144 related articles for article (PubMed ID: 37689549)
1. New genetic drivers in hemorrhagic hereditary telangiectasia.
Cerdà P; Castillo SD; Aguilera C; Iriarte A; Rocamora JL; Larrinaga AM; Viñals F; Graupera M; Riera-Mestre A
Eur J Intern Med; 2024 Jan; 119():99-108. PubMed ID: 37689549
[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. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. [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]
13. 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]
14. Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
Zhao Y; Zhang Y; Wang X; Zhang L
Mol Genet Genomic Med; 2019 Sep; 7(9):e893. PubMed ID: 31400083
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
Aguilera C; Padró-Miquel A; Esteve-Garcia A; Cerdà P; Torres-Iglesias R; Llecha N; Riera-Mestre A
Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36981042
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Tusseau M; Eyries M; Chatron N; Coulet F; Guichet A; Colin E; Demeer B; Maillard H; Thevenon J; Lavigne C; Saillour V; Paris C; De Sainte Agathe JM; Pujalte M; Guilhem A; Dupuis-Girod S; Lesca G
Eur J Med Genet; 2024 Apr; 68():104919. PubMed ID: 38355093
[TBL] [Abstract][Full Text] [Related]
20. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Giraud S; Bardel C; Dupuis-Girod S; Carette MF; Gilbert-Dussardier B; Riviere S; Saurin JC; Eyries M; Patri S; Decullier E; Calender A; Lesca G
Orphanet J Rare Dis; 2020 Sep; 15(1):254. PubMed ID: 32962750
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
