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 *

88 related articles for article (PubMed ID: 11914396)

  • 1. ALADIN, but where's the genie?
    Orrell RW; Clark AJ
    Neurology; 2002 Mar; 58(6):847-8. PubMed ID: 11914396
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy.
    Iwanczak F; Smigiel R; Blitek A; Huebner A
    J Pediatr Gastroenterol Nutr; 2005 Jan; 40(1):87-9. PubMed ID: 15625433
    [No Abstract]   [Full Text] [Related]  

  • 4. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
    Huebner A; Kaindl AM; Knobeloch KP; Petzold H; Mann P; Koehler K
    Endocr Res; 2004 Nov; 30(4):891-9. PubMed ID: 15666842
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.
    Cronshaw JM; Matunis MJ
    Proc Natl Acad Sci U S A; 2003 May; 100(10):5823-7. PubMed ID: 12730363
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].
    van Daele PL; de Herder WW; Huebner A
    Ned Tijdschr Geneeskd; 2002 Nov; 146(48):2295-7. PubMed ID: 12497758
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.
    Di Nardo G; Tullio-Pelet A; Annese V; Stanghellini V; Barbara G; Latiano A; Andriulli A; Cremon C; Salvioli B; Volta U; Corinaldesi R; Lyonnet S; De Giorgio R
    Dig Liver Dis; 2005 May; 37(5):312-5. PubMed ID: 15843079
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Esophageal achalasia and alacrima in siblings.
    Singh A; Shah A
    Indian Pediatr; 2006 Feb; 43(2):161-3. PubMed ID: 16528113
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.
    Huebner A; Mann P; Rohde E; Kaindl AM; Witt M; Verkade P; Jakubiczka S; Menschikowski M; Stoltenburg-Didinger G; Koehler K
    Mol Cell Biol; 2006 Mar; 26(5):1879-87. PubMed ID: 16479006
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic heterogeneity in AAAS gene mutation.
    Barat P; Goizet C; Tullio-Pelet A; Puel O; Labessan C; Barthelemy A
    Acta Paediatr; 2004 Sep; 93(9):1257-9. PubMed ID: 15384895
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
    Krumbholz M; Koehler K; Huebner A
    Biochem Cell Biol; 2006 Apr; 84(2):243-9. PubMed ID: 16609705
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.
    Krull I; M-Woelfle M; Bärlocher K; Koehler K; Huebner A; Brändle M
    Exp Clin Endocrinol Diabetes; 2010 Aug; 118(8):530-6. PubMed ID: 20200814
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Association of chronic symptomatic neutropenia with the triple A syndrome.
    Spiegel R; Shalev S; Huebner A; Horovitz Y
    J Pediatr Hematol Oncol; 2005 Jan; 27(1):53-5. PubMed ID: 15654281
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. [Allgrove syndrome in the mainland of China: clinical report and mutation analysis].
    Gong CX; Wen YR; Zhao XL; Su C; Cao BY; Zhang X
    Zhonghua Er Ke Za Zhi; 2007 Jun; 45(6):422-5. PubMed ID: 17880786
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.