BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 32091183)

  • 21. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
    Mackenroth L; Fischer-Zirnsak B; Egerer J; Hecht J; Kallinich T; Stenzel W; Spors B; von Moers A; Mundlos S; Kornak U; Gerhold K; Horn D
    Am J Med Genet A; 2016 Apr; 170A(4):1080-5. PubMed ID: 26799614
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
    Symoens S; Steyaert W; Demuynck L; De Paepe A; Diderich KE; Malfait F; Coucke PJ
    Am J Med Genet A; 2017 Apr; 173(4):1047-1050. PubMed ID: 28261977
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
    Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
    J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
    Ha ZY; Chijiwa C; Lewis S
    Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674395
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.
    Sokolov BP; Prytkov AN; Tromp G; Knowlton RG; Prockop DJ
    Hum Genet; 1991 Dec; 88(2):125-9. PubMed ID: 1684560
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
    Malfait F; Wenstrup RJ; De Paepe A
    Genet Med; 2010 Oct; 12(10):597-605. PubMed ID: 20847697
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
    Malfait F; Coucke P; Symoens S; Loeys B; Nuytinck L; De Paepe A
    Hum Mutat; 2005 Jan; 25(1):28-37. PubMed ID: 15580559
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study.
    Aghajanyan A; Fucic A; Tskhovrebova L; Gigani O; Konjevoda P
    Eur J Med Genet; 2019 Nov; 62(11):103546. PubMed ID: 30342098
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.
    Morabito LA; Allegri AEM; Capra AP; Capasso M; Capra V; Garaventa A; Maghnie M; Briuglia S; Wasniewska MG
    Genes (Basel); 2022 Mar; 13(4):. PubMed ID: 35456387
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
    Chiarelli N; Carini G; Zoppi N; Dordoni C; Ritelli M; Venturini M; Castori M; Colombi M
    PLoS One; 2016; 11(8):e0161347. PubMed ID: 27518164
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Arterial complications in classical Ehlers-Danlos syndrome: a case series.
    Angwin C; Brady AF; Pope FM; Vandersteen A; Baker D; Cheema H; Sobey G; Johnson D; von Klemperer K; Kazkaz H; van Dijk F; Ghali N
    J Med Genet; 2020 Nov; 57(11):769-776. PubMed ID: 32467296
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL; Jansen A; Chen MH; Parrini E; Morgan T; Ravenscroft R; Ganesh V; Underwood T; Wiley J; Leventer R; Vaid RR; Ruiz DE; Hutchins GM; Menasha J; Willner J; Geng Y; Gripp KW; Nicholson L; Berry-Kravis E; Bodell A; Apse K; Hill RS; Dubeau F; Andermann F; Barkovich J; Andermann E; Shugart YY; Thomas P; Viri M; Veggiotti P; Robertson S; Guerrini R; Walsh CA
    Neurology; 2005 Jan; 64(2):254-62. PubMed ID: 15668422
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.