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 *

123 related articles for article (PubMed ID: 36031376)

  • 41. Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
    Reimann J; Kohlschmidt N; Tolksdorf K; Weis J; Kuchelmeister K; Roos A
    J Neuropathol Exp Neurol; 2017 May; 76(5):337-341. PubMed ID: 28371804
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
    Goizet C; Catargi B; Tison F; Tullio-Pelet A; Hadj-Rabia S; Pujol F; Lagueny A; Lyonnet S; Lacombe D
    Neurology; 2002 Mar; 58(6):962-5. PubMed ID: 11914417
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
    Diaz J; Kane TD; Leon E
    Am J Med Genet A; 2020 Mar; 182(3):425-430. PubMed ID: 31898852
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
    Yuksel B; Braun R; Topaloglu AK; Mungan NO; Ozer G; Huebner A
    Horm Res; 2004; 61(1):3-6. PubMed ID: 14646395
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.
    Salmaggi A; Zirilli L; Pantaleoni C; De Joanna G; Del Sorbo F; Koehler K; Krumbholz M; Huebner A; Rochira V
    Horm Res; 2008; 70(6):364-72. PubMed ID: 18953174
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: double A, triple A, or quaternary A syndrome?
    Persic M; Prpić I; Huebner A; Severinski S
    J Pediatr Gastroenterol Nutr; 2001 Oct; 33(4):503-4. PubMed ID: 11698772
    [No Abstract]   [Full Text] [Related]  

  • 48. Mutant WD-repeat protein in triple-A syndrome.
    Tullio-Pelet A; Salomon R; Hadj-Rabia S; Mugnier C; de Laet MH; Chaouachi B; Bakiri F; Brottier P; Cattolico L; Penet C; Bégeot M; Naville D; Nicolino M; Chaussain JL; Weissenbach J; Munnich A; Lyonnet S
    Nat Genet; 2000 Nov; 26(3):332-5. PubMed ID: 11062474
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
    Cherif Ben Abdallah L; Lakhoua Y; Nagara M; Khiari K; Elouej S; Messaoud O; Bouyacoub Y; Romdhane L; Turki Z; Abdelhak S; Ben Abdallah N
    Horm Res Paediatr; 2014; 82(5):338-43. PubMed ID: 25247238
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
    Dumic M; Barišic N; Kusec V; Stingl K; Skegro M; Stanimirovic A; Koehler K; Huebner A
    Eur J Pediatr; 2012 Oct; 171(10):1453-9. PubMed ID: 22538409
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Two cases of Allgrove syndrome with mutations in the AAAS gene.
    Kinjo S; Takemoto M; Miyako K; Kohno H; Tanaka T; Katsumata N
    Endocr J; 2004 Oct; 51(5):473-7. PubMed ID: 15516781
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report.
    Ali S; Murad MS; Hamdan H; Nakawa W
    J Med Case Rep; 2022 Jul; 16(1):304. PubMed ID: 35902876
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.
    Cho AR; Yang KJ; Bae Y; Bahk YY; Kim E; Lee H; Kim JK; Park W; Rhim H; Choi SY; Imanaka T; Moon S; Yoon J; Yoon SK
    Exp Mol Med; 2009 Jun; 41(6):381-6. PubMed ID: 19322026
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Adult or late-onset triple A syndrome: case report and literature review.
    Nakamura K; Yoshida K; Yoshinaga T; Kodaira M; Shimojima Y; Takei Y; Morita H; Kayanuma K; Ikeda S
    J Neurol Sci; 2010 Oct; 297(1-2):85-8. PubMed ID: 20674935
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Case report of adult-onset Allgrove syndrome.
    Gilio F; Di Rezze S; Conte A; Frasca V; Iacovelli E; Marini Bettolo C; Gabriele M; Giacomelli E; Pizzuti A; Pirro C; Fattapposta F; Habib FI; Prencipe M; Inghilleri M
    Neurol Sci; 2007 Dec; 28(6):331-5. PubMed ID: 18175081
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
    Kallabi F; Ben Rebeh I; Felhi R; Sellami D; Masmoudi S; Keskes L; Kamoun H
    Horm Res Paediatr; 2016; 85(1):18-21. PubMed ID: 26595337
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A novel
    Koehler K; Milev MP; Prematilake K; Reschke F; Kutzner S; Jühlen R; Landgraf D; Utine E; Hazan F; Diniz G; Schuelke M; Huebner A; Sacher M
    J Med Genet; 2017 Mar; 54(3):176-185. PubMed ID: 27707803
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Allgrove syndrome with amyotrophy.
    Soares MC; Lins OG; Lima de Carvalho JR; de Sá CC; Van der Linden V; Covaleski APPM
    Pract Neurol; 2022 Jun; 22(3):213-215. PubMed ID: 34969826
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
    Kallabi F; Ben Rhouma B; Baklouti S; Ghorbel R; Felhi R; Keskes L; Kamoun H
    Horm Res Paediatr; 2016; 86(2):90-93. PubMed ID: 27414811
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.