127 related articles for article (PubMed ID: 37670645)
1. [Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].
Ma JL; Zhou Z; Li Y; Zhang C; Duan FH; Wang GM
Zhonghua Jie He He Hu Xi Za Zhi; 2023 Sep; 46(9):916-920. PubMed ID: 37670645
[No 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. A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
Li P; Gao C; Wei Y; Zhao X; Sun D; Lin L; Yang Y; Shao Q; Lv H
Eur Arch Otorhinolaryngol; 2024 Jan; 281(1):237-243. PubMed ID: 37603052
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [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]
6. [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]
7. The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family.
Liu K; Fu J; Guo K; Maghsoudloo M; Cheng J; Fu J
Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540362
[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. Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
Soysal N; Eyries M; Verlhac S; Escabasse V; Remus N; Tamalet A; Rioux JY; Franchi-Abella S; Vasile M; Robert S; Delestrain C; Hau I; Ducou-Le Pointe H; Soubrier F; Carette MF; Epaud R
Pediatr Pulmonol; 2017 May; 52(5):642-649. PubMed ID: 28165669
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. 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]
13. [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]
14. 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]
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. 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]
17. 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]
18. [Hereditary pulmonary hypertension family with
Lin YK; Yang DH; Lei C; Luo H
Zhonghua Jie He He Hu Xi Za Zhi; 2023 Jun; 46(6):558-564. PubMed ID: 37278169
[No Abstract] [Full Text] [Related]
19. 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]
20. Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.
Sadick H; Hage J; Goessler U; Stern-Straeter J; Riedel F; Hoermann K; Bugert P
BMC Med Genet; 2009 Jun; 10():53. PubMed ID: 19508727
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
