147 related articles for article (PubMed ID: 28823282)
1. [Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide].
Yu Q; Cheng Z; Yi YF; Peng HL
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2017 Aug; 25(4):1136-1141. PubMed ID: 28823282
[TBL] [Abstract][Full Text] [Related]
2. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
Albiñana V; Zafra MP; Colau J; Zarrabeitia R; Recio-Poveda L; Olavarrieta L; Pérez-Pérez J; Botella LM
BMC Med Genet; 2017 Feb; 18(1):20. PubMed ID: 28231770
[TBL] [Abstract][Full Text] [Related]
3. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
Lee ST; Kim JA; Jang SY; Kim DK; Do YS; Suh GY; Kim JW; Ki CS
J Korean Med Sci; 2009 Feb; 24(1):69-76. PubMed ID: 19270816
[TBL] [Abstract][Full Text] [Related]
4. [Gene identification in a family of hereditary hemorrhagic telangiectasia].
Wang LL; Zhang ZH; Gu CH; Lin L; Wang TR; Hao CL
Zhonghua Xue Ye Xue Za Zhi; 2018 Jun; 39(6):476-479. PubMed ID: 30032563
[No Abstract] [Full Text] [Related]
5. Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients.
Baysal M; Demir S; Ümit EG; Gürkan H; Baş V; Karaman Gülsaran S; Demirci U; Kırkızlar HO; Demir AM
Balkan Med J; 2019 Dec; 37(1):43-46. PubMed ID: 31594285
[TBL] [Abstract][Full Text] [Related]
6. [Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].
Liu C; Lv YX; Yang XD; Huang YH; Luo Y; Yi Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):176-9. PubMed ID: 23568730
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
Karlsson T; Cherif H
Ups J Med Sci; 2018 Sep; 123(3):153-157. PubMed ID: 30251589
[TBL] [Abstract][Full Text] [Related]
8. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K; Ishiguro T; Komiyama M; Morisaki T; Morisaki H; Minase G; Hamanaka K; Miyatake S; Matsumoto N; Kato M; Takahashi T; Yorifuji T
BMC Med Genomics; 2021 Dec; 14(1):288. PubMed ID: 34872578
[TBL] [Abstract][Full Text] [Related]
9. [Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].
Du X; Wang Y; Ye Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):197-201. PubMed ID: 29652991
[TBL] [Abstract][Full Text] [Related]
10. [Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].
Yi Y; Liu X; Wu B; Liu J; Ge S; Shi X
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2017 Sep; 42(9):1017-1022. PubMed ID: 28989145
[TBL] [Abstract][Full Text] [Related]
11. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
Tørring PM; Kjeldsen AD; Ousager LB; Brusgaard K
Mol Genet Genomic Med; 2018 Jan; 6(1):121-125. PubMed ID: 29243366
[TBL] [Abstract][Full Text] [Related]
12. [Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom].
Leng H; Zhang Q; Shi L
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Jul; 33(7):591-592. PubMed ID: 31327192
[No Abstract] [Full Text] [Related]
13. A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.
Lu Y; Zhu Y; Shi L; Zhen H; Sun Z; Cheng L
Mol Med Rep; 2015 Jul; 12(1):510-2. PubMed ID: 25760803
[TBL] [Abstract][Full Text] [Related]
14. [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].
Major T; Gindele R; Szabó Z; Jóni N; Kis Z; Bora L; Bárdossy P; Rácz T; Karosi T; Bereczky Z
Orv Hetil; 2019 May; 160(18):710-719. PubMed ID: 31030535
[TBL] [Abstract][Full Text] [Related]
15. [Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].
Song XY; Yang YJ; Yao Y; Zhang Y; Song XC
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2021 Dec; 56(12):1307-1312. PubMed ID: 34963219
[No Abstract] [Full Text] [Related]
16. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL; Savas S; Abdalla SA; Piovesan B; Rushlow D; Vandezande K; Zhang E; Ozcelik H; Gallie BL; Letarte M
J Med Genet; 2006 Sep; 43(9):722-8. PubMed ID: 16690726
[TBL] [Abstract][Full Text] [Related]
17. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G; Burnichon N; Raux G; Tosi M; Pinson S; Marion MJ; Babin E; Gilbert-Dussardier B; Rivière S; Goizet C; Faivre L; Plauchu H; Frébourg T; Calender A; Giraud S;
Hum Mutat; 2006 Jun; 27(6):598. PubMed ID: 16705692
[TBL] [Abstract][Full Text] [Related]
18. NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.
Xu Y; Zhang YB; Liang LJ; Tian JL; Lin JM; Wang PP; Li RH; Gu ML; Gao ZC
BMC Pulm Med; 2021 Jun; 21(1):197. PubMed ID: 34112136
[TBL] [Abstract][Full Text] [Related]
19. An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.
Yu Q; Shen XH; Li Y; Li RJ; Li J; Luo YY; Liu SF; Deng MY; Pei MF; Zhang GS
PLoS One; 2013; 8(2):e58031. PubMed ID: 23460919
[TBL] [Abstract][Full Text] [Related]
20. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD; Richards J; George C; Godmilow L; Ganguly A
Hum Mutat; 2006 Jul; 27(7):667-75. PubMed ID: 16752392
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]