BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 10471441)

  • 1. Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections.
    Grond-Ginsbach C; Weber R; Haas J; Orberk E; Kunz S; Busse O; Hausser I; Brandt T; Wildemann B
    Stroke; 1999 Sep; 30(9):1887-90. PubMed ID: 10471441
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections.
    von Pein F; Välkkilä M; Schwarz R; Morcher M; Klima B; Grau A; Ala-Kokko L; Hausser I; Brandt T; Grond-Ginsbach C
    J Neurol; 2002 Jul; 249(7):862-6. PubMed ID: 12140670
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Familial cervical artery dissections: clinical, morphologic, and genetic studies.
    Martin JJ; Hausser I; Lyrer P; Busse O; Schwarz R; Schneider R; Brandt T; Kloss M; Schwaninger M; Engelter S; Grond-Ginsbach C
    Stroke; 2006 Dec; 37(12):2924-9. PubMed ID: 17053184
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.
    Kuivaniemi H; Prockop DJ; Wu Y; Madhatheri SL; Kleinert C; Earley JJ; Jokinen A; Stolle C; Majamaa K; Myllylä VV
    Neurology; 1993 Dec; 43(12):2652-8. PubMed ID: 8255472
    [TBL] [Abstract][Full Text] [Related]  

  • 5. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
    Wenstrup RJ; Florer JB; Willing MC; Giunta C; Steinmann B; Young F; Susic M; Cole WG
    Am J Hum Genet; 2000 Jun; 66(6):1766-76. PubMed ID: 10777716
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel Recurrent
    Richer J; Hill HL; Wang Y; Yang ML; Hunker KL; Lane J; Blackburn S; Coleman DM; Eliason J; Sillon G; D'Agostino MD; Jetty P; Mongeon FP; Laberge AM; Ryan SE; Fendrikova-Mahlay N; Coutinho T; Mathis MR; Zawistowski M; Hazen SL; Katz AE; Gornik HL; Brummett CM; Abecasis G; Bergin IL; Stanley JC; Li JZ; Ganesh SK
    Arterioscler Thromb Vasc Biol; 2020 Nov; 40(11):2686-2699. PubMed ID: 32938213
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
    Morcher M; Hausser I; Brandt T; Grond-Ginsbach C
    J Neurol; 2003 Aug; 250(8):983-6. PubMed ID: 12928920
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Association of cervical artery dissection with connective tissue abnormalities in skin and arteries.
    Brandt T; Morcher M; Hausser I
    Front Neurol Neurosci; 2005; 20():16-29. PubMed ID: 17290108
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections.
    Grond-Ginsbach C; Wigger F; Morcher M; von Pein F; Grau A; Hausser I; Brandt T
    Neurology; 2002 Apr; 58(7):1103-5. PubMed ID: 11940702
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
    Toriello HV; Glover TW; Takahara K; Byers PH; Miller DE; Higgins JV; Greenspan DS
    Nat Genet; 1996 Jul; 13(3):361-5. PubMed ID: 8673139
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The role of type III collagen in spontaneous cervical arterial dissections.
    van den Berg JS; Limburg M; Kappelle LJ; Pals G; Arwert F; Westerveld A
    Ann Neurol; 1998 Apr; 43(4):494-8. PubMed ID: 9546331
    [TBL] [Abstract][Full Text] [Related]  

  • 14. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
    Symoens S; Malfait F; Renard M; André J; Hausser I; Loeys B; Coucke P; De Paepe A
    Hum Mutat; 2009 Feb; 30(2):E395-403. PubMed ID: 18972565
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
    Errichiello E; Malara A; Grimod G; Avolio L; Balduini A; Zuffardi O
    Eur J Med Genet; 2021 Jan; 64(1):104099. PubMed ID: 33189937
    [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. 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]  

  • 19. 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]  

  • 20. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
    Bouma P; Cabral WA; Cole WG; Marini JC
    J Biol Chem; 2001 Apr; 276(16):13356-64. PubMed ID: 11278977
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.