382 related articles for article (PubMed ID: 31323331)
1. 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]
2. 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]
3. 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]
4. Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
Adham S; Dupuis-Girod S; Charpentier E; Mazzella JM; Jeunemaitre X; Legrand A
Clin Genet; 2020 Feb; 97(2):357-361. PubMed ID: 31531849
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S; Ghali N; Angwin C; Baker D; Baffini S; Brady AF; Giovannucci Uzielli ML; Giunta C; Johnson DS; Kosho T; Neas K; Pope FM; Rutsch F; Scarselli G; Sobey G; Vandersteen A; van Dijk FS
Am J Med Genet A; 2020 May; 182(5):994-1007. PubMed ID: 32091183
[TBL] [Abstract][Full Text] [Related]
9. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in
Lin Z; Zeng J; Wang X
Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239369
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R; Yamaguchi T; Hayashi S; Sano S; Kawame H; Kanki S; Taketani T; Yoshimura H; Nakamura Y; Kosho T
Am J Med Genet A; 2022 Sep; 188(9):2560-2575. PubMed ID: 35822426
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
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]
