PMC Links for Nucleotide (Select 222831623) - PMC

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Items: 4

Select item 54717891.

Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension

Luigi F. Bertoli, Pauline L. Lee, Lauren Lallone, James C. Barton

Case Rep Gastroenterol. 2017 May-Aug; 11(2): 293–304. Published online 2017 May 17. doi: 10.1159/000475748

PMCID:: PMC5471789

Abstract Article PDF–937K

Select item 53243152.

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez, Luisa M. Botella

BMC Med Genet. 2017; 18: 20. Published online 2017 Feb 23. doi: 10.1186/s12881-017-0380-0

PMCID:: PMC5324315

Abstract Article PDF–812K

Select item 36389813.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Laura Boeri, Orietta Radi, Cecilia Canzonieri, Elisabetta Buscarini, Agnese Scatigno, Antonella Minelli, Federica Ornati, Fabio Pagella, Cesare Danesino, Carla Olivieri

Mol Syndromol. 2013 Mar; 4(3): 119–124. Published online 2013 Feb 28. doi: 10.1159/000347029

PMCID:: PMC3638981

Abstract Article PDF–160K

Select item 36103314.

Brain Arteriovenous Malformations associated with Hereditary Hemorrhagic Telangiectasia: Gene-Phenotype Correlations

Takeo Nishida, Marie E. Faughnan, Timo Krings, Murali Chakinala, James R. Gossage, William L. Young, Helen Kim, Tony Pourmohamad, Katharine J. Henderson, Stacy D. Schrum, Melissa James, Nancy Quinnine, Aditya Bharatha, Karel G. terBrugge, Robert I. White, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Am J Med Genet A. 2012 Nov; 0(11): 2829–2834. Published online 2012 Sep 18. doi: 10.1002/ajmg.a.35622