Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 58 Records) |
| Query Trace: Disease and DMD[original query] |
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| Longitudinal natural history in young boys with Duchenne muscular dystrophy. Neuromuscular disorders : NMD 2019 10 29 (11): 857-862. Coratti Giorgia, Brogna Claudia, Norcia Giulia, Ricotti Valeria, Abbott Lianne, D'Amico Adele, Berardinelli Angela, Vita Gian Luca, Lucibello Simona, Messina Sonia, Sansone Valeria, Albamonte Emilio, Colia Giulia, Salmin Francesca, Gardani Alice, Manzur Adnan, Main Marion, Baranello Giovanni, Arnoldi Maria Teresa, Parsons Julie, Carry Terri, Connolly Anne M, Bertini Enrico, Muntoni Francesco, Pane Marika, Mercuri Eugen |
| Influence of ? adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy. Respiratory research 2019 10 20 (1): 221. Kelley Eli F, Cross Troy J, Snyder Eric M, McDonald Craig M, , Hoffman Eric P, Bello Lu |
| The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy. Journal of cardiac failure 2020 Aug . Nagai Masashi, Awano Hiroyuki, Yamamoto Tetsushi, Bo Ryosuke, Matsuo Masafumi, Iijima Kazumo |
| Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort. Molecular genetics & genomic medicine 2020 4 8 (7): e1218. Li Jian-Kang, Li Li-Li, Li Wei, Wang Zi-Wei, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Qu Shou-Fang, Huang Jie, Wang Lu-Sheng, Wu Ji-Hong, Chen Fa |
| Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation. Journal of clinical medicine 2020 Jan 9 (2): . Vad Oliver Bundgaard, Paludan-Müller Christian, Ahlberg Gustav, Kalstø Silje Madeleine, Ghouse Jonas, Andreasen Laura, Haunsø Stig, Tveit Arnljot, Sajadieh Ahmad, Christophersen Ingrid Elisabeth, Svendsen Jesper Hastrup, Olesen Morten Salli |
| Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Neurology. Genetics 2020 12 7 (1): e536. Selvatici Rita, Rossi Rachele, Fortunato Fernanda, Trabanelli Cecilia, Sifi Yamina, Margutti Alice, Neri Marcella, Gualandi Francesca, Szabò Lena, Fekete Balint, Angelova Lyudmilla, Litvinenko Ivan, Ivanov Ivan, Vildan Yurtsever, Iuhas Oana Alexandra, Vintan Mihaela, Burloiu Carmen, Lacramioara Butnariu, Visa Gabriela, Epure Diana, Rusu Cristina, Vasile Daniela, Sandu Magdalena, Vlodavets Dmitry, Mager Monica, Kyriakides Theodore, Delin Sanja, Lehman Ivan, Fureš Jadranka Sekelj, Bojinova Veneta, Militaru Mariela, Guergueltcheva Velina, Burnyte Birute, Molnar Maria Judith, Butoianu Niculina, Bensemmane Selma Dounia, Makri-Mokrane Samira, Herczegfalvi Agnes, Panzaru Monica, Emandi Adela Chirita, Lusakowska Anna, Potulska-Chromik Anna, Kostera-Pruszczyk Anna, Shatillo Andriy, Khelladi Djawed Bouchenak, Dendane Oussama, Fang Mingyan, Lu Zhiyuan, Ferlini Alessand |
| Cardiac Phenotype-Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review. Pediatric cardiology 2020 10 42 (1): 189-198. Zhou Huan, Fu Manli, Mao Bing, Yuan |
| TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European journal of human genetics : EJHG 2020 Jan . Spitali Pietro, Zaharieva Irina, Bohringer Stefan, Hiller Monika, Chaouch Amina, Roos Andreas, Scotton Chiara, Claustres Mireille, Bello Luca, McDonald Craig M, Hoffman Eric P, , Koeks Zaida, Eka Suchiman H, Cirak Sebahattin, Scoto Mariacristina, Reza Mojgan, 't Hoen Peter A C, Niks Erik H, Tuffery-Giraud Sylvie, Lochmüller Hanns, Ferlini Alessandra, Muntoni Francesco, Aartsma-Rus Annemie |
| Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial. Journal of neuromuscular diseases 2021 Jun . McDonald Craig M, Shieh Perry B, Abdel-Hamid Hoda Z, Connolly Anne M, Ciafaloni Emma, Wagner Kathryn R, Goemans Nathalie, Mercuri Eugenio, Khan Navid, Koenig Erica, Malhotra Jyoti, Zhang Wenfei, Han Baoguang, Mendell Jerry R, |
| Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology and applied neurobiology 2021 5 47 (7): 1092-1108. Jimenez-Marin Antonio, Diez Ibai, Labayru Garazi, Sistiaga Andone, Caballero Maria C, Andres-Benito Pol, Sepulcre Jorge, Ferrer Isidro, Lopez de Munain Adolfo, Cortes Jesus |
| Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy. Orphanet journal of rare diseases 2021 4 16 (1): 188. Zhang Shu, Qin Dongdong, Wu Liwen, Li Man, Song Lifang, Wei Cuijie, Lu Chunling, Zhang Xiaoli, Hong Siqi, Ma Mingming, Wu Shiwen, |
| Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort. Journal of neuromuscular diseases 2021 4 8 (4): 525-535. Nagabushana Divya, Polavarapu Kiran, Bardhan Mainak, Arunachal Gautham, Gunasekaran Swetha, Preethish-Kumar Veeramani, Anjanappa Ram Murthy, Thomas PriyaTreesa, Sadasivan Arun, Vengalil Seena, Nashi Saraswati, Chawla Tanushree, Warrier Manjusha, Keerthipriya Muddasu, Raju Sanita, Mohan Dhaarini, Nalini Atchayar |
| Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum. Journal of pediatric genetics 2021 2 10 (1): 23-28. Nerakh Gayatri, Ranganath Prajnya, Murugan Sakthiv |
| Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans. Journal of personalized medicine 2021 Jan 11 (1): . Han Nayoung, Oh Jung Mi, Kim In-W |
| Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants. PloS one 2022 17 (8): e0273280. Przyby?a Weronika, Gjersvoll Paulsen Kirsti Marie, Mishra Charitra Kumar, Nygård Ståle, Engebretsen Solveig, Ruud Ellen, Trøen Gunhild, Beiske Klaus, Baumbusch Lars Oliv |
| Genetic modifiers of upper limb function in Duchenne muscular dystrophy. Journal of neurology 2022 5 269 (9): 4884-4894. Sabbatini Daniele, Fusto Aurora, Vianello Sara, Villa Matteo, Janik Joanna, D'Angelo Grazia, Diella Eleonora, Magri Francesca, Comi Giacomo P, Panicucci Chiara, Bruno Claudio, D'Amico Adele, Bertini Enrico, Astrea Guja, Battini Roberta, Politano Luisa, Masson Riccardo, Baranello Giovanni, Previtali Stefano C, Messina Sonia, Vita Gianluca, Berardinelli Angela, Mongini Tiziana, Pini Antonella, Pane Marika, Mercuri Eugenio, Hoffman Eric P, Morgenroth Lauren, Gordish-Dressman Heather, Duong Tina, McDonald Craig M, Bello Luca, Pegoraro Ele |
| Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy. BMC neurology 2022 5 22 (1): 162. Zamani Gholamreza, Hosseinpour Sareh, Ashrafi Mahmoud Reza, Mohammadi Mahmoud, Badv Reza Shervin, Tavasoli Ali Reza, Akbari Masood Ghahvechi, Bereshneh Ali Hosseini, Malamiri Reza Azizi, Heidari Morte |
| Whole-genome sequencing reveals novel ethnicity-specific rare variants associated with Alzheimer's disease. Molecular psychiatry 2022 3 27 (5): 2554-2562. Shigemizu Daichi, Asanomi Yuya, Akiyama Shintaro, Mitsumori Risa, Niida Shumpei, Ozaki Kouic |
| Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing. Journal of molecular neuroscience : MN 2022 2 72 (5): 1098-1107. Zamani Gholam Reza, Mohammadi Mohammad Farid, Tavasoli Ali Reza, Ashrafi Mahmoud Reza, Hosseinpour Sareh, Ghabeli Homa, Pourbakhtyaran Elham, Haghighi Roya, Hosseiny Seyyed Mohammad Mahdi, Mohammadi Pouria, Heidari Morte |
| Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations. Frontiers in neuroscience 2022 11 16 992546. Gan Siyi, Liu Shulei, Yang Haiyan, Wu Liw |
| Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI. Neurology 2022 10 99 (21): e2406-e2416. Barnard Alison M, Hammers David W, Triplett William T, Kim Sarah, Forbes Sean C, Willcocks Rebecca J, Daniels Michael J, Senesac Claudia R, Lott Donovan J, Arpan Ishu, Rooney William D, Wang Richard T, Nelson Stanley F, Sweeney H Lee, Vandenborne Krista, Walter Glenn |
| Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. Pediatric cardiology 2022 1 43 (4): 855-867. Gambetta Katheryn E, McCulloch Michael A, Lal Ashwin K, Knecht Kenneth, Butts Ryan J, Villa Chet R, Johnson Jonathan N, Conway Jennifer, Bock Matthew J, Schumacher Kurt R, Law Sabrina P, Friedland-Little Joshua M, Deshpande Shriprasad R, West Shawn C, Lytrivi Irene D, Wittlieb-Weber Carol |
| The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients. Muscle & nerve 2024 9 . Alexander Zygmunt, Brenda Wong, David Moon, Paul Horn, Richard Rathbun, Joshua Lambert, Jean Bange, Irina Rybalsky, Lisa Reebals, Cuixia Ti |
| An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 2024 7 25 (14): . Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Tö |
| [Expert consensus on the genetic counseling for Dystrophinopathies]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 5 41 (6): 651-660. Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening, Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association, Medical Genetics Branch Of Chinese Medical Doctor Association, Genetic Diagnosis And Precision Medicine Branch Of The Chinese Association Of Birth Health And Science, Xiaoliang Liu, Yanyan Zhao, Hua Wang, Jesse Li-Ling, Lingqian Wu, Yanping Lu, Qingxian Cha |
| Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. Journal of neuromuscular diseases 2024 4 . E Landfeldt, A Alemán, S Abner, R Zhang, C Werner, I Tomazos, N Ferizovic, H Lochmüller, J Kirschn |
| Next-Generation Sequencing in Sporadic Medullary Thyroid Cancer Patients: Mutation Profile and Disease Aggressiveness. Journal of the Endocrine Society 2024 4 8 (6): bvae048. Aditya S Shirali, Mimi I Hu, Yi-Ju Chiang, Paul H Graham, Sarah B Fisher, Julie Ann Sosa, Nancy Perrier, Spandana Brown, Vijaykumar R Holla, Ramona Dadu, Naifa Busaidy, Steven I Sherman, Maria Cabanillas, Steven G Waguespack, Mark E Zafereo, Elizabeth G Grub |
| Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024 12 54 32-41. Leonela Luce, Chiara Mazzanti, Micaela Carcione, Carmen Llames Massini, Paula Inés Buonfiglio, Viviana Dalamón, Carla Bolaño Díaz, Lilia Mesa, Alberto Dubrovsky, Javier Cotignola, Florencia Giliber |
| Clinical and Molecular Profile of Duchenne Muscular Dystrophy (DMD): Case-Record Analysis From Uttar Pradesh, India. Indian pediatrics 2024 10 . Ankur Singh, Minketan Sidar, Akhtar Ali, Abhishek Abhinay, Rajniti Prasad, Om Prakash Mish |
| The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy. Neuropediatrics 2025 1 . Gizem Do?an, Gamze Sar?kaya Uzan, Yi?ithan Güzin, Figen Baydan, Kay? Eliac?k, Bar?s Güven, Ali Rahmi Bakil |
- Page last reviewed:Feb 1, 2024
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