BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 23158907)

  • 1. Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
    Melis D; Cappuccio G; Ginocchio VM; Minopoli G; Valli M; Corradi M; Andria G
    Ital J Pediatr; 2012 Nov; 38():65. PubMed ID: 23158907
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
    Guarnieri V; Morlino S; Di Stolfo G; Mastroianno S; Mazza T; Castori M
    Am J Med Genet A; 2019 May; 179(5):846-851. PubMed ID: 30821104
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
    Klaassens M; Reinstein E; Hilhorst-Hofstee Y; Schrander JJ; Malfait F; Staal H; ten Have LC; Blaauw J; Roggeveen HC; Krakow D; De Paepe A; van Steensel MA; Pals G; Graham JM; Schrander-Stumpel CT
    Clin Genet; 2012 Aug; 82(2):121-30. PubMed ID: 21801164
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.
    Hatamochi A; Hamada T; Yoshino M; Hashimoto T
    Gene; 2014 Mar; 538(1):199-203. PubMed ID: 24440294
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
    Castori M; Dordoni C; Morlino S; Sperduti I; Ritelli M; Valiante M; Chiarelli N; Zanca A; Celletti C; Venturini M; Camerota F; Calzavara-Pinton P; Grammatico P; Colombi M
    Am J Med Genet C Semin Med Genet; 2015 Mar; 169C(1):43-53. PubMed ID: 25655071
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
    Duong J; Rideout A; MacKay S; Beis J; Parkash S; Schwarze U; Horne SG; Vandersteen A
    Eur J Med Genet; 2020 Feb; 63(2):103730. PubMed ID: 31323331
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
    Schwarze U; Hata R; McKusick VA; Shinkai H; Hoyme HE; Pyeritz RE; Byers PH
    Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
    Demirdas S; Dulfer E; Robert L; Kempers M; van Beek D; Micha D; van Engelen BG; Hamel B; Schalkwijk J; Loeys B; Maugeri A; Voermans NC
    Clin Genet; 2017 Mar; 91(3):411-425. PubMed ID: 27582382
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
    Ayoub S; Ghali N; Angwin C; Baker D; Baffini S; Brady AF; Giovannucci Uzielli ML; Giunta C; Johnson DS; Kosho T; Neas K; Pope FM; Rutsch F; Scarselli G; Sobey G; Vandersteen A; van Dijk FS
    Am J Med Genet A; 2020 May; 182(5):994-1007. PubMed ID: 32091183
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
    Martín-Martín M; Cortés-Martín J; Tovar-Gálvez MI; Sánchez-García JC; Díaz-Rodríguez L; Rodríguez-Blanque R
    Int J Environ Res Public Health; 2022 Feb; 19(3):. PubMed ID: 35162892
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?
    Castori M
    Am J Med Genet C Semin Med Genet; 2015 Dec; 169(4):289-92. PubMed ID: 26452443
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
    Takeda R; Yamaguchi T; Hayashi S; Sano S; Kawame H; Kanki S; Taketani T; Yoshimura H; Nakamura Y; Kosho T
    Am J Med Genet A; 2022 Sep; 188(9):2560-2575. PubMed ID: 35822426
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
    Syx D; De Wandele I; Symoens S; De Rycke R; Hougrand O; Voermans N; De Paepe A; Malfait F
    Hum Mol Genet; 2019 Jun; 28(11):1853-1864. PubMed ID: 30668708
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ehlers-Danlos syndrome type VII: phenotype and genotype.
    Lehmann HW; Mundlos S; Winterpacht A; Brenner RE; Zabel B; Müller PK
    Arch Dermatol Res; 1994; 286(8):425-8. PubMed ID: 7864655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
    Damseh N; Dupuis L; O'Connor C; Oh RY; Wang YW; Stavropoulos DJ; Schwartz SB; Mendoza-Londono R
    Am J Med Genet A; 2022 May; 188(5):1376-1383. PubMed ID: 35128800
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
    Colombi M; Dordoni C; Venturini M; Ciaccio C; Morlino S; Chiarelli N; Zanca A; Calzavara-Pinton P; Zoppi N; Castori M; Ritelli M
    Clin Genet; 2017 Dec; 92(6):624-631. PubMed ID: 28485813
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
    Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
    J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
    Byers PH; Duvic M; Atkinson M; Robinow M; Smith LT; Krane SM; Greally MT; Ludman M; Matalon R; Pauker S; Quanbeck D; Schwarze U
    Am J Med Genet; 1997 Oct; 72(1):94-105. PubMed ID: 9295084
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
    Colombi M; Dordoni C; Chiarelli N; Ritelli M
    Am J Med Genet C Semin Med Genet; 2015 Mar; 169C(1):6-22. PubMed ID: 25821090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.
    Chiu WC; Chen SH; Lo MC; Kuo YT
    BMC Pediatr; 2020 Oct; 20(1):495. PubMed ID: 33109150
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.