BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 1514415)

  • 1. Marinesco-Sjögren syndrome: report of one case.
    Chou YH; Lin MY; Wang PJ; Wang TR; Shen YZ
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1992; 33(3):212-7. PubMed ID: 1514415
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. [Marinesco-Sjögren syndrome--report of two patients in a family with muscle CT study].
    Higuchi S; Taku K; Fukuhara N; Hozumi I; Yamazaki M
    Rinsho Shinkeigaku; 1993 Jan; 33(1):89-91. PubMed ID: 8334784
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuro-otological findings in a case of Marinesco-Sjögren syndrome with nystagmus.
    Yoshimoto Y
    Auris Nasus Larynx; 1987; 14(3):171-6. PubMed ID: 3482781
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Myopathy in Marinesco-Sjogren syndrome.
    Superneau DW; Wertelecki W; Zellweger H; Bastian F
    Eur Neurol; 1987; 26(1):8-16. PubMed ID: 3469098
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Muscle pathology in Marinesco-Sjögren syndrome.
    Komiyama A; Nonaka I; Hirayama K
    J Neurol Sci; 1989 Jan; 89(1):103-13. PubMed ID: 2522540
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
    Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M
    Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
    Berio A; Piazzi A
    Pediatr Med Chir; 1996; 18(1):99-103. PubMed ID: 8685033
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia.
    Fukuda S; Yamada Y; Nishimura M; Isogai K; Terada T; Iwata M; Shimozawa N; Suzuki Y; Kondo N
    Clin Genet; 1997 Apr; 51(4):278-80. PubMed ID: 9184254
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.
    Williams TE; Buchhalter JR; Sussman MD
    Pediatr Neurol; 1996 Feb; 14(2):158-61. PubMed ID: 8703231
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.
    Nair P; Hamzeh AR; Mohamed M; Tawfiq N; Al-Ali MT; Bastaki F
    Med Princ Pract; 2016; 25(6):580-582. PubMed ID: 27544240
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rapid cataract formation in Marinesco-Sjögren syndrome.
    Ishikawa T; Kitoh H; Awaya A; Nonaka I
    Pediatr Neurol; 1993; 9(5):407-8. PubMed ID: 8292220
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. [Marinesco Sjögren syndrome].
    Komiyama A; Kuroiwa Y
    Ryoikibetsu Shokogun Shirizu; 1999; (27 Pt 2):299-302. PubMed ID: 10434657
    [No Abstract]   [Full Text] [Related]  

  • 20. Orthopaedic manifestations of Marinesco-Sjögren syndrome.
    Reinker K; Hsia YE; Rimoin DL; Henry G; Yuen J; Powell B; Wilcox WR
    J Pediatr Orthop; 2002; 22(3):399-403. PubMed ID: 11961464
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.