Publications:

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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: rs11169953

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: rs11169953

PubMed Link: 29580923

Variant Present in the following documents:

• Main text
• main.pdf

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Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.

Translational Stroke Research

Boshuisen, Kim K; Brundel, Manon M; de Kovel, Carolien G F CGF; Letteboer, Tom G TG; Rinkel, Gabriel J E GJE; Westermann, Cornelis J J CJJ; Kim, Helen H; Pawlikowska, Ludmila L; Koeleman, Bobby P C BPC; Klijn, Catharina J M CJM

Publication Date: 2013-06

Variant appearance in text: rs11169953

PubMed Link: 24323303

Variant Present in the following documents:

• Main text

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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: rs11169953

PubMed Link: 23548068

Variant Present in the following documents:

• Main text
• 1471-2393-13-82.pdf

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Genetic variation in bone morphogenetic proteins and breast cancer risk in hispanic and non-hispanic white women: The breast cancer health disparities study.

International Journal Of Cancer

Slattery, Martha L ML; John, Esther M EM; Torres-Mejia, Gabriela G; Herrick, Jennifer S JS; Giuliano, Anna R AR; Baumgartner, Kathy B KB; Hines, Lisa M LM; Wolff, Roger K RK

Publication Date: 2013-06-15

Variant appearance in text: rs11169953

PubMed Link: 23180569

Variant Present in the following documents:

• Main text

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Transforming growth factor-beta signaling pathway in patients with Kawasaki disease.

Circulation. Cardiovascular Genetics

Shimizu, Chisato C; Jain, Sonia S; Davila, Sonia S; Hibberd, Martin L ML; Lin, Kevin O KO; Molkara, Delaram D; Frazer, Jeffrey R JR; Sun, Shelly S; Baker, Annette L AL; Newburger, Jane W JW; Rowley, Anne H AH; Shulman, Stanford T ST; Davila, Sonia S; Burgner, David D; Breunis, Willemijn B WB; Kuijpers, Taco W TW; Wright, Victoria J VJ; Levin, Michael M; Eleftherohorinou, Hariklia H; Coin, Lachlan L; Popper, Stephen J SJ; Relman, David A DA; Fury, Wen W; Lin, Calvin C; Mellis, Scott S; Tremoulet, Adriana H AH; Burns, Jane C JC

Publication Date: 2011-02

Variant appearance in text: rs11169953

PubMed Link: 21127203

Variant Present in the following documents:

• Main text

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