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Journal Abstract Search

142 related items for PubMed ID: 21739173

  • 1. 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; 171(2):267-70. PubMed ID: 21739173
    [Abstract] [Full Text] [Related]

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

  • 3. 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
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  • 4. 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 Feb; 19(4):e105-11. PubMed ID: 23512386
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  • 5. 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
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  • 6. 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
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  • 7. [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
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  • 9. 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]

  • 10. [A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation].
    Yin Z, Jin W, Xu W, Li H, Zhang S, Peng L, Chen X, Peng G, Han L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May 10; 36(5):456-461. PubMed ID: 31030432
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  • 12. [Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita].
    Xiao Y, Yang J, Zhang HJ, Wang W, Li XY, Wang DF, Dong ZY, Wang XM.
    Zhonghua Er Ke Za Zhi; 2007 Dec 10; 45(12):937-41. PubMed ID: 18339285
    [Abstract] [Full Text] [Related]

  • 13. 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 Dec 10; 25(1-2):147-8. PubMed ID: 22570964
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  • 15. 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 10; 54(2):225-30. PubMed ID: 23378245
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  • 17. 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 10; 161A(8):2105-7. PubMed ID: 23824603
    [No Abstract] [Full Text] [Related]

  • 18. 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 10; 27(3-4):343-7. PubMed ID: 24197767
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 06; 28(9-10):1129-37. PubMed ID: 26030781
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