HuGE Literature Finder
Records 1-21
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Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2020 25 575-586. Crawford Dana C, Lin John, Cooke Bailey Jessica N, Kinzy Tyler, Sedor John R, O'Toole John F, Bush William |
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APOE polymorphism in ATTR amyloidosis patients treated with lipid nanoparticle siRNA.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019 Oct 1-7. Niemietz Christoph, Nadzemova Oksana, Zibert Andree, Schmidt Hartmut H |
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The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa.
Molecular genetics & genomic medicine 2016 Sep 4 (5): 548-56. Jacobson Daniel R, Alexander Alice A, Tagoe Clement, Garvey W T, Williams Scott M, Tishkoff Sara, Modiano David, Sirima Sodiomon B, Kalidi Issa, Toure Amadou, Buxbaum Joel |
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Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14?333 African-Americans.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2015 Sep 22 (3): 171-4. Jacobson Daniel R, Alexander Alice A, Tagoe Clement, Buxbaum Joel |
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Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
Annals of human genetics 2015 Mar 79 (2): 99-107. Jang Mi-Ae, Lee Ga Yeon, Kim Kihyun, Kim Seok-Jin, Kim Jung-Sun, Lee Soo-Youn, Kim Hee-Jin, Jeon Eun-Se |
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Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).
Human genetics 2015 Jan 134 (1): 111-21. Sikora Jacquelyn L, Logue Mark W, Chan Gloria G, Spencer Brian H, Prokaeva Tatiana B, Baldwin Clinton T, Seldin David C, Connors Lawreen |
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The amyloidogenic V122I transthyretin variant in elderly black Americans.
The New England journal of medicine 2015 Jan 372 (1): 21-9. Quarta C Cristina, Buxbaum Joel N, Shah Amil M, Falk Rodney H, Claggett Brian, Kitzman Dalane W, Mosley Thomas H, Butler Kenneth R, Boerwinkle Eric, Solomon Scott |
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Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2015 22 (2): 73-8. Iorio Andrea, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Pradotto Luca, Mauro Alessandro, Manfellotto Dario, Fuciarelli Maria, Polimanti Rena |
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The "Wagshurst study": p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2014 Dec 21 (4): 267-75. Bauer Ralf, Dikow Nicola, Brauer Andreas, Kreuter Michael, Buss Sebastian, Evers Christina, Röcken Christoph, Schnabel Philipp A, Hinderhofer Katrin, Ehlermann Philipp, Katus Hugo A, Kristen Arnt |
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Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2013 Dec 20 (4): 256-62. Polimanti Renato, Di Girolamo Marco, Manfellotto Dario, Fuciarelli Mar |
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Genotype, echocardiography, and survival in familial transthyretin amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2013 Dec 20 (4): 263-8. Arruda-Olson Adelaide M, Zeldenrust Steven R, Dispenzieri Angela, Gertz Morie A, Miller Fletcher A, Bielinski Suzette J, Klarich Kyle W, Scott Christopher G, Grogan Mart |
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Genetic stabilization of transthyretin, cerebrovascular disease, and life expectancy.
Arteriosclerosis, thrombosis, and vascular biology 2013 Jun 33 (6): 1441-7. Hornstrup Louise S, Frikke-Schmidt Ruth, Nordestgaard Børge G, Tybjærg-Hansen An |
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THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis.
Current medical research and opinion 2013 Jan 29 (1): 63-76. Coelho Teresa, Maurer Mathew S, Suhr Ole |
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Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.
Molecular vision 2013 19 1631-8. Zhang A-Mei, Wang Hui, Sun Peng, Hu Qiu-Xiang, He Yuqing, Yao Yong-Ga |
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Regional difference and similarity of familial amyloidosis with polyneuropathy in France.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2012 Jun 19 Suppl 1 61-4. Adams David, Lozeron Pierre, Theaudin Marie, Mincheva Zoia, Cauquil Cecile, Adam Clovis, Signate Aissatou, Vial Christophe, Maisonobe Thierry, Delmont Emilien, Franques Jerome, Vallat Jean-Michel, Sole Guilhem, Pereon Yann, Lacour Arnaud, Echaniz-Laguna Andoni, Misrahi Micheline, Lacroix Catherine, |
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Relation of clinical, echocardiographic and electrocardiographic features of cardiac amyloidosis to the presence of the transthyretin V122I allele in older African-American men.
The American journal of cardiology 2011 Aug 108 (3): 440-4. Jacobson Daniel, Tagoe Clement, Schwartzbard Arthur, Shah Alan, Koziol James, Buxbaum Jo |
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Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.
American heart journal 2010 May 159 (5): 864-70. Buxbaum Joel, Alexander Alice, Koziol James, Tagoe Clement, Fox Ervin, Kitzman Dala |
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A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.
BMC medical genetics 2010 11 130. Olsson Malin, Norgren Nina, Obayashi Konen, Plante-Bordeneuve Violaine, Suhr Ole B, Cederquist Kristina, Jonasson Jen |
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Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients.
Clinical genetics 2009 Feb 75 (2): 163-8. Olsson M, Hellman U, Planté-Bordeneuve V, Jonasson J, Lång K, Suhr O |
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Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study.
Annals of medicine 2008 40 (3): 232-9. Tanskanen Maarit, Peuralinna Terhi, Polvikoski Tuomo, Notkola Irma-Leena, Sulkava Raimo, Hardy John, Singleton Andrew, Kiuru-Enari Sari, Paetau Anders, Tienari Pentti J, Myllykangas Lii |
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A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2005 Jun 12 (2): 127-30. Yamashita Taro, Hamidi Asl Kamran, Yazaki Masahide, Benson Merrill |
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- Page last updated:Jan 19, 2021
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