BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

116 related articles for article (PubMed ID: 19320026)

  • 1. Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
    Giunta C; Bürer-Chambaz C; Steinmann B
    Hum Genet; 2009 Apr; 125(3):346. PubMed ID: 19320026
    [No Abstract]   [Full Text] [Related]  

  • 2. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
    Heikkinen J; Hautala T; Kivirikko KI; Myllylä R
    Genomics; 1994 Dec; 24(3):464-71. PubMed ID: 7713497
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
    Giunta C; Randolph A; Steinmann B
    Mol Genet Metab; 2005; 86(1-2):269-76. PubMed ID: 15979919
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
    Yeowell HN; Walker LC
    Mol Genet Metab; 2000; 71(1-2):212-24. PubMed ID: 11001813
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
    Tosun A; Kurtgoz S; Dursun S; Bozkurt G
    Pediatr Neurol; 2014 Oct; 51(4):566-9. PubMed ID: 25266621
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
    Yeowell HN; Walker LC; Neumann LM
    Eur J Dermatol; 2005; 15(5):353-8. PubMed ID: 16172044
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
    Pousi B; Hautala T; Hyland JC; Schröter J; Eckes B; Kivirikko KI; Myllylä R
    Hum Mutat; 1998; 11(1):55-61. PubMed ID: 9450904
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
    Pajunen L; Suokas M; Hautala T; Kellokumpu S; Tebbe B; Kivirikko KI; Myllylä R
    DNA Cell Biol; 1998 Feb; 17(2):117-23. PubMed ID: 9502428
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
    Yeowell HN; Walker LC; Farmer B; Heikkinen J; Myllyla R
    Hum Mutat; 2000 Jul; 16(1):90. PubMed ID: 10874315
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN; Walker LC
    Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
    Hyland J; Ala-Kokko L; Royce P; Steinmann B; Kivirikko KI; Myllylä R
    Nat Genet; 1992 Nov; 2(3):228-31. PubMed ID: 1345174
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of Ehlers Danlos syndrome type VI.
    Salavoura K; Valari M; Kolialexi A; Mavrou A; Kitsiou S
    Genet Couns; 2006; 17(3):291-4. PubMed ID: 17100196
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.
    Heikkinen J; Pousi B; Pope M; Myllylä R
    Hum Mutat; 1999 Oct; 14(4):351. PubMed ID: 10502784
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.
    Ni X; Jin C; Jiang Y; Wang O; Li M; Xing X; Xia W
    BMC Med Genet; 2020 Oct; 21(1):214. PubMed ID: 33129265
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.
    Pousi B; Heikkinen J; Schröter J; Pope M; Myllylä R
    Mutat Res; 2000 Feb; 432(1-2):33-7. PubMed ID: 10729709
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between
    Lim PJ; Lindert U; Opitz L; Hausser I; Rohrbach M; Giunta C
    Genes (Basel); 2019 Jul; 10(7):. PubMed ID: 31288483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.
    Shin YL; Park YN; Jang MA
    J Korean Med Sci; 2020 Mar; 35(10):e96. PubMed ID: 32174067
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).
    Voermans NC; van Engelen BG
    Neuromuscul Disord; 2008 Nov; 18(11):906; author reply 907. PubMed ID: 18815038
    [No Abstract]   [Full Text] [Related]  

  • 19. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
    Heikkinen J; Toppinen T; Yeowell H; Krieg T; Steinmann B; Kivirikko KI; Myllylä R
    Am J Hum Genet; 1997 Jan; 60(1):48-56. PubMed ID: 8981946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC; Marini JC; Grange DK; Filie J; Yeowell HN
    Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.