These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 30817990)

  • 21. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
    Meimaridou E; Kowalczyk J; Guasti L; Hughes CR; Wagner F; Frommolt P; Nürnberg P; Mann NP; Banerjee R; Saka HN; Chapple JP; King PJ; Clark AJ; Metherell LA
    Nat Genet; 2012 May; 44(7):740-2. PubMed ID: 22634753
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
    Yamaguchi R; Kato F; Hasegawa T; Katsumata N; Fukami M; Matsui T; Nagasaki K; Ogata T
    Endocr J; 2013; 60(7):855-9. PubMed ID: 23474776
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
    Jain V; Metherell LA; David A; Sharma R; Sharma PK; Clark AJ; Chan LF
    Eur J Endocrinol; 2011 Dec; 165(6):987-91. PubMed ID: 21951701
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene.
    Jacoby E; Barzilai A; Laufer J; Pade S; Anikster Y; Pinhas-Hamiel O; Greenberger S
    Pediatr Dermatol; 2014; 31(1):e13-7. PubMed ID: 24224542
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
    Metherell LA; Naville D; Halaby G; Begeot M; Huebner A; Nürnberg G; Nürnberg P; Green J; Tomlinson JW; Krone NP; Lin L; Racine M; Berney DM; Achermann JC; Arlt W; Clark AJ
    J Clin Endocrinol Metab; 2009 Oct; 94(10):3865-71. PubMed ID: 19773404
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
    Weinberg-Shukron A; Abu-Libdeh A; Zhadeh F; Carmel L; Kogot-Levin A; Kamal L; Kanaan M; Zeligson S; Renbaum P; Levy-Lahad E; Zangen D
    J Med Genet; 2015 Sep; 52(9):636-41. PubMed ID: 26070314
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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. PubMed ID: 15654338
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
    Malikova J; Flück CE
    Horm Res Paediatr; 2014; 82(3):145-57. PubMed ID: 25096886
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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. PubMed ID: 19558534
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
    Selva KA; LaFranchi SH; Boston B
    J Pediatr Endocrinol Metab; 2004 Jan; 17(1):85-92. PubMed ID: 14960026
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Familial glucocorticoid deficiency].
    Mazur A; Ostański M; Kalina M
    Pediatr Endocrinol Diabetes Metab; 2007; 13(2):91-4. PubMed ID: 17880814
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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. PubMed ID: 20427498
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ACTH resistance syndromes.
    Huebner A; Elias LL; Clark AJ
    J Pediatr Endocrinol Metab; 1999 Apr; 12 Suppl 1():277-93. PubMed ID: 10698592
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.
    Matsuura H; Shiohara M; Yamano M; Kurata K; Arai F; Koike K
    J Pediatr Endocrinol Metab; 2006 Sep; 19(9):1167-70. PubMed ID: 17128565
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
    Duan Y; Xia Y; Gong Z; Liu H; Liang L; Zhang K; Yang Y; Wang R; Xiao B; Qiu W
    Mol Syndromol; 2023 Feb; 14(1):71-79. PubMed ID: 36777708
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.
    Chen C; Zhou R; Fang Y; Jiang L; Liang L; Wang C
    Mol Genet Metab Rep; 2016 Dec; 9():15-7. PubMed ID: 27660747
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.
    Artigas RA; Gonzalez A; Riquelme E; Carvajal CA; Cattani A; Martínez-Aguayo A; Kalergis AM; Pérez-Acle T; Fardella CE
    J Clin Endocrinol Metab; 2008 Aug; 93(8):3097-105. PubMed ID: 18492762
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.
    Gorrigan RJ; Guasti L; King P; Clark AJ; Chan LF
    J Mol Endocrinol; 2011 Jun; 46(3):227-32. PubMed ID: 21367968
    [TBL] [Abstract][Full Text] [Related]  

  • 39. An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).
    Turan S; Hughes C; Atay Z; Guran T; Haliloglu B; Clark AJ; Bereket A; Metherell LA
    J Clin Endocrinol Metab; 2012 May; 97(5):E771-4. PubMed ID: 22337906
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Triple-A syndrome: a wide spectrum of adrenal dysfunction.
    Roucher-Boulez F; Brac de la Perriere A; Jacquez A; Chau D; Guignat L; Vial C; Morel Y; Nicolino M; Raverot G; Pugeat M
    Eur J Endocrinol; 2018 Mar; 178(3):199-207. PubMed ID: 29237697
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.