150 related articles for article (PubMed ID: 33776002)
21. Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.
Huljev Frković S; Slišković AM; Toivonen M; Crkvenac Gregore A; Šutalo A; Vrkić Kirhmajer M
Croat Med J; 2022 Aug; 63(4):394-398. PubMed ID: 36046937
[TBL] [Abstract][Full Text] [Related]
22. Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy.
Ishikawa S; Kosho T; Kaminaga T; Miyamoto M; Hamasaki Y; Yoshihara S; Hayashi S; Igawa K
J Dermatol; 2021 Apr; 48(4):481-485. PubMed ID: 33523542
[TBL] [Abstract][Full Text] [Related]
23. Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H; Takeda N; Amiya E; Akiyama N; Chang H; Ishiura H; Sato J; Akazawa H; Morita H; Komuro I
Am J Med Genet A; 2022 Sep; 188(9):2777-2782. PubMed ID: 35543214
[TBL] [Abstract][Full Text] [Related]
24. The dysmorphic phenotype in vascular Ehlers Danlos syndrome.
Lyness JR; Morrison PJ
Clin Dysmorphol; 2023 Jan; 32(1):1-6. PubMed ID: 36503916
[TBL] [Abstract][Full Text] [Related]
25. Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome.
Nanduri R; Jones E; Miller-Hance W; Lewis AM; Morris SA
Am J Med Genet A; 2021 Mar; 185(3):841-844. PubMed ID: 33586854
[TBL] [Abstract][Full Text] [Related]
26. Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.
Sa YJ; Kim YD; Moon SW; Kim CK; Ki CS
Surg Today; 2013 Dec; 43(12):1467-9. PubMed ID: 23052746
[TBL] [Abstract][Full Text] [Related]
27. Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1.
Berezowska S; Christe A; Bartholdi D; Koch M; von Garnier C
Am J Respir Crit Care Med; 2018 Mar; 197(5):661-662. PubMed ID: 29323927
[No Abstract] [Full Text] [Related]
28. A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Ruscitti F; Trevisan L; Rosti G; Gotta F; Cianflone A; Geroldi A; Origone P; Pichiecchio A; Viglio S; Iascone M; Mandich P
Mol Genet Genomic Med; 2021 Sep; 9(9):e1753. PubMed ID: 34318601
[TBL] [Abstract][Full Text] [Related]
29. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.
Watanabe A; Kawabata Y; Okada O; Tanabe N; Kimura H; Hatamochi A; Shinkai H; Sakai N; Shimada T; Hiroshima K; Kuriyama T
Eur Respir J; 2002 Jan; 19(1):195-8. PubMed ID: 11843319
[TBL] [Abstract][Full Text] [Related]
30. Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.
Ong KT; Plauchu H; Peyrol S; Roux E; Errazuriz E; Khau Van Kien P; Arbeille B; Gaulier A; Georgescou G; Collignon P; Germain DP; Gaveau MN; Perdu J; Laurent S; Bruneval P; Boutouyrie P
Virchows Arch; 2012 Jun; 460(6):637-49. PubMed ID: 22549280
[TBL] [Abstract][Full Text] [Related]
31. Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage.
Pimenta I; Varudo R; Castelao F; Gonzalez FA
BMJ Case Rep; 2021 Jul; 14(7):. PubMed ID: 34226255
[TBL] [Abstract][Full Text] [Related]
32. Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome.
Batagini NC; Gornik H; Kirksey L
Vasc Endovascular Surg; 2015; 49(5-6):152-4. PubMed ID: 26323967
[TBL] [Abstract][Full Text] [Related]
33. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
Chiarelli N; Carini G; Zoppi N; Ritelli M; Colombi M
PLoS One; 2018; 13(1):e0191220. PubMed ID: 29346445
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.
Redman MG; Wagner BE; Cadden S; Baker D; Bowen JM; Johnson D; Sobey G; Balasubramanian M
Ultrastruct Pathol; 2021 Nov; 45(6):414-420. PubMed ID: 34538206
[TBL] [Abstract][Full Text] [Related]
36. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A; Janahi IA; Eltohami A; Zeid A; Faiyaz Ul Haque M; Teebi AS
Acta Paediatr; 2003 Apr; 92(4):456-62. PubMed ID: 12801113
[TBL] [Abstract][Full Text] [Related]
37. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
Shimaoka Y; Kosho T; Wataya-Kaneda M; Funakoshi M; Suzuki T; Hayashi S; Mitsuhashi Y; Isei T; Aoki Y; Yamazaki K; Ono M; Makino K; Tanaka T; Kunii E; Hatamochi A
Br J Dermatol; 2010 Oct; 163(4):704-10. PubMed ID: 20518783
[TBL] [Abstract][Full Text] [Related]
38. Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.
Liang M; Chen C; Dai Y; Chang Y; Gao Y
J Cell Mol Med; 2022 Jan; 26(1):144-150. PubMed ID: 34845833
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case.
Omori H; Hatamochi A; Koike M; Sato Y; Kosho T; Kitakado Y; Oe T; Mukai T; Hari Y; Takahashi Y; Takubo K
Surg Today; 2011 May; 41(5):733-6. PubMed ID: 21533953
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
