BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 18415699)

  • 1. Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.
    Weller S; Rosewich H; Gärtner J
    J Inherit Metab Dis; 2008 Apr; 31(2):270-80. PubMed ID: 18415699
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.
    Soliman K; Göttfert F; Rosewich H; Thoms S; Gärtner J
    Sci Rep; 2018 May; 8(1):7809. PubMed ID: 29773809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
    Grønborg S; Krätzner R; Spiegler J; Ferdinandusse S; Wanders RJ; Waterham HR; Gärtner J
    Am J Med Genet A; 2010 Nov; 152A(11):2845-9. PubMed ID: 20949532
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
    Yik WY; Steinberg SJ; Moser AB; Moser HW; Hacia JG
    Hum Mutat; 2009 Mar; 30(3):E467-80. PubMed ID: 19105186
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.
    Rosewich H; Dechent P; Krause C; Ohlenbusch A; Brockmann K; Gärtner J
    J Inherit Metab Dis; 2016 Nov; 39(6):869-876. PubMed ID: 27488561
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rational diagnostic strategy for Zellweger syndrome spectrum patients.
    Krause C; Rosewich H; Gärtner J
    Eur J Hum Genet; 2009 Jun; 17(6):741-8. PubMed ID: 19142205
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report.
    Smitthimedhin A; Otero HJ
    Clin Imaging; 2018; 49():128-130. PubMed ID: 29414506
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.
    Lipiński P; Stawiński P; Rydzanicz M; Wypchło M; Płoski R; Stradomska TJ; Jurkiewicz E; Ferdinandusse S; Wanders RJA; Vaz FM; Tylki-Szymańska A
    J Appl Genet; 2020 Feb; 61(1):87-91. PubMed ID: 31628608
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
    Steinberg S; Chen L; Wei L; Moser A; Moser H; Cutting G; Braverman N
    Mol Genet Metab; 2004 Nov; 83(3):252-63. PubMed ID: 15542397
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Germinal matrix hemorrhage in Zellweger syndrome.
    Takenouchi T; Raju GP
    J Child Neurol; 2010 Nov; 25(11):1398-400. PubMed ID: 20952722
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Zellweger syndrome - a lethal peroxisome biogenesis disorder.
    Rafique M; Zia S; Rana MN; Mostafa OA
    J Pediatr Endocrinol Metab; 2013; 26(3-4):377-9. PubMed ID: 23327810
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
    Maxwell MA; Nelson PV; Chin SJ; Paton BC; Carey WF; Crane DI
    Hum Genet; 1999; 105(1-2):38-44. PubMed ID: 10480353
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Late onset white matter disease in peroxisome biogenesis disorder.
    Barth PG; Gootjes J; Bode H; Vreken P; Majoie CB; Wanders RJ
    Neurology; 2001 Dec; 57(11):1949-55. PubMed ID: 11769739
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
    Blomqvist M; Ahlberg K; Lindgren J; Ferdinandusse S; Asin-Cayuela J
    J Med Case Rep; 2017 Aug; 11(1):218. PubMed ID: 28784167
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MR of Zellweger syndrome.
    Barkovich AJ; Peck WW
    AJNR Am J Neuroradiol; 1997; 18(6):1163-70. PubMed ID: 9194444
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
    Muntau AC; Mayerhofer PU; Paton BC; Kammerer S; Roscher AA
    Am J Hum Genet; 2000 Oct; 67(4):967-75. PubMed ID: 10958759
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
    Cheillan D
    Adv Exp Med Biol; 2020; 1299():71-80. PubMed ID: 33417208
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.
    Krause C; Rosewich H; Woehler A; Gärtner J
    Hum Mol Genet; 2013 Oct; 22(19):3844-57. PubMed ID: 23716570
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.
    Maxwell M; Bjorkman J; Nguyen T; Sharp P; Finnie J; Paterson C; Tonks I; Paton BC; Kay GF; Crane DI
    Mol Cell Biol; 2003 Aug; 23(16):5947-57. PubMed ID: 12897163
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MRI as diagnostic tool in early-onset peroxisomal disorders.
    van der Knaap MS; Wassmer E; Wolf NI; Ferreira P; Topçu M; Wanders RJ; Waterham HR; Ferdinandusse S
    Neurology; 2012 Apr; 78(17):1304-8. PubMed ID: 22459681
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.