首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
type 2 familial glucocorticoid deficiency, FGD type 2相关文献:
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
PMID:
[Familial glucocorticoid deficiency].
Mazur A, Ostański M, Kalina M.
Pediatr Endocrinol Diabetes Metab. 2007;13(2):91-4.
PMID:17880814
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT, Chan LF, Metherell LA, Clark AJ.
Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.
PMID:19558534
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL.
Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828.
PMID:18493136
Familial glucocorticoid deficiency type 2: a case report.
Akın L, Kurtoğlu S, Kendirici M, Akın MA.
J Clin Res Pediatr Endocrinol. 2010;2(3):122-5. doi: 10.4274/jcrpe.v2i3.122. Epub 2010 Aug 6.
PMID:21274326
Familial glucocorticoid deficiency type 2 in two neonates.
Ramachandran P, Penhoat A, Naville D, Begeot M, Osama Abdel-Wareth L, Reza Sedaghatian M.
J Perinatol. 2003 Jan;23(1):62-6. doi: 10.1038/sj.jp.7210813.
PMID:12556930
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ.
Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16.
PMID:15654338
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.
Génin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Bégeot M, Naville D.
Hum Genet. 2002 Oct;111(4-5):428-34. doi: 10.1007/s00439-002-0806-3. Epub 2002 Aug 24.
PMID:12384787
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I, Haris B, Hussain K.
J Endocr Soc. 2022 Apr 8;6(6):bvac058. doi: 10.1210/jendso/bvac058. eCollection 2022 Jun 1.
PMID:35506146
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJ, Metherell LA.
J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.
PMID:20427498
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA.
Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
PMID:23279877
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3