BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 17309654)

  • 1. SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
    Annesi G; Aguglia U; Tarantino P; Annesi F; De Marco EV; Civitelli D; Torroni A; Quattrone A
    Clin Genet; 2007 Mar; 71(3):288-9. PubMed ID: 17309654
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
    Karim MA; Parsian AJ; Cleves MA; Bracey J; Elsayed MS; Elsobky E; Parsian A
    Clin Genet; 2006 Nov; 70(5):420-3. PubMed ID: 17026626
    [No Abstract]   [Full Text] [Related]  

  • 3. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.
    Aguglia U; Annesi G; Pasquinelli G; Spadafora P; Gambardella A; Annesi F; Pasqua AA; Cavalcanti F; Crescibene L; Bagalà A; Bono F; Oliveri RL; Valentino P; Zappia M; Quattrone A
    Ann Neurol; 2000 Feb; 47(2):260-4. PubMed ID: 10665502
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
    Eriguchi M; Mizuta H; Kurohara K; Fujitake J; Kuroda Y
    J Neurol Sci; 2008 Jul; 270(1-2):197-200. PubMed ID: 18395226
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
    Anttonen AK; Mahjneh I; Hämäläinen RH; Lagier-Tourenne C; Kopra O; Waris L; Anttonen M; Joensuu T; Kalimo H; Paetau A; Tranebjaerg L; Chaigne D; Koenig M; Eeg-Olofsson O; Udd B; Somer M; Somer H; Lehesjoki AE
    Nat Genet; 2005 Dec; 37(12):1309-11. PubMed ID: 16282978
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.
    Sakai K; Tada M; Yonemochi Y; Nakajima T; Onodera O; Takahashi H; Kakita A
    Neuropathology; 2008 Oct; 28(5):541-6. PubMed ID: 18410272
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
    Senderek J; Krieger M; Stendel C; Bergmann C; Moser M; Breitbach-Faller N; Rudnik-Schöneborn S; Blaschek A; Wolf NI; Harting I; North K; Smith J; Muntoni F; Brockington M; Quijano-Roy S; Renault F; Herrmann R; Hendershot LM; Schröder JM; Lochmüller H; Topaloglu H; Voit T; Weis J; Ebinger F; Zerres K
    Nat Genet; 2005 Dec; 37(12):1312-4. PubMed ID: 16282977
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
    Krieger M; Roos A; Stendel C; Claeys KG; Sonmez FM; Baudis M; Bauer P; Bornemann A; de Goede C; Dufke A; Finkel RS; Goebel HH; Häussler M; Kingston H; Kirschner J; Medne L; Muschke P; Rivier F; Rudnik-Schöneborn S; Spengler S; Inzana F; Stanzial F; Benedicenti F; Synofzik M; Lia Taratuto A; Pirra L; Tay SK; Topaloglu H; Uyanik G; Wand D; Williams D; Zerres K; Weis J; Senderek J
    Brain; 2013 Dec; 136(Pt 12):3634-44. PubMed ID: 24176978
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.
    Yiş U; Cirak S; Hız S; Cakmakçı H; Dirik E
    Pediatr Neurol; 2011 Dec; 45(6):409-11. PubMed ID: 22115007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse.
    Weitzmann A; Volkmer J; Zimmermann R
    FEBS Lett; 2006 Oct; 580(22):5237-40. PubMed ID: 16962589
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
    Van Raamsdonk JM
    Clin Genet; 2006 May; 69(5):399-400. PubMed ID: 16650075
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
    Anttonen AK; Siintola E; Tranebjaerg L; Iwata NK; Bijlsma EK; Meguro H; Ichikawa Y; Goto J; Kopra O; Lehesjoki AE
    Eur J Hum Genet; 2008 Aug; 16(8):961-9. PubMed ID: 18285827
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
    Horvers M; Anttonen AK; Lehesjoki AE; Morava E; Wortmann S; Vermeer S; van de Warrenburg BP; Willemsen MA
    Eur J Paediatr Neurol; 2013 Mar; 17(2):199-203. PubMed ID: 23062754
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.
    Cerami C; Tarantino P; Cupidi C; Annesi G; Lo Re V; Gagliardi M; Piccoli T; Quattrone A
    J Neurol Sci; 2015 Jul; 354(1-2):112-3. PubMed ID: 25982182
    [No Abstract]   [Full Text] [Related]  

  • 15. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
    Cefalù AB; Calvo PL; Noto D; Baldi M; Valenti V; Lerro P; Tramuto F; Lezo A; Morra I; Cenacchi G; Barbera C; Averna MR
    Metabolism; 2010 Apr; 59(4):463-7. PubMed ID: 19846172
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
    Ezgu F; Krejci P; Li S; de Sousa C; Graham JM; Hansmann I; He W; Porpora K; Wand D; Wertelecki W; Schneider A; Wilcox WR
    Clin Genet; 2014 Jul; 86(1):74-84. PubMed ID: 23829326
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
    Takahata T; Yamada K; Yamada Y; Ono S; Kinoshita A; Matsuzaka T; Yoshiura K; Kitaoka T
    J Hum Genet; 2010 Mar; 55(3):142-6. PubMed ID: 20111056
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.
    Schulz S; Vielhaber S; Muschke P; Mohnike K; Gooding R; Wieacker P
    Neuropediatrics; 2007 Apr; 38(2):88-90. PubMed ID: 17712737
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.
    Gai N; Jiang C; Zou YY; Zheng Y; Liang DS; Wu LQ
    Clin Chim Acta; 2016 Jul; 458():1-4. PubMed ID: 27106665
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
    Blanco-Vaca F; Martin-Campos JM; Beteta-Vicente Á; Canyelles M; Martínez S; Roig R; Farré N; Julve J; Tondo M
    Atherosclerosis; 2019 Apr; 283():52-60. PubMed ID: 30782561
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.