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. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Review.

PMID:
23859637
4.

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. doi: 10.1097/MD.0000000000006994.

5.

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. doi: 10.1371/journal.pone.0020178. Epub 2011 May 27.

6.

[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].

Baquedano MS, Guercio G, Marino R, Berensztein E, Costanzo M, Ramírez P, Bailez M, Vaiani E, Maceiras M, Rivarola MA, Belgorosky A.

Medicina (B Aires). 2013;73(4):297-302. Spanish.

7.
8.

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. doi: 10.1016/j.jsbmb.2011.12.016. Epub 2012 Jan 11.

PMID:
22249004
9.

[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 Mar-Apr;129(3-4):57-60. Serbian.

PMID:
11534268
10.

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

Xie T, Zheng JP, Huang YL, Fan C, Wu DY, Tan MY, Li XZ, Cheng J, Liu L.

Zhongguo Dang Dai Er Ke Za Zhi. 2015 May;17(5):472-6. Chinese.

11.

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS, Sugawara T, Strauss JF 3rd, Miller WL; International Congenital Lipoid Adrenal Hyperplasia Consortium.

N Engl J Med. 1996 Dec 19;335(25):1870-8.

12.

Near-miss apparent SIDS from adrenal crisis.

Gassner HL, Toppari J, Quinteiro González S, Miller WL.

J Pediatr. 2004 Aug;145(2):178-83. Review.

PMID:
15289763
13.
14.

Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.

Baquedano MS, Guercio G, Marino R, Berensztein E, Costanzo M, Bailez M, Vaiani E, Maceiras M, Ramirez P, Chaler E, Rivarola MA, Belgorosky A.

J Clin Endocrinol Metab. 2013 Jan;98(1):E153-61. doi: 10.1210/jc.2012-2865. Epub 2012 Nov 21.

PMID:
23175692
15.

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, Jameson JL.

J Clin Endocrinol Metab. 2005 Nov;90(11):6303-9. Epub 2005 Aug 23.

PMID:
16118340
16.

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.

PMID:
11509019
17.

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. doi: 10.1159/000354086. Epub 2013 Aug 1.

PMID:
23920000
18.

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC.

J Clin Endocrinol Metab. 2006 Dec;91(12):4781-4785. doi: 10.1210/jc.2006-1565. Epub 2006 Sep 12.

19.

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. doi: 10.4274/Jcrpe.927.

20.

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. doi: 10.1016/j.steroids.2016.01.016. Epub 2016 Jan 28.

PMID:
26827627

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