These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 35723357)

  • 1. Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.
    Junkiert-Czarnecka A; Pilarska-Deltow M; Bąk A; Heise M; Latos-Bieleńska A; Zaremba J; Bartoszewska-Kubiak A; Haus O
    Curr Issues Mol Biol; 2022 Mar; 44(4):1472-1478. PubMed ID: 35723357
    [TBL] [Abstract][Full Text] [Related]  

  • 2. New variants in
    Junkiert-Czarnecka A; Pilarska-Deltow M; Bąk A; Heise M; Haus O
    Postepy Dermatol Alergol; 2019 Feb; 36(1):29-33. PubMed ID: 30858776
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Gonosomal Mosaicism for a Novel
    Micale L; Foiadelli T; Russo F; Cinque L; Bassanese F; Granatiero M; Fusco C; Savasta S; Castori M
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946877
    [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. 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]  

  • 8. Multi-exon
    Strang-Karlsson S; Keigwin S; Anttonen AK; Baker D; Bean K; Jakkula E
    Clin Case Rep; 2022 Oct; 10(10):e6455. PubMed ID: 36245460
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.
    Junkiert-Czarnecka A; Pilarska-Deltow M; Bąk A; Heise M; Haus O
    Postepy Dermatol Alergol; 2023 Feb; 40(1):102-106. PubMed ID: 36909907
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
    Chiarelli N; Carini G; Zoppi N; Ritelli M; Colombi M
    PLoS One; 2019; 14(2):e0211647. PubMed ID: 30716086
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
    Colman M; Syx D; De Wandele I; Dhooge T; Symoens S; Malfait F
    Hum Mutat; 2021 Oct; 42(10):1294-1306. PubMed ID: 34265140
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome.
    Caley L; Campar A; Mendonça T; Farinha F
    Eur J Case Rep Intern Med; 2023; 10(2):003698. PubMed ID: 36970158
    [TBL] [Abstract][Full Text] [Related]  

  • 16. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
    Morlino S; Micale L; Ritelli M; Rohrbach M; Zoppi N; Vandersteen A; Mackay S; Agolini E; Cocciadiferro D; Sasaki E; Madeo A; Ferraris A; Reardon W; Di Rocco M; Novelli A; Grammatico P; Malfait F; Mazza T; Hakim A; Giunta C; Colombi M; Castori M
    Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
    Weerakkody RA; Vandrovcova J; Kanonidou C; Mueller M; Gampawar P; Ibrahim Y; Norsworthy P; Biggs J; Abdullah A; Ross D; Black HA; Ferguson D; Cheshire NJ; Kazkaz H; Grahame R; Ghali N; Vandersteen A; Pope FM; Aitman TJ
    Genet Med; 2016 Nov; 18(11):1119-1127. PubMed ID: 27011056
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
    Ma N; Zhu Z; Liu J; Peng Y; Zhao X; Tang W; Jia Z; Xi H; Gao B; Wang H; Du J
    Mol Genet Genomic Med; 2021 May; 9(5):e1632. PubMed ID: 33834621
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 8.