תוצאות חיפוש - Michael Triebwasser
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Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMD מאת Erin K. Wagner, Soumya Raychaudhuri, Mercedes B. Villalonga, Anuja Java, Michael Triebwasser, Mark J. Daly, John P. Atkinson, Johanna M. Seddon
יצא לאור 2016Artigo -
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Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels מאת David Kavanagh, Yi-Chien Yu, Elizabeth C. Schramm, Michael Triebwasser, E K Wagner, Soumya Raychaudhuri, Mark J. Daly, John P. Atkinson, Johanna M. Seddon
יצא לאור 2015Artigo -
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Mutations in Complement Regulatory Proteins Predispose to Preeclampsia: A Genetic Analysis of the PROMISSE Cohort מאת Jane E. Salmon, Cara Heuser, Michael Triebwasser, M. Kathryn Liszewski, David Kavanagh, Lubka T. Roumenina, D. Ware Branch, Tim Goodship, Véronique Frémeaux‐Bacchi, John P. Atkinson
יצא לאור 2011Artigo -
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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration מאת Yi Yu, Michael Triebwasser, Edwin Wong, Elizabeth C. Schramm, Brett Thomas, Robyn Reynolds, Elaine R. Mardis, John P. Atkinson, Mark J. Daly, Soumya Raychaudhuri, David Kavanagh, Johanna M. Seddon
יצא לאור 2014Artigo -
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In vivo hematopoietic stem cell modification by mRNA delivery מאת Laura Breda, Tyler E. Papp, Michael Triebwasser, Amir Yadegari, Megan T. Fedorky, Naoto Tanaka, Osheiza Abdulmalik, Giulia Pavani, Yongping Wang, Stephan A. Grupp, Stella T. Chou, Houping Ni, Barbara L. Mui, Ying K. Tam, Drew Weissman, Stefano Rivella, Hamideh Parhiz
יצא לאור 2023Artigo -
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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration מאת Johanna M. Seddon, Yi Yu, Elizabeth C. Miller, Robyn Reynolds, Perciliz L. Tan, Sivakumar Gowrisankar, Jacqueline I. Goldstein, Michael Triebwasser, Holly E. Anderson, Jennyfer Zerbib, David Kavanagh, Eric H. Souied, Nicholas Katsanis, Mark J. Daly, John P. Atkinson, Soumya Raychaudhuri
יצא לאור 2013Artigo -
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Identification of germline monoallelic mutations in <i>IKZF2</i> in patients with immune dysregulation מאת Tala Shahin, Daniel Mayr, Mohamed R. Shoeb, Hye Sun Kuehn, Birgit Hoeger, Sarah Giuliani, Lisa Gawriyski, Özlem Yüce Petronczki, Jérôme Hadjadj, Sevgi Köstel Bal, Samaneh Zoghi, Matthias Haimel, Raúl Jiménez Heredia, David Boutboul, Michael Triebwasser, Fanny Rialland, Nathalie Costedoat Chalumeau, Pierre Quartier, Stuart G. Tangye, Thomas A. Fleisher, Nima Rezaei, Neil Romberg, Sylvain Latour, Markku Varjosalo, Florian Halbritter, Frédéric Rieux‐Laucat, Irinka Castanon, Sergio D. Rosenzweig, Kaan Boztuğ
יצא לאור 2021Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Medicine
Gene
Macular degeneration
Ophthalmology
Antibody
Complement system
Factor H
Mutation
Immunology
Internal medicine
Missense mutation
Complement factor I
Genotype
Phenotype
Allele
Allele frequency
Drusen
Exome
Exome sequencing
Minor allele frequency
Odds ratio
Pathogenesis
Alternative complement pathway
Antiphospholipid syndrome
Attributable risk
Atypical hemolytic uremic syndrome
Autoimmune disease
Bioinformatics