311 related articles for article (PubMed ID: 33768677)
1. 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]
2. 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]
3. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S; Graves TJ; Shimonty A; Kerr K; Kilner J; Xiao S; Slade R; Sroya M; Alikian M; Curetean E; Thomas E; McConnell VPM; McKee S; Boardman-Pretty F; Devereau A; Fowler TA; Caulfield MJ; Alton EW; Ferguson T; Redhead J; McKnight AJ; Thomas GA; ; Aldred MA; Shovlin CL
Am J Med Genet A; 2022 Mar; 188(3):959-964. PubMed ID: 34904380
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.
Vandenbriele C; Peerlinck K; de Ravel T; Verhamme P; Vanassche T
Acta Clin Belg; 2014 Apr; 69(2):139-41. PubMed ID: 24724759
[TBL] [Abstract][Full Text] [Related]
7. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
Villa D; Cinnante C; Valcamonica G; Manenti G; Lanfranconi S; Colombi A; Ghione I; Saetti MC; D'Amico M; Bonato S; Bresolin N; Comi GP; Ronchi D
BMC Neurol; 2020 Aug; 20(1):316. PubMed ID: 32847536
[TBL] [Abstract][Full Text] [Related]
8. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue WL; Akay G; Whitehead K; Briggs E; Stevenson DA; O'Fallon B; Velinder M; Farrell A; Shen W; Bedoukian E; Skrabann CM; Antaya RJ; Henderson K; Pollak J; Treat J; Day R; Jacher JE; Hannibal M; Bontempo K; Marth G; Bayrak-Toydemir P; McDonald J
Genet Med; 2019 Sep; 21(9):2007-2014. PubMed ID: 30760892
[TBL] [Abstract][Full Text] [Related]
9. Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
Mu W; Cordner ZA; Yuqi Wang K; Reed K; Robinson G; Mitchell S; Lin D
Genet Med; 2018 Jun; 20(6):639-644. PubMed ID: 29048420
[TBL] [Abstract][Full Text] [Related]
10. The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
Mutize TT; Seedat RY; Ploos van Amstel JK; Mager JJ; Brown SC; Gebremariam F; Coetzee MJ
Mol Biol Rep; 2020 Dec; 47(12):9967-9972. PubMed ID: 33201366
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.
Nishida T; Faughnan ME; Krings T; Chakinala M; Gossage JR; Young WL; Kim H; Pourmohamad T; Henderson KJ; Schrum SD; James M; Quinnine N; Bharatha A; Terbrugge KG; White RI
Am J Med Genet A; 2012 Nov; 158A(11):2829-34. PubMed ID: 22991266
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
Heimdal K; Dalhus B; Rødningen OK; Kroken M; Eiklid K; Dheyauldeen S; Røysland T; Andersen R; Kulseth MA
Clin Genet; 2016 Feb; 89(2):182-6. PubMed ID: 25970827
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [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]
17. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R; Iriarte A; Mora-Luján JM; Patier JL; López-Wolf D; Ojeda A; Torralba MA; Juyol MC; Gil R; Añón S; Salazar-Mendiguchía J; Riera-Mestre A;
Orphanet J Rare Dis; 2020 Jun; 15(1):138. PubMed ID: 32503579
[TBL] [Abstract][Full Text] [Related]
18. The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
Pawlikowska L; Nelson J; Guo DE; McCulloch CE; Lawton MT; Young WL; Kim H; Faughnan ME;
Am J Med Genet A; 2015 Jun; 167(6):1262-7. PubMed ID: 25847705
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel de novo mutation of ENG gene in a fetus with pulmonary arteriovenous malformation.
Cheng C; Zhu X; Yang F; Zhao S; Chen X
Clin Genet; 2020 Dec; 98(6):626-627. PubMed ID: 32954511
[No Abstract] [Full Text] [Related]
20. Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.
Gamboa NT; Joyce EJ; Eli I; Park MS; Taussky P; Schmidt RH; McDonald J; Whitehead KJ; Kalani MYS
J Clin Neurosci; 2018 May; 51():22-28. PubMed ID: 29483005
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
