BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 18815038)

  • 1. 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]  

  • 2. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).
    Yiş U; Dirik E; Chambaz C; Steinmann B; Giunta C
    Neuromuscul Disord; 2008 Mar; 18(3):210-4. PubMed ID: 18155911
    [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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
    van Dijk FS; Mancini GMS; Maugeri A; Cobben JM
    Eur J Med Genet; 2017 Oct; 60(10):536-540. PubMed ID: 28757364
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Type VI Ehler Danlos Syndrome.
    Parikh F; Sivaramakrishnan A; Pai-dhungat JV
    J Assoc Physicians India; 2004 Aug; 52():631. PubMed ID: 15847358
    [No Abstract]   [Full Text] [Related]  

  • 9. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
    Rohrbach M; Vandersteen A; Yiş U; Serdaroglu G; Ataman E; Chopra M; Garcia S; Jones K; Kariminejad A; Kraenzlin M; Marcelis C; Baumgartner M; Giunta C
    Orphanet J Rare Dis; 2011 Jun; 6():46. PubMed ID: 21699693
    [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. 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]  

  • 12. 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]  

  • 13. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
    Giunta C; Randolph A; Al-Gazali LI; Brunner HG; Kraenzlin ME; Steinmann B
    Am J Med Genet A; 2005 Mar; 133A(2):158-64. PubMed ID: 15666309
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
    Conti R; Zanchi C; Barbi E
    Ital J Pediatr; 2021 Feb; 47(1):28. PubMed ID: 33579342
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.
    Yeowell HN; Walker LC; Murad S; Pinnell SR
    Arch Biochem Biophys; 1997 Nov; 347(1):126-31. PubMed ID: 9344473
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome.
    Zhao Y; Sun J; Chen Y; Hu Y; Gong X; Ma L
    Eur J Med Genet; 2021 Sep; 64(9):104269. PubMed ID: 34161861
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
    Abdalla EM; Rohrbach M; Bürer C; Kraenzlin M; El-Tayeby H; Elbelbesy MF; Nabil A; Giunta C
    Eur J Pediatr; 2015 Jan; 174(1):105-12. PubMed ID: 25277362
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.