BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 16479006)

  • 21. Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.
    Mukhopadhya A; Danda S; Huebner A; Chacko A
    World J Gastroenterol; 2006 Aug; 12(29):4764-6. PubMed ID: 16937455
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene].
    Capataz Ledesma M; Méndez Pérez P; Rodríguez López R; Galán Gómez E
    An Pediatr (Barc); 2013 Feb; 78(2):109-12. PubMed ID: 22824007
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.
    Dusek T; Korsic M; Koehler K; Perkovic Z; Huebner A; Korsic M
    Horm Res; 2006; 65(4):171-6. PubMed ID: 16543750
    [TBL] [Abstract][Full Text] [Related]  

  • 24. ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.
    Hirano M; Furiya Y; Asai H; Yasui A; Ueno S
    Proc Natl Acad Sci U S A; 2006 Feb; 103(7):2298-303. PubMed ID: 16467144
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.
    Pogliaghi G; Cangiano B; Duminuco P; Vezzoli V; Bonomi M
    Protein Pept Lett; 2020; 27(12):1192-1203. PubMed ID: 32533814
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.
    Sandrini F; Farmakidis C; Kirschner LS; Wu SM; Tullio-Pelet A; Lyonnet S; Metzger DL; Bourdony CJ; Tiosano D; Chan WY; Stratakis CA
    J Clin Endocrinol Metab; 2001 Nov; 86(11):5433-7. PubMed ID: 11701718
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical and genetic characterisation of a series of patients with triple A syndrome.
    Kurnaz E; Duminuco P; Aycan Z; Savaş-Erdeve Ş; Muratoğlu Şahin N; Keskin M; Bayramoğlu E; Bonomi M; Çetinkaya S
    Eur J Pediatr; 2018 Mar; 177(3):363-369. PubMed ID: 29255950
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
    Kunte H; Trendelenburg G; Matzen J; Ventz M; Kornak U; Harms L
    Neuro Endocrinol Lett; 2010; 31(3):301-3. PubMed ID: 20588230
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
    Roubergue A; Apartis E; Vidailhet M; Mignot C; Tullio-Pelet A; Lyonnet S; de Villemeur TB
    Mov Disord; 2004 Mar; 19(3):344-6. PubMed ID: 15022193
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
    Toromanovic A; Tahirovic H; Milenkovic T; Koehler K; Kind B; Zdravkovic D; Hasanhodzic M; Huebner A
    Eur J Pediatr; 2009 Mar; 168(3):317-20. PubMed ID: 18551317
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
    Vezzoli V; Duminuco P; Pogliaghi G; Saccone M; Cangiano B; Rosatelli MC; Meloni A; Persani L; Bonomi M
    J Endocrinol Invest; 2020 Jul; 43(7):973-982. PubMed ID: 31939195
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Triple A syndrome in Japan.
    Ikeda M; Hirano M; Shinoda K; Katsumata N; Furutama D; Nakamura K; Ikeda S; Tanaka T; Hanafusa T; Kitajima H; Kohno H; Nakagawa M; Nakamura Y; Ueno S
    Muscle Nerve; 2013 Sep; 48(3):381-6. PubMed ID: 23861206
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
    Brooks BP; Kleta R; Caruso RC; Stuart C; Ludlow J; Stratakis CA
    BMC Ophthalmol; 2004 Jun; 4():7. PubMed ID: 15217518
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
    Storr HL; Kind B; Parfitt DA; Chapple JP; Lorenz M; Koehler K; Huebner A; Clark AJ
    Mol Endocrinol; 2009 Dec; 23(12):2086-94. PubMed ID: 19855093
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
    Macke EL; Morales-Rosado JA; Macklin-Mantia SK; Schmitz CT; Oskarsson B; Klee EW; Wierenga KJ
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1966. PubMed ID: 35570467
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
    Yassaee VR; Soltani Z; Ardakani BM
    Arch Med Res; 2011 Feb; 42(2):163-8. PubMed ID: 21565631
    [TBL] [Abstract][Full Text] [Related]  

  • 37. AAA syndrome--adrenal insufficiency, alacrima and achalasia.
    Wallace IR; Hunter SJ
    QJM; 2012 Aug; 105(8):803-4. PubMed ID: 21865313
    [No Abstract]   [Full Text] [Related]  

  • 38. Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.
    Prasad R; Metherell LA; Clark AJ; Storr HL
    Endocrinology; 2013 Sep; 154(9):3209-18. PubMed ID: 23825130
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
    Milenković T; Koehler K; Krumbholz M; Zivanović S; Zdravković D; Huebner A
    Eur J Pediatr; 2008 Sep; 167(9):1049-55. PubMed ID: 18172684
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene.
    Salehi M; Houlden H; Sheikh A; Poretsky L
    Metabolism; 2005 Feb; 54(2):200-5. PubMed ID: 15690314
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.