235 related articles for article (PubMed ID: 29243366)
1. 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]
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. 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]
4. Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.
Lee NP; Matevski D; Dumitru D; Piovesan B; Rushlow D; Gallie BL
J Med Genet; 2011 May; 48(5):353-7. PubMed ID: 21415079
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
Snellings DA; Gallione CJ; Clark DS; Vozoris NT; Faughnan ME; Marchuk DA
Am J Hum Genet; 2019 Nov; 105(5):894-906. PubMed ID: 31630786
[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. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.
Best DH; Vaughn C; McDonald J; Damjanovich K; Runo JR; Chibuk JM; Bayrak-Toydemir P
J Med Genet; 2011 May; 48(5):358-60. PubMed ID: 21378382
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).
McDonald J; Bayrak-Toydemir P; DeMille D; Wooderchak-Donahue W; Whitehead K
Genet Med; 2020 Jul; 22(7):1201-1205. PubMed ID: 32300199
[TBL] [Abstract][Full Text] [Related]
11. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
McDonald J; Damjanovich K; Millson A; Wooderchak W; Chibuk JM; Stevenson DA; Gedge F; Bayrak-Toydemir P
Clin Genet; 2011 Apr; 79(4):335-44. PubMed ID: 21158752
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.
Ruiz-Llorente L; McDonald J; Wooderchak-Donahue W; Briggs E; Chesnutt M; Bayrak-Toydemir P; Bernabeu C
J Hum Genet; 2019 Apr; 64(4):333-339. PubMed ID: 30728427
[TBL] [Abstract][Full Text] [Related]
14. Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
McDonald J; Wooderchak-Donahue WL; Henderson K; Paul E; Morris A; Bayrak-Toydemir P
Am J Med Genet A; 2018 Jul; 176(7):1618-1621. PubMed ID: 29736967
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Latif MA; Sobreira NLD; Guthrie KS; Motaghi M; Robinson GM; Shafaat O; Gong AJ; Weiss CR
Am J Med Genet A; 2021 Jul; 185(7):1981-1990. PubMed ID: 33768677
[TBL] [Abstract][Full Text] [Related]
17. Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Shovlin CL; Simeoni I; Downes K; Frazer ZC; Megy K; Bernabeu-Herrero ME; Shurr A; Brimley J; Patel D; Kell L; Stephens J; Turbin IG; Aldred MA; Penkett CJ; Ouwehand WH; Jovine L; Turro E
Blood; 2020 Oct; 136(17):1907-1918. PubMed ID: 32573726
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
