Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 102 Records) |
| Query Trace: Disease and TTR[original query] |
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| Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records. JACC. CardioOncology 2021 11 3 (4): 550-561. Carry Brendan J, Young Katelyn, Fielden Samuel, Kelly Melissa A, Sturm Amy C, Avila J David, Martin Christa L, Kirchner H Lester, Fornwalt Brandon K, Haggerty Christopher M, |
| Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country. Neuromuscular disorders : NMD 2021 11 31 (12): 1251-1258. Koutsis Georgios, Kastritis Efstathios, Kontogeorgiou Zoi, Kartanou Chrisoula, Kokotis Panagiotis, Rentzos Michail, Breza Marianthi, Kleopa Kleopas A, Christodoulou Kyproula, Oikonomou Evangelos, Anastasakis Aris, Angelidakis Panagiotis, Sarmas Ioannis, Kargiotis Odysseas, Tzagournissakis Minas, Zaganas Ioannis, Foukarakis Emmanouil, Sachpekidis Vasileios, Papathoma Alexandra, Panas Marios, Stefanis Leonidas, Dimopoulos Meletios Athanasios, Karadima Georg |
Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.
Nature communications 2022 8 13 (1): 4923. Tahir Usman A, Katz Daniel H, Avila-Pachecho Julian, Bick Alexander G, Pampana Akhil, Robbins Jeremy M, Yu Zhi, Chen Zsu-Zsu, Benson Mark D, Cruz Daniel E, Ngo Debby, Deng Shuliang, Shi Xu, Zheng Shuning, Eisman Aaron S, Farrell Laurie, Hall Michael E, Correa Adolfo, Tracy Russell P, Durda Peter, Taylor Kent D, Liu Yongmei, Johnson W Craig, Guo Xiuqing, Yao Jie, Chen Yii-Der Ida, Manichaikul Ani W, Ruberg Frederick L, Blaner William S, Jain Deepti, , Bouchard Claude, Sarzynski Mark A, Rich Stephen S, Rotter Jerome I, Wang Thomas J, Wilson James G, Clish Clary B, Natarajan Pradeep, Gerszten Robert |
| CTNNB1 mutations, TERT polymorphism and CD8+ cell densities in resected hepatocellular carcinoma are associated with longer time to recurrence. BMC cancer 2022 8 22 (1): 884. Ambrozkiewicz Filip, Trailin Andriy, ?ervenková Lenka, Vaclavikova Radka, Hanicinec Vojtech, Allah Mohammad Al Obeed, Palek Richard, T?eška Vladislav, Daum Ondrej, Tonar Zbyn?k, Liška Václav, Hemminki Ka |
| Urinary Transthyretin as a Biomarker in ATTRv Val50Met Amyloidosis. Pathophysiology : the official journal of the International Society for Pathophysiology 2022 7 29 (3): 333-343. Matsushita Hiroaki, Misumi Yohei, Masuda Teruaki, Okada Masamitsu, Inoue Fumika, Ueda Mitsuharu, Ando Yuk |
| Heart transplantation in Val142Ile mutation in the modern era: A single center experience. Clinical transplantation 2022 7 36 (11): e14780. Lyle Melissa A, Brown Matthew T, Morris Alanna A, Gupta Divya, Vega J David, Cole Robert T, Bhatt Kunal |
| Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet journal of rare diseases 2022 6 17 (1): 236. Dispenzieri Angela, Coelho Teresa, Conceição Isabel, Waddington-Cruz Márcia, Wixner Jonas, Kristen Arnt V, Rapezzi Claudio, Planté-Bordeneuve Violaine, Gonzalez-Moreno Juan, Maurer Mathew S, Grogan Martha, Chapman Doug, Amass Leslie, |
| Characteristics and natural history of early-stage cardiac transthyretin amyloidosis. European heart journal 2022 5 43 (27): 2622-2632. Law Steven, Bezard Melanie, Petrie Aviva, Chacko Liza, Cohen Oliver C, Ravichandran Sriram, Ogunbiyi Olabisi, Kharoubi Mounira, Ganeshananthan Sashiananthan, Ganeshananthan Sharmananthan, Gilbertson Janet A, Rowczenio Dorota, Wechalekar Ashutosh, Martinez-Naharro Ana, Lachmann Helen J, Whelan Carol J, Hutt David F, Hawkins Philip N, Damy Thibaud, Fontana Marianna, Gillmore Julian |
| Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs. Frontiers in neurology 2022 3 13 835812. Di Stefano Vincenzo, Thomas Ewan, Giustino Valerio, Iacono Salvatore, Torrente Angelo, Pillitteri Guglielmo, Gagliardo Andrea, Lupica Antonino, Palma Antonio, Battaglia Giuseppe, Brighina Filip |
| Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments. Journal of human genetics 2022 1 67 (6): 353-362. Taniguchi Takaki, Ando Masahiro, Okamoto Yuji, Yoshimura Akiko, Higuchi Yujiro, Hashiguchi Akihiro, Matsuda Nozomu, Yamamoto Mamoru, Dohi Eisuke, Takahashi Makoto, Yoshino Masanao, Nomura Taichi, Matsushima Masaaki, Yabe Ichiro, Sanpei Yui, Ishiura Hiroyuki, Mitsui Jun, Nakagawa Masanori, Tsuji Shoji, Takashima Hiros |
| Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2022 Sep 1-6. Romano Angela, Guglielmino Valeria, Di Paolantonio Andrea, Bisogni Giulia, Sabatelli Mario, Della Marca Giacomo, Minnella Angelo Maria, Maceroni Martina, Bellavia Simone, Scala Irene, Sabatelli Eleonora, Rollo Eleonora, Luigetti Mar |
| Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca. Orphanet journal of rare diseases 2023 8 18 (1): 255. E Cisneros-Barroso, F Gorram, M A Ribot-Sansó, F Alarcon, G Nuel, J González-Moreno, A Rodríguez, J Hernandez-Rodriguez, E Amengual-Cladera, I Martínez-López, T Ripoll-Vera, I Losada-López, D Heine-Suñer, V Plante-Bordeneu |
| Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis. Medicina clinica 2023 8 . María Gallego Delgado, Jara Gayán Ordás, Rocío Eiros, Belén García Berrocal, Pedro Luis Sánchez, Eduardo Villacor |
| The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
| Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 6 . Janna K Warendorf, Gerjan M van der Star, Dennis Dooijes, Nicolette C Notermans, Alexander F J E Vranck |
| Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation. Frontiers in neurology 2023 2 14 1109782. Tozza Stefano, Luigetti Marco, Antonini Giovanni, Mazzeo Anna, Severi Daniele, Di Paolantonio Andrea, Leonardi Luca, Russo Massimo, Romano Angela, Forcina Francesca, Gentile Luca, Nolano Maria, Mattia Consalvo, Manganelli Fio |
| Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography. Diagnostics (Basel, Switzerland) 2023 12 13 (24): . Daniela Di Lisi, Filippo Brighina, Girolamo Manno, Francesco Comparato, Vincenzo Di Stefano, Francesca Macaione, Giuseppe Damerino, Leandro Di Caccamo, Noemi Cannizzo, Antonella Ortello, Alfredo R Galassi, Giuseppina No |
| Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers. Journal of neurology, neurosurgery, and psychiatry 2023 10 . Diane Beauvais, Céline Labeyrie, Cécile Cauquil, Bruno Francou, Ludivine Eliahou, Adeline Not, Andoni Echaniz-Laguna, Clovis Adam, Michel S Slama, Anouar Benmalek, Luca Leonardi, François Rouzet, David Adams, Vincent Algalarrondo, Guillemette Beaudonn |
| Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 10 . Stefano Tozza, Giovanni Palumbo, Daniele Severi, Aniello Iovino, Emanuele Spina, Francesco Aruta, Emanuele Cassano, Rosa Iodice, Raffaele Dubbioso, Lucia Ruggiero, Maria Nolano, Lucio Santoro, Fiore Manganel |
| Prevalence, characteristics and outcomes of older patients with hereditary versus wild-type transthyretin amyloid cardiomyopathy. European journal of heart failure 2023 1 . Porcari Aldostefano, Razvi Yousuf, Masi Ambra, Patel Rishi, Ioannou Adam, Rauf Muhammad U, Hutt David F, Rowczenio Dorota, Gilbertson Janet, Martinez-Naharro Ana, Venneri Lucia, Whelan Carol, Lachmann Helen, Wechalekar Ashutosh, Quarta Candida Cristina, Merlo Marco, Sinagra Gianfranco, Hawkins Philip N, Fontana Marianna, Gillmore Julian |
| Peptide Receptor Radionuclide Therapy versus Capecitabine/Temozolomide for the Treatment of Metastatic Pancreatic Neuroendocrine Tumors. Cancers 2024 9 16 (17): . Rushabh Gujarathi, Joseph Tobias, Sara Abou Azar, Xavier M Keutgen, Chih-Yi Li |
| The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy. International journal of cardiology 2024 9 417 132542. Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot, Karim Wahbi, Xavier Jeunemaître, Thibaud Damy, Clarisse Billon, |
| Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study. Scientific reports 2024 8 14 (1): 18281. Marco Luigetti, Francesca Vitali, Angela Romano, Maria Ausilia Sciarrone, Valeria Guglielmino, Michelangelo Ardito, Andrea Sabino, Serenella Servidei, Geny Piro, Carmine Carbone, Francesca Graziani, Rosa Lillo, Pietro Manuel Ferraro, Guido Primia |
| Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genetics in medicine : official journal of the American College of Medical Genetics 2024 8 101225. Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Xiang Wang, Xiaonan Zhao, Nichole Marie Owen, Alanna Strong, Margaret H Harr, , Elizabeth Bhoj, Elaine Zackai, Hassan Vahidnezhad, Johann Gudjonsson, Stephen D Cederbaum, Joshua L Deignan, Joseph Glessner, Wayne W Grody, Hakon Hakonars |
| Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population. JAMA cardiology 2024 8 . Nay Aung, Hannah L Nicholls, C Anwar A Chahal, Mohammed Y Khanji, Elisa Rauseo, Sucharitha Chadalavada, Steffen E Petersen, Patricia B Munroe, Perry M Elliott, Luis R Lop |
| Family history of cancer and lung cancer: Utility of big data and artificial intelligence for exploring the role of genetic risk. Lung cancer (Amsterdam, Netherlands) 2024 8 195 107920. Virginia Calvo, Emetis Niazmand, Enric Carcereny, Delvys Rodriguez-Abreu, Manuel Cobo, Rafael López-Castro, María Guirado, Carlos Camps, Ana Laura Ortega, Reyes Bernabé, Bartomeu Massutí, Rosario Garcia-Campelo, Edel Del Barco, José Luis González-Larriba, Joaquim Bosch-Barrera, Marta Martínez, María Torrente, María-Esther Vidal, Mariano Provenc |
| Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement. Arquivos brasileiros de cardiologia 2024 5 121 (4): e20230216. Tonnison de Oliveira Silva, Eduardo Sahade Darzé, Marcela Machado Costa, Luiz José Junior, Antonio A B Ximenes, Fábio Fernandes, Mário de Seixas Rocha, Marcia M Noya-Rabelo, Luiz Eduardo Fonteles Ri |
| The Role of CSF Transthyretin in Human Alzheimer's Disease: Offense, Defense, or not so Innocent Bystander. Journal of integrative neuroscience 2024 1 22 (6): 158. Joel N Buxba |
| Performance of Tc-PYP scintigraphy in the diagnosis of hereditary transthyretin cardiac amyloidosis. Annals of nuclear medicine 2024 1 . Honghui Guo, Sha Wu, Xin Xiang, Shuai Wang, Zhihui Fang, Qianchun Ye, Yao Zou, Yunhua Wang, Daoquan Peng, Xiaowei |
| Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral center. European journal of preventive cardiology 2024 1 . Angelo Giuseppe Caponetti, Maurizio Sguazzotti, Antonella Accietto, Giulia Saturi, Alberto Ponziani, Alessandro Giovannetti, Paolo Massa, Irene Ruotolo, Giuseppe Sena, Andrea Zaccaro, Vanda Parisi, Rachele Bonfiglioli, Pietro Guaraldi, Christian Gagliardi, Pietro Cortelli, Nazzareno Galie, Elena Biagini, Simone Long |
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