Publications:

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Pulmonary Arteriovenous Malformation and Embolic Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia.

Jacc. Case Reports

Sánchez-Fernández, Gabriel G; García-López, Fernando F; Martínez-Bendayán, Isaac I; Bello-Peón, María José MJ; Marzoa-Rivas, Raquel R

Publication Date: 2020-02

Variant appearance in text: ENG: Leu306Pro

PubMed Link: 34317232

Variant Present in the following documents:

• Main text
• main.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ENG: 917T>C; Leu306Pro

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HHT1: L306P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ENG: L306P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Plos One

Alaa El Din, Ferdos F; Patri, Sylvie S; Thoreau, Vincent V; Rodriguez-Ballesteros, Montserrat M; Hamade, Eva E; Bailly, Sabine S; Gilbert-Dussardier, Brigitte B; Abou Merhi, Raghida R; Kitzis, Alain A

Publication Date: 2015

Variant appearance in text: ENG: L306P

PubMed Link: 26176610

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• Main text
• pone.0132111.pdf

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Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses.

Plos One

Förg, Tassilo T; Hafner, Mathias M; Lux, Andreas A

Publication Date: 2014

Variant appearance in text: HHT1: L306P

PubMed Link: 25080347

Variant Present in the following documents:

• Main text
• pone.0102998.pdf

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ENG: L306P

PubMed Link: 16690726

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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