Publications:

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases

Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G

Publication Date: 2020-09-22

Variant appearance in text: rs10819309

PubMed Link: 32962750

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1533.pdf

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Endoglin pathway genetic variation in preeclampsia: A validation study in Norwegian and Latina cohorts.

Pregnancy Hypertension

Schmella, Mandy J MJ; Roberts, James M JM; Conley, Yvette P YP; Ren, Dianxu D; Storvold, Gro L GL; Ingles, Sue A SA; Wilson, Melissa L ML; Staff, Anne Catherine AC; Hubel, Carl A CA

Publication Date: 2018-04

Variant appearance in text: rs10819309

PubMed Link: 29580923

Variant Present in the following documents:

• Main text
• main.pdf

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs10819309

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Variation in endoglin pathway genes is associated with preeclampsia: a case-control candidate gene association study.

Bmc Pregnancy And Childbirth

Bell, Mandy J MJ; Roberts, James M JM; Founds, Sandra A SA; Jeyabalan, Arun A; Terhorst, Lauren L; Conley, Yvette P YP

Publication Date: 2013-04-01

Variant appearance in text: rs10819309

PubMed Link: 23548068

Variant Present in the following documents:

• Main text
• 1471-2393-13-82.pdf

View BVdb publication page