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 *

172 related articles for article (PubMed ID: 23708259)

  • 1. Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.
    Habeb AM; Hughes CR; Al-Arabi R; Al-Muhamadi A; Clark AJ; Metherell LA
    Eur J Pediatr; 2013 Oct; 172(10):1407-10. PubMed ID: 23708259
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
    Özbek MN; Demiral M; Unal E; Karaşin ND; Baran RT; Demirbilek H
    J Pediatr Endocrinol Metab; 2021 Nov; 34(11):1463-1468. PubMed ID: 34271604
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.
    Akin MA; Akin L; Coban D; Ozturk MA; Bircan R; Kurtoglu S
    Neonatology; 2011; 100(3):277-81. PubMed ID: 21701219
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The genetics of ACTH resistance syndromes.
    Metherell LA; Chan LF; Clark AJ
    Best Pract Res Clin Endocrinol Metab; 2006 Dec; 20(4):547-60. PubMed ID: 17161331
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Heterogeneity in the molecular basis of ACTH resistance syndrome.
    Collares CV; Antunes-Rodrigues J; Moreira AC; Franca SN; Pereira LA; Soares MM; Elias Junior J; Clark AJ; de Castro M; Elias LL
    Eur J Endocrinol; 2008 Jul; 159(1):61-8. PubMed ID: 18426811
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Isolated glucocorticoid deficiency: Genetic causes and animal models.
    Maharaj A; Maudhoo A; Chan LF; Novoselova T; Prasad R; Metherell LA; Guasti L
    J Steroid Biochem Mol Biol; 2019 May; 189():73-80. PubMed ID: 30817990
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ACTH resistance: genes and mechanisms.
    Meimaridou E; Hughes CR; Kowalczyk J; Chan LF; Clark AJ; Metherell LA
    Endocr Dev; 2013; 24():57-66. PubMed ID: 23392095
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. 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. PubMed ID: 21274326
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.
    Francescato G; Salvatoni A; Persani L; Agosti M
    BMJ Case Rep; 2012 Jul; 2012():. PubMed ID: 22814974
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
    Jazayeri O; Liu X; van Diemen CC; Bakker-van Waarde WM; Sikkema-Raddatz B; Sinke RJ; Zhang J; van Ravenswaaij-Arts CM
    Eur J Med Genet; 2015 Dec; 58(12):642-9. PubMed ID: 26548497
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
    Pons Fernández N; Moriano Gutiérrez A; Taberner Pazos B; Tarragon Cros A; Díez Gandía E; Zuñiga Cabrera Á
    Ann Endocrinol (Paris); 2024 Feb; 85(1):70-81. PubMed ID: 37352919
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
    Dias RP; Chan LF; Metherell LA; Pearce SH; Clark AJ
    Eur J Endocrinol; 2010 Feb; 162(2):357-9. PubMed ID: 19903795
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
    Aza-Carmona M; Barreda-Bonis AC; Guerrero-Fernández J; González-Casado I; Gracia R; Heath KE
    J Pediatr Endocrinol Metab; 2011; 24(5-6):395-7. PubMed ID: 21823545
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.