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Journal Abstract Search

147 related items for PubMed ID: 21925982

  • 1. 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]

  • 2. 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; 57(7):562-5. PubMed ID: 24232823
    [Abstract] [Full Text] [Related]

  • 3. 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; 75(2):153-6. PubMed ID: 20975255
    [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. 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(3-4):343-7. PubMed ID: 24197767
    [Abstract] [Full Text] [Related]

  • 6. [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]

  • 7. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.
    Zhang Z, Feng Y, Ye D, Li CJ, Dong FQ, Tong Y.
    J Zhejiang Univ Sci B; 2015 Nov; 16(11):963-8. PubMed ID: 26537215
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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; 60(11):1545-50. PubMed ID: 21632081
    [Abstract] [Full Text] [Related]

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

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

  • 12. 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]

  • 13. 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; 27(11-12):1189-92. PubMed ID: 25003377
    [Abstract] [Full Text] [Related]

  • 14. 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; 161A(8):2105-7. PubMed ID: 23824603
    [No Abstract] [Full Text] [Related]

  • 15. Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency.
    Fichna M, Zurawek M, Gut P, Sowiński J, Nowak J.
    Ann Endocrinol (Paris); 2010 Sep; 71(4):309-13. PubMed ID: 20542258
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.
    Bergadá I, Andreone L, Bedecarrás P, Ropelato MG, Copelli S, Laissue P, Rey RA, Campo S.
    Clin Endocrinol (Oxf); 2008 Feb 15; 68(2):240-6. PubMed ID: 17803711
    [Abstract] [Full Text] [Related]

  • 19. The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis.
    Ponikwicka-Tyszko D, Kotula-Balak M, Jarzabek K, Bilinska B, Wolczynski S.
    J Assist Reprod Genet; 2012 Aug 15; 29(8):811-6. PubMed ID: 22562240
    [No Abstract] [Full Text] [Related]

  • 20. Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.
    Khalili S, Zakeri A, Hadaegh F, Zadeh SST.
    Endocr Metab Immune Disord Drug Targets; 2024 Aug 15; 24(14):1704-1708. PubMed ID: 38409716
    [Abstract] [Full Text] [Related]

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