197 related articles for article (PubMed ID: 29725758)
1. Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.
Kiss N; Haluszka D; Lőrincz K; Kuroli E; Hársing J; Mayer B; Kárpáti S; Fekete G; Szipőcs R; Wikonkál N; Medvecz M
Arch Dermatol Res; 2018 Jul; 310(5):463-473. PubMed ID: 29725758
[TBL] [Abstract][Full Text] [Related]
2. Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum.
Kiss N; Fésűs L; Bozsányi S; Szeri F; Van Gils M; Szabó V; Nagy AI; Hidvégi B; Szipőcs R; Martin L; Vanakker O; Arányi T; Merkely B; Wikonkál NM; Medvecz M
Lasers Med Sci; 2020 Oct; 35(8):1821-1830. PubMed ID: 32372237
[TBL] [Abstract][Full Text] [Related]
3. Identification of Two Independent
Bauer A; Bateman JF; Lamandé SR; Hanssen E; Kirejczyk SGM; Yee M; Ramiche A; Jagannathan V; Welle M; Leeb T; Bateman FL
Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31546637
[TBL] [Abstract][Full Text] [Related]
4. Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients.
Sulica VI; Cooper PH; Pope FM; Hambrick GW; Gerson BM; McKusick VA
Arch Dermatol; 1979 Jan; 115(1):40-2. PubMed ID: 760655
[TBL] [Abstract][Full Text] [Related]
5. Expanding the Clinical and Mutational Spectrum of Recessive
Ritelli M; Cinquina V; Venturini M; Pezzaioli L; Formenti AM; Chiarelli N; Colombi M
Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30759870
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
Eder J; Laccone F; Rohrbach M; Giunta C; Aumayr K; Reichel C; Trautinger F
Exp Dermatol; 2013 Mar; 22(3):231-4. PubMed ID: 23489429
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F; Villa C; Marinelli B; Combi R; Pesatori AC; Bassotti A
Arch Dermatol Res; 2019 May; 311(4):265-275. PubMed ID: 30826961
[TBL] [Abstract][Full Text] [Related]
10. Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome.
Eisenbeiss C; Martinez A; Hagedorn-Greiwe M; Reinhardt DP; Bätge B; Brinckmann J
Br J Dermatol; 2003 Oct; 149(4):850-2. PubMed ID: 14616379
[TBL] [Abstract][Full Text] [Related]
11. The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.
Burrows NP; Nicholls AC; Yates JR; Gatward G; Sarathachandra P; Richards A; Pope FM
J Invest Dermatol; 1996 Jun; 106(6):1273-6. PubMed ID: 8752669
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.
Spycher M; Bauer A; Jagannathan V; Frizzi M; De Lucia M; Leeb T
Anim Genet; 2018 Dec; 49(6):641-644. PubMed ID: 30246406
[TBL] [Abstract][Full Text] [Related]
14. Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
Loughlin J; Irven C; Hardwick LJ; Butcher S; Walsh S; Wordsworth P; Sykes B
Hum Mol Genet; 1995 Sep; 4(9):1649-51. PubMed ID: 8541855
[TBL] [Abstract][Full Text] [Related]
15. Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification.
Hausser I; Anton-Lamprecht I
Hum Genet; 1994 Apr; 93(4):394-407. PubMed ID: 8168810
[TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
Yang JH; Lee ST; Kim JA; Kim SH; Jang SY; Ki CS; Kim DK
J Korean Med Sci; 2007 Aug; 22(4):698-705. PubMed ID: 17728513
[TBL] [Abstract][Full Text] [Related]
17. Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.
Angwin C; Ghali N; Baker D; Brady AF; Pope FM; Vandersteen A; Wagner B; Ferguson DJP; van Dijk FS
Br J Dermatol; 2020 Mar; 182(3):698-707. PubMed ID: 31141158
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
Reinstein E; DeLozier CD; Simon Z; Bannykh S; Rimoin DL; Curry CJ
Eur J Hum Genet; 2013 Feb; 21(2):233-6. PubMed ID: 22739343
[TBL] [Abstract][Full Text] [Related]
20. Nonlinear spectral imaging of human hypertrophic scar based on two-photon excited fluorescence and second-harmonic generation.
Chen G; Chen J; Zhuo S; Xiong S; Zeng H; Jiang X; Chen R; Xie S
Br J Dermatol; 2009 Jul; 161(1):48-55. PubMed ID: 19309369
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]