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 *

151 related articles for article (PubMed ID: 14713216)

  • 1. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
    Shimozawa N; Nagase T; Takemoto Y; Suzuki Y; Kondo N
    Adv Exp Med Biol; 2003; 544():71. PubMed ID: 14713216
    [No Abstract]   [Full Text] [Related]  

  • 2. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
    Shimozawa N; Nagase T; Takemoto Y; Ohura T; Suzuki Y; Kondo N
    Am J Med Genet A; 2003 Jul; 120A(1):40-3. PubMed ID: 12794690
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Phenotype--genotype relationships in peroxisome biogenesis disorders].
    Shimozawa N
    No To Shinkei; 2001 May; 53(5):411-20. PubMed ID: 11424351
    [No Abstract]   [Full Text] [Related]  

  • 4. Peroxisomal disorders.
    Raymond GV
    Curr Opin Pediatr; 1999 Dec; 11(6):572-6. PubMed ID: 10590918
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
    Warren DS; Morrell JC; Moser HW; Valle D; Gould SJ
    Am J Hum Genet; 1998 Aug; 63(2):347-59. PubMed ID: 9683594
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
    Phadke SR; Gupta N; Girisha KM; Kabra M; Maeda M; Vidal E; Moser A; Steinberg S; Puri RD; Verma IC; Braverman N
    J Appl Genet; 2010; 51(1):107-10. PubMed ID: 20145307
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
    Warren DS; Wolfe BD; Gould SJ
    Hum Mutat; 2000; 15(6):509-21. PubMed ID: 10862081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Peroxisome biogenesis disorders.
    Steinberg SJ; Dodt G; Raymond GV; Braverman NE; Moser AB; Moser HW
    Biochim Biophys Acta; 2006 Dec; 1763(12):1733-48. PubMed ID: 17055079
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
    Kanzawa N; Shimozawa N; Wanders RJ; Ikeda K; Murakami Y; Waterham HR; Mukai S; Fujita M; Maeda Y; Taguchi R; Fujiki Y; Kinoshita T
    J Lipid Res; 2012 Apr; 53(4):653-63. PubMed ID: 22253471
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.
    Zhang C; Zhan FX; Tian WT; Xu YQ; Zhu ZY; Wang Y; Song XW; Cao L
    Clin Neurol Neurosurg; 2019 Feb; 177():92-96. PubMed ID: 30640048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Incidence of peroxisomal disorders in Japan.
    Suzuki Y; Shimozawa N; Yajima S; Inoue K; Orii T; Kondo N
    Jpn J Hum Genet; 1996 Mar; 41(1):167-75. PubMed ID: 8914632
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic variability (heterogeneity) of peroxisomal disorders.
    Mandel H; Korman SH
    Adv Exp Med Biol; 2003; 544():9-30. PubMed ID: 14713208
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
    Yamashita T; Mitsui J; Shimozawa N; Takashima S; Umemura H; Sato K; Takemoto M; Hishikawa N; Ohta Y; Matsukawa T; Ishiura H; Yoshimura J; Doi K; Morishita S; Tsuji S; Abe K
    J Neurol Sci; 2017 Apr; 375():424-429. PubMed ID: 28320181
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
    Turner CL; Bunyan DJ; Thomas NS; Mackay DJ; Jones HP; Waterham HR; Wanders RJ; Temple IK
    Am J Med Genet A; 2007 Sep; 143A(18):2172-7. PubMed ID: 17702006
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
    Braverman N; Chen L; Lin P; Obie C; Steel G; Douglas P; Chakraborty PK; Clarke JT; Boneh A; Moser A; Moser H; Valle D
    Hum Mutat; 2002 Oct; 20(4):284-97. PubMed ID: 12325024
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
    Braverman N; Steel G; Lin P; Moser A; Moser H; Valle D
    Genomics; 2000 Jan; 63(2):181-92. PubMed ID: 10673331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
    Brites P; Motley A; Hogenhout E; Hettema E; Wijburg F; Heijmans HS; Tabak HF; Distel B; Wanders RJ
    J Inherit Metab Dis; 1998 Jun; 21(3):306-8. PubMed ID: 9686382
    [No Abstract]   [Full Text] [Related]  

  • 20. Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders.
    van der Hoek YY; Wanders RJ; van den Ende AE; Kraft HG; Gabel BR; Kastelein JJ; Koschinsky ML
    J Lipid Res; 1997 Aug; 38(8):1612-9. PubMed ID: 9300783
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.