BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 29982180)

  • 1. Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.
    Henneton P; Legrand A; Giunta C; Frank M
    BMJ Case Rep; 2018 Jul; 2018():. PubMed ID: 29982180
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Innominate artery involvement in type IV Ehlers-Danlos syndrome.
    Valverde A; Tricot JF; de Crepy B; Bakdach H; Djabbari K
    Ann Vasc Surg; 1991 Jan; 5(1):41-5. PubMed ID: 1997074
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections.
    Nakamura M; Yajima J; Oikawa Y; Ogasawara K; Uejima T; Abe K; Aizawa T
    J Cardiol; 2009 Jun; 53(3):458-62. PubMed ID: 19477391
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.
    Mortani Barbosa EJ; Pyeritz RE; Litt H; Desjardins B
    Am J Med Genet A; 2011 Dec; 155A(12):3090-4. PubMed ID: 22065459
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Successful endovascular treatment of delayed arterial rupture from celiac artery dissection in a patient with type IV Ehlers-Danlos syndrome.
    Colin GC; Goffette P; Beauloye C; Hammer F
    Diagn Interv Imaging; 2016 Feb; 97(2):261-3. PubMed ID: 26471911
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. A severe case of
    Foy M; Métay C; Frank M; Denarié N; Adham S; Billon C; Legrand A; Jeunemaitre X; Gillas F; Gaudon K; De Mazancourt P; Mekki A; Carlier R; Benistan K
    Clin Case Rep; 2023 Feb; 11(2):e6760. PubMed ID: 36860721
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome.
    Ascione R; Gomes WJ; Bates M; Shannon JL; Pope FM; Angelini GD
    Cardiovasc Surg; 2000 Jan; 8(1):75-8. PubMed ID: 10661708
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ehlers-Danlos Syndrome Type IV: A Case Report.
    Soo-Hoo S; Porten BR; Engstrom BI; Skeik N
    Vasc Endovascular Surg; 2016 Apr; 50(3):156-9. PubMed ID: 26975607
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
    Colman M; Vroman R; Dhooge T; Malfait Z; Symoens S; Burnyté B; Nampoothiri S; Kariminejad A; Malfait F; Syx D
    Hum Mutat; 2022 Dec; 43(12):1994-2009. PubMed ID: 36054293
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 9.