These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 23512386)

  • 21. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 25(1-2):147-8. PubMed ID: 22570964
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.
    Mantovani RM; Pezzuti IL; Dias VM; Silva IN
    Arq Bras Endocrinol Metabol; 2009 Aug; 53(6):771-6. PubMed ID: 19893922
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 274(4):324-30. PubMed ID: 7609262
    [TBL] [Abstract][Full Text] [Related]  

  • 25. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
    Ozisik G; Mantovani G; Achermann JC; Persani L; Spada A; Weiss J; Beck-Peccoz P; Jameson JL
    J Clin Endocrinol Metab; 2003 Jan; 88(1):417-23. PubMed ID: 12519885
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 154(5):685-9. PubMed ID: 16645015
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
    Choi JH; Shin YL; Kim GH; Kim Y; Park S; Park JY; Oh C; Yoo HW
    Horm Res; 2005; 63(4):200-5. PubMed ID: 15860922
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 13(5):4039-45. PubMed ID: 27035099
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.
    Khadilkar VV; Mangtani HR; Jahagirdar RR; Khatod KA; Phadke ND; Deepa PS; Khadilkar AV
    Indian J Pediatr; 2013 Aug; 80(8):631-5. PubMed ID: 23263975
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 50(1):69-75. PubMed ID: 10341858
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 18(10):991-7. PubMed ID: 16355812
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.
    Mericq V; Ciaccio M; Marino R; Lamoglia JJ; Viterbo G; Rivarola MA; Belgorosky A
    J Pediatr Endocrinol Metab; 2007 Sep; 20(9):1039-43. PubMed ID: 18038713
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of
    Shin C; Kim SE; Moon CJ; Yoo IH; Yim J; Cho WK; Kim M; Lee JH
    Ann Clin Lab Sci; 2023 Jul; 53(4):667-670. PubMed ID: 37625843
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
    Bernard P; Ludbrook L; Queipo G; Dinulos MB; Kletter GB; Zhang YH; Phelan JK; McCabe ER; Harley VR; Vilain E
    Mol Genet Metab; 2006 Jul; 88(3):272-9. PubMed ID: 16459121
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
    Landau Z; Hanukoglu A; Sack J; Goldstein N; Weintrob N; Eliakim A; Gillis D; Sagi M; Shomrat R; Kosinovsky EB; Anikster Y
    Clin Endocrinol (Oxf); 2010 Apr; 72(4):448-54. PubMed ID: 19508677
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [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; 36(5):456-461. PubMed ID: 31030432
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 7(6):e39828. PubMed ID: 22761912
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 168(3):367-9. PubMed ID: 18604556
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.