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Journal Abstract Search

141 related items for PubMed ID: 21488282

  • 1. Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia.
    Mueller OT, Coovadia A.
    Hum Genet; 2010 Apr; 127(4):473. PubMed ID: 21488282
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  • 4. Novel human pathological mutations. Gene symbol: NR0B1. Disease: Adrenal Hypoplasia.
    Mueller OT, Coovadia A.
    Hum Genet; 2010 Jan; 127(1):120. PubMed ID: 20108433
    [No Abstract] [Full Text] [Related]

  • 5. 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
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  • 7. X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
    Abraham MB, Shetty VB, McKenzie F, Curran J.
    Indian Pediatr; 2016 Jun 08; 53(6):529-31. PubMed ID: 27376611
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  • 8. 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 08; 60(11):1545-50. PubMed ID: 21632081
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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 08; 27(3-4):343-7. PubMed ID: 24197767
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  • 10. [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 08; 30(1):123-5. PubMed ID: 23450496
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  • 11. A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.
    Gerster K, Katschnig C, Wyss S, Kolly A, Sproll P, Biason-Lauber A, Konrad D.
    J Pediatr Endocrinol Metab; 2017 Nov 27; 30(12):1321-1325. PubMed ID: 29087957
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  • 12. 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 27; 28(7-8):809-14. PubMed ID: 25968435
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  • 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; 27(11-12):1189-92. PubMed ID: 25003377
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  • 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 27; 161A(8):2105-7. PubMed ID: 23824603
    [No Abstract] [Full Text] [Related]

  • 15. Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
    Fan DB, Li L, Zhang HH.
    Sci Rep; 2021 Aug 09; 11(1):16066. PubMed ID: 34373561
    [Abstract] [Full Text] [Related]

  • 16. 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 09; 77(2):100-7. PubMed ID: 22456342
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  • 17. 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 Aug 09; 25(1-2):147-8. PubMed ID: 22570964
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  • 18. 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 09; 75(2):153-6. PubMed ID: 20975255
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  • 19. 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 09; 7(6):e39828. PubMed ID: 22761912
    [Abstract] [Full Text] [Related]

  • 20. X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.
    Pereira BD, Pereira I, Portugal JR, Gonçalves J, Raimundo L.
    Arch Endocrinol Metab; 2015 Apr 09; 59(2):181-5. PubMed ID: 25993682
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