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Journal Abstract Search

202 related items for PubMed ID: 25079468

  • 1. 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; 13(3):413-9. PubMed ID: 25079468
    [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 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]

  • 4. Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
    Esden-Tempska Z, Lewczuk A, Tobias ES, Borozdin W, Kohlhase J, Sworczak K.
    J Pediatr Endocrinol Metab; 2012 Nov; 25(1-2):147-8. PubMed ID: 22570964
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.
    Rodríguez Estévez A, Pérez-Nanclares G, Fernández-Toral J, Rivas-Crespo F, López-Siguero JP, Díez I, Grau G, Castaño L.
    J Pediatr Endocrinol Metab; 2015 Sep 10; 28(9-10):1129-37. PubMed ID: 26030781
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 34(8):e235-9. PubMed ID: 21270512
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 Aug 27; 77(2):100-7. PubMed ID: 22456342
    [Abstract] [Full Text] [Related]

  • 10. 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 27; 18(10):991-7. PubMed ID: 16355812
    [Abstract] [Full Text] [Related]

  • 11. Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
    Vargas MCC, Moura FS, Elias CP, Carvalho SR, Rassi N, Kunii IS, Dias-da-Silva MR, Costa-Barbosa FA.
    BMC Endocr Disord; 2020 Feb 06; 20(1):21. PubMed ID: 32028936
    [Abstract] [Full Text] [Related]

  • 12. Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
    Ali JM, Jalaludin MY, Harun F.
    J Pediatr Endocrinol Metab; 2014 Nov 06; 27(11-12):1189-92. PubMed ID: 25003377
    [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 Nov 06; 19(4):e105-11. PubMed ID: 23512386
    [Abstract] [Full Text] [Related]

  • 14. 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 Nov 06; 5(1):55-7. PubMed ID: 23367499
    [Abstract] [Full Text] [Related]

  • 15. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
    Yu T, Wang J, Yu Y, Huang X, Fu Q, Shen Y, Chen F.
    Mol Med Rep; 2016 May 06; 13(5):4039-45. PubMed ID: 27035099
    [Abstract] [Full Text] [Related]

  • 16. A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.
    Ozer EA, Kaya A, Yildirimer M, Guler O, Can S, Aydinlioglu H.
    Eur J Pediatr; 2009 Mar 06; 168(3):367-9. PubMed ID: 18604556
    [Abstract] [Full Text] [Related]

  • 17. 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 06; 171(2):267-70. PubMed ID: 21739173
    [Abstract] [Full Text] [Related]

  • 18. Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
    Zhu F, Zhou M, Deng X, Li Y, Xiong J.
    Front Endocrinol (Lausanne); 2022 Feb 06; 13():897069. PubMed ID: 35784540
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.
    Minari R, Vottero A, Tassi F, Viani I, Neri TM, Street ME, Ghizzoni L, Bernasconi S, Martorana D.
    Hormones (Athens); 2015 Feb 06; 14(1):160-6. PubMed ID: 25402384
    [Abstract] [Full Text] [Related]

  • 20. Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.
    Galeotti C, Lahlou Z, Goullon D, Sarda-Thibault H, Cahen-Varsaux J, Bignon-Topalovic J, Bashamboo A, McElreavey K, Brauner R.
    PLoS One; 2012 Feb 06; 7(6):e39828. PubMed ID: 22761912
    [Abstract] [Full Text] [Related]

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