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152 related items for PubMed ID: 21270512

  • 1. 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; 34(8):e235-9. PubMed ID: 21270512
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Qin G, Ji H, Li X, Ma X, Wang D.
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):809-14. PubMed ID: 25968435
    [Abstract] [Full Text] [Related]

  • 3. 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 Jul; 13(3):413-9. PubMed ID: 25079468
    [Abstract] [Full Text] [Related]

  • 4. A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Battistin C, Menezes Filho HC, Domenice S, Nishi MY, Della Manna T, Kuperman H, Steinmetz L, Dichtchekenian V, Setian N, Damiani D.
    Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):496-500. PubMed ID: 23295288
    [Abstract] [Full Text] [Related]

  • 5. Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
    Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S.
    Hum Reprod; 2011 Mar; 26(3):724-8. PubMed ID: 21227944
    [Abstract] [Full Text] [Related]

  • 6. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
    Li N, Liu R, Zhang H, Yang J, Sun S, Zhang M, Liu Y, Lu Y, Wang W, Mu Y, Ning G, Li X.
    J Clin Endocrinol Metab; 2010 Sep; 95(9):E104-11. PubMed ID: 20573681
    [Abstract] [Full Text] [Related]

  • 7. X-linked congenital adrenal hypoplasia: a case presentation.
    Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X.
    BMC Endocr Disord; 2021 Jun 15; 21(1):118. PubMed ID: 34130666
    [Abstract] [Full Text] [Related]

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  • 9. 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 15; 27(3-4):343-7. PubMed ID: 24197767
    [Abstract] [Full Text] [Related]

  • 10. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
    Guo W, Mason JS, Stone CG, Morgan SA, Madu SI, Baldini A, Lindsay EA, Biesecker LG, Copeland KC, Horlick MN.
    JAMA; 1995 Jul 26; 274(4):324-30. PubMed ID: 7609262
    [Abstract] [Full Text] [Related]

  • 11. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
    Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E.
    J Pediatr Endocrinol Metab; 2019 Aug 27; 32(8):863-869. PubMed ID: 31219797
    [Abstract] [Full Text] [Related]

  • 12. [Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].
    Fu Y, Nie M, Xia WB, Lu L, Mao JF, Pan H, Wu XY, Zhao WG.
    Zhonghua Yi Xue Za Zhi; 2010 Aug 10; 90(30):2119-22. PubMed ID: 21029627
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.
    Xu XQ, Feng YY, Yuan WX, Huang K, Liang L, Fu JF.
    Endocr Pract; 2013 Aug 10; 19(4):e105-11. PubMed ID: 23512386
    [Abstract] [Full Text] [Related]

  • 14. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
    Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV.
    Clin Endocrinol (Oxf); 1999 Jan 10; 50(1):69-75. PubMed ID: 10341858
    [Abstract] [Full Text] [Related]

  • 15. Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.
    Darcan S, Goksen D, Ozen S, Ozkinay F, Durmaz B, Lalli E.
    Horm Res Paediatr; 2011 Feb 10; 75(2):153-6. PubMed ID: 20975255
    [Abstract] [Full Text] [Related]

  • 16. Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.
    Choi JH, Park JY, Kim GH, Jin HY, Lee BH, Kim JH, Shin CH, Yang SW, Yoo HW.
    Metabolism; 2011 Nov 10; 60(11):1545-50. PubMed ID: 21632081
    [Abstract] [Full Text] [Related]

  • 17. Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
    Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG.
    Horm Res Paediatr; 2012 Nov 10; 77(2):100-7. PubMed ID: 22456342
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 171(2):267-70. PubMed ID: 21739173
    [Abstract] [Full Text] [Related]

  • 19. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
    Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P.
    Eur J Endocrinol; 2006 May 10; 154(5):685-9. PubMed ID: 16645015
    [Abstract] [Full Text] [Related]

  • 20. Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.
    Tsai WY, Tung YC.
    J Pediatr Endocrinol Metab; 2005 Oct 10; 18(10):991-7. PubMed ID: 16355812
    [Abstract] [Full Text] [Related]

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