BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

348 related articles for article (PubMed ID: 21549076)

  • 1. Vascular Ehlers-Danlos syndrome: a case with fatal outcome.
    Morais P; Mota A; Eloy C; Lopes JM; Torres F; Palmeiro A; Tavares P; Azevedo F
    Dermatol Online J; 2011 Apr; 17(4):1. PubMed ID: 21549076
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
    Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A
    Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
    Shimaoka Y; Kosho T; Wataya-Kaneda M; Funakoshi M; Suzuki T; Hayashi S; Mitsuhashi Y; Isei T; Aoki Y; Yamazaki K; Ono M; Makino K; Tanaka T; Kunii E; Hatamochi A
    Br J Dermatol; 2010 Oct; 163(4):704-10. PubMed ID: 20518783
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
    Shalhub S; Byers PH; Hicks KL; Coleman DM; Davis FM; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Charlton-Ouw K; Behrendt CA; Debus ES; von Kodolitsch Y; Zarkowsky D; Powell RJ; Pepin M; Milewicz DM; Regalado ES; Lawrence PF; Woo K
    J Vasc Surg; 2020 Jan; 71(1):149-157. PubMed ID: 31353273
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
    Beridze N; Frishman WH
    Cardiol Rev; 2012; 20(1):4-7. PubMed ID: 22143279
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ehlers-Danlos syndrome type IV with gastric adenocarcinoma.
    Kanechorn Na Ayuthaya R; Patthamapasphong N; Sura T; Niumpradit N; Trachoo O
    J Med Assoc Thai; 2008; 91 Suppl 1():S166-71. PubMed ID: 18672610
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
    Eder J; Laccone F; Rohrbach M; Giunta C; Aumayr K; Reichel C; Trautinger F
    Exp Dermatol; 2013 Mar; 22(3):231-4. PubMed ID: 23489429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.
    Naing BT; Watanabe A; Shimada T
    Biochem Biophys Res Commun; 2011 Feb; 405(3):368-72. PubMed ID: 21219851
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
    Gu G; Yang H; Cui L; Fu Y; Li F; Zhou Z; Zheng Y
    Vasc Endovascular Surg; 2018 Feb; 52(2):138-142. PubMed ID: 29216800
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
    Rebelo M; Ramos L; Lima J; Vieira JD; Tavares P; Teixeira L; Matos A; Costa JN
    Acta Med Port; 2011; 24(6):1079-86. PubMed ID: 22713205
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations.
    Demirogullari B; Karabulut R; Demirtola A; Karabulut B; Gol IH; Aybay C; Symoens S; Sonmez K; Basaklar AC; Kale N
    J Pediatr Surg; 2006 Aug; 41(8):e27-30. PubMed ID: 16863833
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
    Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
    J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
    Deng Y; Wei S; Hu S; Chen J; Tan Z; Yang Y
    Mol Med Rep; 2015 Jul; 12(1):1119-24. PubMed ID: 25776230
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies.
    Moore MM; Votava JM; Orlow SJ; Schaffer JV
    J Am Acad Dermatol; 2006 Aug; 55(2 Suppl):S41-5. PubMed ID: 16843123
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV.
    Dohle C; Baehring JM
    J Neurol Sci; 2012 Jul; 318(1-2):168-70. PubMed ID: 22559935
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
    Okamoto O; Ando T; Watanabe A; Sato F; Mimata H; Shimada T; Fujiwara S
    Arch Dermatol Res; 2008 Oct; 300(9):525-9. PubMed ID: 18779970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].
    Chen B; Guan YQ; Wu XL; Qi YX; Yu HX; Li JX; Zhang J
    Zhonghua Yi Xue Za Zhi; 2011 Apr; 91(16):1122-4. PubMed ID: 21609597
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ehlers-Danlos syndrome--vascular type (ecchymotic variant): cutaneous and dermatopathologic features.
    Sharma NL; Mahajan VK; Gupta N; Ranjan N; Lath A
    J Cutan Pathol; 2009 Apr; 36(4):486-92. PubMed ID: 19278438
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
    Wan T; Ye J; Wu P; Cheng M; Jiang B; Wang H; Li J; Ma J; Wang L; Huang X
    BMC Pulm Med; 2020 May; 20(1):149. PubMed ID: 32471395
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
    Cortini F; Marinelli B; Seia M; De Giorgio B; Pesatori AC; Montano N; Bassotti A
    J Med Case Rep; 2016 Oct; 10(1):303. PubMed ID: 27799058
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.