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Journal Abstract Search

125 related items for PubMed ID: 23760708

  • 1. Clinically relevant genetic advances in endocrinology.
    Rogers A, Thakker RV.
    Clin Med (Lond); 2013 Jun; 13(3):299-305. PubMed ID: 23760708
    [No Abstract] [Full Text] [Related]

  • 2. [A pedigree with X-linked congenital adrenal dysplasia].
    Yuan W, Fu J, Liang L, Huang K.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):123-5. PubMed ID: 23450496
    [No Abstract] [Full Text] [Related]

  • 3. Congenital adrenal hypoplasia and hypogonadotropic hypogonadism: phenotypic variability of the DAX-1 gene R267P mutation.
    Sánchez-Pacheco M, Moreno-Pérez O, Sánchez-Ortiga R, Picó A, Moreno F.
    Endocrinol Nutr; 2012 Feb; 59(2):140-2. PubMed ID: 21925982
    [No Abstract] [Full Text] [Related]

  • 4. Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.
    Evliyaoğlu O, Dokurel İ, Bucak F, Özcabı B, Ercan Ö, Ceylaner S.
    J Clin Res Pediatr Endocrinol; 2013 Feb; 5(1):55-7. PubMed ID: 23367499
    [Abstract] [Full Text] [Related]

  • 5. NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.
    Rojek A, Obara-Moszynska M, Malecka E, Slomko-Jozwiak M, Niedziela M.
    J Appl Genet; 2013 May; 54(2):225-30. PubMed ID: 23378245
    [No Abstract] [Full Text] [Related]

  • 6. Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
    Koh JW, Kim GH, Yoo HW, Yu J.
    J Korean Med Sci; 2013 Nov; 28(11):1650-6. PubMed ID: 24265530
    [Abstract] [Full Text] [Related]

  • 7. Gain of function in CDKN1C.
    Riccio A, Cubellis MV.
    Nat Genet; 2012 Jun 27; 44(7):737-8. PubMed ID: 22735584
    [No Abstract] [Full Text] [Related]

  • 8. Genetic forms of adrenal insufficiency.
    Brett EM, Auchus RJ.
    Endocr Pract; 2015 Apr 27; 21(4):395-9. PubMed ID: 25667374
    [Abstract] [Full Text] [Related]

  • 9. Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia.
    Mueller OT, Coovadia A.
    Hum Genet; 2010 Apr 27; 127(4):473. PubMed ID: 21488282
    [No Abstract] [Full Text] [Related]

  • 10. Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
    Wu CM, Zhang HB, Zhou Q, Wan L, Jin J, Ni L, Pan YJ, Wu XY, Ruan LY.
    J Endocrinol Invest; 2011 Sep 27; 34(8):e235-9. PubMed ID: 21270512
    [Abstract] [Full Text] [Related]

  • 11. Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder.
    Calliari LE, Rocha MN, Monte O, Longui CA.
    Arq Bras Endocrinol Metabol; 2013 Oct 27; 57(7):562-5. PubMed ID: 24232823
    [Abstract] [Full Text] [Related]

  • 12. Foreword.
    J Steroid Biochem Mol Biol; 2017 Jan 27; 165(Pt A):1. PubMed ID: 27890074
    [No Abstract] [Full Text] [Related]

  • 13. Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
    Balikcioglu PG, Gómez R, Vargas A, Aradhya S, Messiaen LM, Lacassie Y.
    Am J Med Genet A; 2013 Aug 27; 161A(8):2105-7. PubMed ID: 23824603
    [No Abstract] [Full Text] [Related]

  • 14. A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism.
    Wang CL, Fen ZW, Liang L.
    J Pediatr Endocrinol Metab; 2014 Mar 27; 27(3-4):343-7. PubMed ID: 24197767
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hypoplasia.
    COX PJ.
    Proc R Soc Med; 1962 Nov 27; 55(11):981-2. PubMed ID: 14023572
    [No Abstract] [Full Text] [Related]

  • 16. [Genetics in endocrinology].
    Clauser E.
    Ann Endocrinol (Paris); 2003 Nov 27; 64(5 Pt 1):361. PubMed ID: 15072037
    [No Abstract] [Full Text] [Related]

  • 17. Endocrinology and metabolism 2006: editorial comments.
    Root AW.
    Curr Opin Pediatr; 2006 Aug 27; 18(4):423-6. PubMed ID: 16914998
    [No Abstract] [Full Text] [Related]

  • 18. A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
    Rojek A, Flader M, Malecka E, Niedziela M.
    Hormones (Athens); 2014 Aug 27; 13(3):413-9. PubMed ID: 25079468
    [Abstract] [Full Text] [Related]

  • 19. Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    Van Obbergh LJ, Corteel J, Papadopoulos J, Aunac S.
    Paediatr Anaesth; 2011 Oct 27; 21(10):1085-7. PubMed ID: 21981102
    [No Abstract] [Full Text] [Related]

  • 20. X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
    Lumaka A, Mubungu G, Nsibu C, Tady BP, Lukusa T, Devriendt K.
    Eur J Pediatr; 2012 Feb 27; 171(2):267-70. PubMed ID: 21739173
    [Abstract] [Full Text] [Related]

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