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 *

183 related articles for article (PubMed ID: 15666309)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.
    Eyre D; Shao P; Weis MA; Steinmann B
    Mol Genet Metab; 2002 Jul; 76(3):211-6. PubMed ID: 12126935
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.
    Ruiz-Botero F; Ramírez-Montaño D; Pachajoa H
    Arch Argent Pediatr; 2019 Jun; 117(3):e274-e278. PubMed ID: 31063316
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.
    Takaluoma K; Hyry M; Lantto J; Sormunen R; Bank RA; Kivirikko KI; Myllyharju J; Soininen R
    J Biol Chem; 2007 Mar; 282(9):6588-96. PubMed ID: 17197443
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
    Baumann M; Giunta C; Krabichler B; Rüschendorf F; Zoppi N; Colombi M; Bittner RE; Quijano-Roy S; Muntoni F; Cirak S; Schreiber G; Zou Y; Hu Y; Romero NB; Carlier RY; Amberger A; Deutschmann A; Straub V; Rohrbach M; Steinmann B; Rostásy K; Karall D; Bönnemann CG; Zschocke J; Fauth C
    Am J Hum Genet; 2012 Feb; 90(2):201-16. PubMed ID: 22265013
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.