BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 28102596)

  • 1. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
    Colombi M; Dordoni C; Venturini M; Zanca A; Calzavara-Pinton P; Ritelli M
    Am J Med Genet A; 2017 Feb; 173(2):524-530. PubMed ID: 28102596
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
    Ritelli M; Dordoni C; Venturini M; Chiarelli N; Quinzani S; Traversa M; Zoppi N; Vascellaro A; Wischmeijer A; Manfredini E; Garavelli L; Calzavara-Pinton P; Colombi M
    Orphanet J Rare Dis; 2013 Apr; 8():58. PubMed ID: 23587214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
    Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
    Monroe GR; Harakalova M; van der Crabben SN; Majoor-Krakauer D; Bertoli-Avella AM; Moll FL; Oranen BI; Dooijes D; Vink A; Knoers NV; Maugeri A; Pals G; Nijman IJ; van Haaften G; Baas AF
    Am J Med Genet A; 2015 Jun; 167(6):1196-203. PubMed ID: 25845371
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
    Giunta C; Steinmann B
    Am J Med Genet; 2000 Jan; 90(1):72-9. PubMed ID: 10602121
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetics in classic Ehlers-Danlos syndrome.
    Malfait F; De Paepe A
    Am J Med Genet C Semin Med Genet; 2005 Nov; 139C(1):17-23. PubMed ID: 16278879
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
    Malfait F; Symoens S; Goemans N; Gyftodimou Y; Holmberg E; López-González V; Mortier G; Nampoothiri S; Petersen MB; De Paepe A
    Orphanet J Rare Dis; 2013 May; 8():78. PubMed ID: 23692737
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
    Giunta C; Nuytinck L; Raghunath M; Hausser I; De Paepe A; Steinmann B
    Am J Med Genet; 2002 May; 109(4):284-90. PubMed ID: 11992482
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
    Park AC; Phillips CL; Pfeiffer FM; Roenneburg DA; Kernien JF; Adams SM; Davidson JM; Birk DE; Greenspan DS
    Am J Pathol; 2015 Jul; 185(7):2000-11. PubMed ID: 25987251
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
    Symoens S; Malfait F; Vlummens P; Hermanns-Lê T; Syx D; De Paepe A
    PLoS One; 2011; 6(5):e20121. PubMed ID: 21611149
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
    De Paepe A; Nuytinck L; Hausser I; Anton-Lamprecht I; Naeyaert JM
    Am J Hum Genet; 1997 Mar; 60(3):547-54. PubMed ID: 9042913
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
    Wenstrup RJ; Langland GT; Willing MC; D'Souza VN; Cole WG
    Hum Mol Genet; 1996 Nov; 5(11):1733-6. PubMed ID: 8923000
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.
    Nielsen RH; Couppé C; Jensen JK; Olsen MR; Heinemeier KM; Malfait F; Symoens S; De Paepe A; Schjerling P; Magnusson SP; Remvig L; Kjaer M
    FASEB J; 2014 Nov; 28(11):4668-76. PubMed ID: 25122555
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
    Colombi M; Dordoni C; Cinquina V; Venturini M; Ritelli M
    Eur J Med Genet; 2018 Jan; 61(1):17-20. PubMed ID: 29024828
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 10.