BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 22713205)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
    Sadakata R; Hatamochi A; Kodama K; Kaga A; Yamaguchi T; Soma T; Usui Y; Nagata M; Ohtake A; Hagiwara K; Kanazawa M
    Intern Med; 2010; 49(16):1797-800. PubMed ID: 20720362
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
    Yang JH; Lee ST; Kim JA; Kim SH; Jang SY; Ki CS; Kim DK
    J Korean Med Sci; 2007 Aug; 22(4):698-705. PubMed ID: 17728513
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
    Hassan I; Rasmussen TE; Schwarze U; Rose PS; Whiteman DA; Gloviczki P
    Mayo Clin Proc; 2002 Aug; 77(8):861-3. PubMed ID: 12173720
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
    Gilchrist D; Schwarze U; Shields K; MacLaren L; Bridge PJ; Byers PH
    Am J Med Genet; 1999 Feb; 82(4):305-11. PubMed ID: 10051163
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
    Pepin M; Schwarze U; Superti-Furga A; Byers PH
    N Engl J Med; 2000 Mar; 342(10):673-80. PubMed ID: 10706896
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
    Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH
    Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. [Vascular Ehlers-Danlos syndrome].
    Frank M
    Rev Prat; 2009 Apr; 59(4):459-61. PubMed ID: 19462862
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.
    Güven S; Kule O; Güleş D; Okumuş H; Oruç M; Celbiş O
    J Forensic Leg Med; 2020 Jul; 73():101969. PubMed ID: 32442117
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
    Drera B; Zoppi N; Ritelli M; Tadini G; Venturini M; Wischmeijer A; Nicolazzi MA; Musumeci A; Penco S; Buscemi L; Crivelli S; Danesino C; Clementi M; Calzavara-Pinton P; Viglio S; Valli M; Barlati S; Colombi M
    J Dermatol Sci; 2011 Dec; 64(3):237-40. PubMed ID: 22019127
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.