BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 35964930)

  • 1. Phenotype of COL3A1/COL5A2 deletion patients.
    Kempers MJ; Wessels M; Van Berendoncks A; van de Laar IM; de Leeuw N; Loeys B
    Eur J Med Genet; 2022 Oct; 65(10):104593. PubMed ID: 35964930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
    Ghali N; Baker D; Brady AF; Burrows N; Cervi E; Cilliers D; Frank M; Germain DP; Hulmes DJS; Jacquemont ML; Kannu P; Lefroy H; Legrand A; Pope FM; Robertson L; Vandersteen A; von Klemperer K; Warburton R; Whiteford M; van Dijk FS
    Genet Med; 2019 Sep; 21(9):2081-2091. PubMed ID: 30837697
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Baas AF; Spiering W; Moll FL; Page-Christiaens L; Beenakkers IC; Dooijes D; Vonken EP; van der Smagt JJ; Knoers NV; Koenen SV; van Herwaarden JA; Sieswerda GT
    Am J Med Genet A; 2017 Feb; 173(2):519-523. PubMed ID: 28102592
    [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. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
    Meienberg J; Rohrbach M; Neuenschwander S; Spanaus K; Giunta C; Alonso S; Arnold E; Henggeler C; Regenass S; Patrignani A; Azzarello-Burri S; Steiner B; Nygren AO; Carrel T; Steinmann B; Mátyás G
    Eur J Hum Genet; 2010 Dec; 18(12):1315-21. PubMed ID: 20648054
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
    Lavanya K; Mahtani K; Abbott J; Jain A; Selvam P; Atwal H; Farres H; Atwal PS
    Am J Med Genet A; 2022 Jul; 188(7):2192-2197. PubMed ID: 35396906
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
    Ritelli M; Venturini M; Cinquina V; Chiarelli N; Colombi M
    Orphanet J Rare Dis; 2020 Jul; 15(1):197. PubMed ID: 32736638
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
    Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
    J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A
    Kiener S; Chevallier L; Jagannathan V; Briand A; Cochet-Faivre N; Reyes-Gomez E; Leeb T
    Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627319
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
    Demirdas S; van den Bersselaar LM; Lechner R; Bos J; Alsters SIM; Baars MJH; Baas AF; Baysal Ö; van der Crabben SN; Dulfer E; Giesbertz NAA; Helderman-van den Enden ATJM; Hilhorst-Hofstee Y; Kempers MJE; Komdeur FL; Loeys B; Majoor-Krakauer D; Ockeloen CW; Overwater E; van Tintelen PJ; Voorendt M; de Waard V; Maugeri A; Brüggenwirth HT; van de Laar IMBH; Houweling AC
    Circ Genom Precis Med; 2024 Jun; 17(3):e003978. PubMed ID: 38623759
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.
    Smith LB; Hadoke PW; Dyer E; Denvir MA; Brownstein D; Miller E; Nelson N; Wells S; Cheeseman M; Greenfield A
    Cardiovasc Res; 2011 Apr; 90(1):182-90. PubMed ID: 21071432
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
    Ritelli M; Cinquina V; Venturini M; Colombi M
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1422. PubMed ID: 32720758
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
    Horn D; Siebert E; Seidel U; Rost I; Mayer K; Abou Jamra R; Mitter D; Kornak U
    Am J Med Genet A; 2017 Sep; 173(9):2534-2538. PubMed ID: 28742248
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
    Gu G; Yang H; Cui L; Fu Y; Li F; Zhou Z; Zheng Y
    Vasc Endovascular Surg; 2018 Feb; 52(2):138-142. PubMed ID: 29216800
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

    [Next]    [New Search]
    of 9.