Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 92 Records) |
Query Trace: Amyloidosis and TTR[original query] |
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining. Human genomics 2021 8 15 (1): 52. Abouelhoda Mohamed, Mohty Dania, Alayary Islam, Meyer Brian F, Arold Stefan T, Fadel Bahaa M, Monies Doro |
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry. Scientific reports 2021 Jun 11 (1): 11645. Parker Margaret M, Damrauer Scott M, Tcheandjieu Catherine, Erbe David, Aldinc Emre, Hawkins Philip N, Gillmore Julian D, Hull Leland E, Lynch Julie A, Joseph Jacob, Ticau Simina, Flynn-Carroll Alexander O, Deaton Aimee M, Ward Lucas D, Assimes Themistocles L, Tsao Philip S, Chang Kyong-Mi, Rader Daniel J, Fitzgerald Kevin, Vaishnaw Akshay K, Hinkle Gregory, Nioi Pa |
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 |
Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population. Journal of cardiac failure 2021 10 28 (3): 403-414. Kozlitina Julia, Garg Sonia, Drazner Mark H, Matulevicius Susan A, Ayers Colby, Overton John, Reid Jeffrey, Baras Aris, Rao Krishnasree, Pandey Ambarish, Berry Jarett, de Lemos James A, Grodin Justin |
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 |
A pilot study of nailfold capillaroscopy in hereditary transthyretin amyloidosis. Scientific reports 2022 7 12 (1): 11715. Kim Dayoung, Oh Jeeyoung, Min Hong Ki, Kim Hae-Rim, Choi Kyom |
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 |
Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals. JAMA 2022 4 327 (14): 1368-1378. Parcha Vibhu, Malla Gargya, Irvin Marguerite R, Armstrong Nicole D, Judd Suzanne E, Lange Leslie A, Maurer Mathew S, Levitan Emily B, Goyal Parag, Arora Garima, Arora Pank |
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study. Genetics in medicine : official journal of the American College of Medical Genetics 2022 4 24 (7): 1495-1502. Trachtenberg Barry H, Jimenez Javier, Morris Alanna A, Kransdorf Evan, Owens Anjali, Fishbein Daniel P, Jordan Elizabeth, Kinnamon Daniel D, Mead Jonathan O, Huggins Gordon S, Hershberger Ray E, |
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 |
Transthyretin V142I Genetic Variant and Cardiac Remodeling, Injury, and Heart Failure Risk in Black Adults. JACC. Heart failure 2022 2 10 (2): 129-138. Coniglio Amanda C, Segar Matthew W, Loungani Rahul S, Savla Jainy J, Grodin Justin L, Fox Ervin R, Garg Sonia, de Lemos James A, Berry Jarett D, Drazner Mark H, Shah Sanjiv, Hall Michael E, Shah Amil, Khan Sadiya S, Mentz Robert J, Pandey Ambari |
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 |
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review. Acta cardiologica 2023 9 1-8. Tian-Ping Yu, Jing Hou, Ting-Jie Yang, Xue-Qin Chen, Yu-Cheng Ch |
Electrocardiographic heterogeneity of patients with variant transthyretin amyloid cardiomyopathy: Genotype-phenotype correlations. International journal of cardiology 2023 9 131354. Domitilla Russo, Francesco Cappelli, Gianluca Di Bella, Giacomo Tini, Aldostefano Porcari, Alberto Cipriani, Marco Canepa, Marco Merlo, Roberto Licordari, Pier Filippo Vianello, Mattia Zampieri, Laura De Michieli, Riccardo Scirpa, Federico Perfetto, Gianfranco Sinagra, Camillo Autore, Claudio Rapezzi, Maria Beatrice Musume |
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 |
First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an "African variant" in Caucasians. Scandinavian cardiovascular journal : SCJ 2023 4 57 (1): 2197183. da Costa Catarina Martins, Amador Ana Filipa, Calvão João, Vasconcelos Porto Alice, Fernandes Susana, Martins Elisabete, Macedo Fili |
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 |
An ultra performance liquid chromatography method for transthyretin variants screening and heart failure assisting diagnosis. Clinica chimica acta; international journal of clinical chemistry 2023 12 553 117709. Shuang Wang, Liping Guan, Yang Sun, Li Cui, Shigang Guo, Mengdie Wang, Yu Liu, Xueting Cui, Furong Zhao, Yanjie Zhang, Yunfeng C |
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 |
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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