316 related articles for article (PubMed ID: 20720362)
1. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
Sadakata R; Hatamochi A; Kodama K; Kaga A; Yamaguchi T; Soma T; Usui Y; Nagata M; Ohtake A; Hagiwara K; Kanazawa M
Intern Med; 2010; 49(16):1797-800. PubMed ID: 20720362
[TBL] [Abstract][Full Text] [Related]
2. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A
Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
Rebelo M; Ramos L; Lima J; Vieira JD; Tavares P; Teixeira L; Matos A; Costa JN
Acta Med Port; 2011; 24(6):1079-86. PubMed ID: 22713205
[TBL] [Abstract][Full Text] [Related]
5. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH
Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371
[TBL] [Abstract][Full Text] [Related]
6. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
Wan T; Ye J; Wu P; Cheng M; Jiang B; Wang H; Li J; Ma J; Wang L; Huang X
BMC Pulm Med; 2020 May; 20(1):149. PubMed ID: 32471395
[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. 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]
9. Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax.
Nakagawa H; Wada H; Hajiro T; Nagao T; Ogawa E; Hatamochi A; Tanaka T; Nakano Y
Intern Med; 2015; 54(24):3181-4. PubMed ID: 26666608
[TBL] [Abstract][Full Text] [Related]
10. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
Cortini F; Marinelli B; Seia M; De Giorgio B; Pesatori AC; Montano N; Bassotti A
J Med Case Rep; 2016 Oct; 10(1):303. PubMed ID: 27799058
[TBL] [Abstract][Full Text] [Related]
11. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
Deng Y; Wei S; Hu S; Chen J; Tan Z; Yang Y
Mol Med Rep; 2015 Jul; 12(1):1119-24. PubMed ID: 25776230
[TBL] [Abstract][Full Text] [Related]
12. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.
Güven S; Kule O; Güleş D; Okumuş H; Oruç M; Celbiş O
J Forensic Leg Med; 2020 Jul; 73():101969. PubMed ID: 32442117
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
Okamoto O; Ando T; Watanabe A; Sato F; Mimata H; Shimada T; Fujiwara S
Arch Dermatol Res; 2008 Oct; 300(9):525-9. PubMed ID: 18779970
[TBL] [Abstract][Full Text] [Related]
16. [Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].
Chen B; Guan YQ; Wu XL; Qi YX; Yu HX; Li JX; Zhang J
Zhonghua Yi Xue Za Zhi; 2011 Apr; 91(16):1122-4. PubMed ID: 21609597
[TBL] [Abstract][Full Text] [Related]
17. Vascular type of Ehlers-Danlos syndrome.
Watanabe A; Shimada T
J Nippon Med Sch; 2008 Oct; 75(5):254-61. PubMed ID: 19023163
[TBL] [Abstract][Full Text] [Related]
18. Vascular Ehlers-Danlos syndrome.
Germain DP; Herrera-Guzman Y
Ann Genet; 2004; 47(1):1-9. PubMed ID: 15127738
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
Makrygiannis G; Loeys B; Defraigne JO; Sakalihasan N
Eur J Med Genet; 2015 Nov; 58(11):634-6. PubMed ID: 26497932
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
