Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Muscular Dystrophies and DMD[original query] |
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| Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies. Disease markers 2000 16 (3-4): 125-9. Effat L K, El-Harouni A A, Amr K S, El-Minisi T I, Abdel Meguid N, El-Awady |
| A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. American journal of medical genetics. Part A 2004 May 127 (1): 54-7. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N |
| Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005 Nov 112 (18): 2799-804. Jefferies John L, Eidem Benjamin W, Belmont John W, Craigen William J, Ware Stephanie M, Fernbach Susan D, Neish Steven R, Smith E O'brian, Towbin Jeffrey |
| Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. European journal of human genetics : EJHG 2014 Jan 22 (1): 110-8. Wei Xiaoming, Dai Yi, Yu Ping, Qu Ning, Lan Zhangzhang, Hong Xiafei, Sun Yan, Yang Guanghui, Xie Shuqi, Shi Quan, Zhou Hanlin, Zhu Qian, Chu Yuxing, Yao Fengxia, Wang Jinming, He Jingni, Yang Yun, Liang Yu, Yang Yi, Qi Ming, Yang Ling, Wang Wei, Wu Haitao, Duan Jing, Shen Cheng, Wang Jun, Cui Liying, Yi X |
| Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies. Balkan journal of medical genetics : BJMG 2013 Jun 16 (1): 1. Chamova T, Guergueltcheva V, Raycheva M, Todorov T, Genova J, Bichev S, Bojinova V, Mitev V, Tournev I, Todorova A |
| Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. Journal of human genetics 2014 Jan 59 (1): 46-50. Lee Tomoko, Takeshima Yasuhiro, Kusunoki Noriko, Awano Hiroyuki, Yagi Mariko, Matsuo Masafumi, Iijima Kazumo |
| Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Jun . Zamani Gholam Reza, Karami Fatemeh, Mehdizadeh Mahshid, Movafagh Abolfazl, Nilipour Yalda, Zamani Mah |
| DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics 2015 Aug 60 (8): 435-42. Guo Ruolan, Zhu Guosheng, Zhu Huimin, Ma Ruiyu, Peng Ying, Liang Desheng, Wu Lingqi |
| Genetic profile of Brazilian patients with dystrophinopathies. Clinical genetics 2017 1 92 (2): 199-203. de Almeida P A D, Machado-Costa M C, Manzoli G N, Ferreira L S, Rodrigues M C S, Bueno L S M, Saute J A M, Pinto Vairo F, Matte U S, Siebert M, Cossio S L, Macedo G S, Winckler P B, Becker M M, Magalhães L V B, Gonçalves M V M, Marrone C D, Nucci A, França M |
| Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma. Nature communications 2018 12 9 (1): 5410. Gallia Gary L, Zhang Ming, Ning Yi, Haffner Michael C, Batista Denise, Binder Zev A, Bishop Justin A, Hann Christine L, Hruban Ralph H, Ishii Masaru, Klein Alison P, Reh Douglas D, Rooper Lisa M, Salmasi Vafi, Tamargo Rafael J, Wang Qing, Williamson Tara, Zhao Tianna, Zou Ying, Meeker Alan K, Agrawal Nishant, Vogelstein Bert, Kinzler Kenneth W, Papadopoulos Nickolas, Bettegowda Chet |
| Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort. Neuromuscular disorders : NMD 2018 10 28 (12): 986-995. Luce Leonela N, Carcione Micaela, Mazzanti Chiara, Ferrer Marcela, Szijan Irene, Giliberto Florenc |
| Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian pediatrics 2019 7 56 (7): 556-559. Tallapaka Karthik, Ranganath Prajnya, Ramachandran Angalena, Uppin Megha S, Perala Sreeja, Aggarwal Shagun, Lakshmi Dhanya, Meena A K, Dalal Ashwin |
| [Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification]. Revista peruana de medicina experimental y salud publica 2019 12 36 (3): 475-480. Huamán-Dianderas Francia Dp, Guevara-Fujita María Luisa, Málaga Diana Rojas, Estrada-Cuzcano Alejandro, Fujita Ricar |
| Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. Human mutation 2019 11 41 (3): 668-677. Ling Chao, Dai Yi, Fang Li, Yao Fengxia, Liu Zhe, Qiu Zhengqing, Cui Liying, Xia Fan, Zhao Chen, Zhang Shuyang, Wang Kai, Zhang X |
| 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 |
| Theragnosis for Duchenne Muscular Dystrophy. Frontiers in pharmacology 2021 6 12 648390. Luce Leonela, Carcione Micaela, Mazzanti Chiara, Buonfiglio Paula I, Dalamón Viviana, Mesa Lilia, Dubrovsky Alberto, Corderí José, Giliberto Florenc |
| Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing. Molecular genetics & genomic medicine 2021 5 9 (5): e1633. Shastry Arun, Aravind Sankaramoorthy, Sunil Meeta, Ramesh Keerthi, Ashley Berty, T Nithyanandan, Ramprasad Vedam L, Gupta Ravi, Seshagiri Somasekar, Nongthomba Upendra, Phalke Same |
| 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 |
| Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing. Frontiers in genetics 2021 12 12 770350. Patel Komal M, Bhatt Arpan D, Shah Krati, Waghela Bhargav N, Pandit Ramesh J, Sheth Harsh, Joshi Chaitanya G, Joshi Madhvi |
| Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy. The application of clinical genetics 2021 10 14 399-408. Triana-Fonseca Paula, Parada-Márquez Juan Fernando, Silva-Aldana Claudia T, Zambrano-Arenas Daniela, Arias-Gomez Laura Lucia, Morales-Fonseca Natalia, Medina-Méndez Esteban, Restrepo Carlos M, Silgado-Guzmán Daniel Felipe, Fonseca-Mendoza Dora Jane |
| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Annals of clinical and translational neurology 2022 6 9 (8): 1302-1309. Bruels Christine C, Littel Hannah R, Daugherty Audrey L, Stafki Seth, Estrella Elicia A, McGaughy Emily S, Truong Don, Badalamenti Jonathan P, Pais Lynn, Ganesh Vijay S, O'Donnell-Luria Anne, Stalker Heather J, Wang Yang, Collins Christin, Behlmann Andrea, Lemmers Richard J L F, van der Maarel Silvère M, Laine Regina, Ghosh Partha S, Darras Basil T, Zingariello Carla D, Pacak Christina A, Kunkel Louis M, Kang Peter |
| Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta-analysis. Journal of neurology 2022 3 269 (7): 3461-3469. Pascual-Morena Carlos, Martínez-Vizcaíno Vicente, Saz-Lara Alicia, López-Gil José Francisco, Fernández-Bravo-Rodrigo Jaime, Cavero-Redondo Iv |
| Intelligence quotient-genotype association in dystrophinopathies: a systematic review and meta-analysis. Neuropathology and applied neurobiology 2023 6 e12914. Carlos Pascual-Morena, Iván Cavero-Redondo, Irene Sequí-Domínguez, Eva Rodríguez-Gutiérrez, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaí |
| Social cognition in DMD and BMD dystrophinopathies: a cross-sectional preliminary study. The Clinical neuropsychologist 2023 4 1-16. Irune García, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Patricia Espinosa-Blanco, Alicia Aurora Rodríguez, Mercè Pallarès-Sastre, Aitana Ruiz de Lazcano, Imanol Amay |
| Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies. iScience 2023 12 26 (12): 108365. Chao Ling, Yi Dai, Chang Geng, Shirang Pan, Weipeng Quan, Qingyun Ding, Xunzhe Yang, Dongchao Shen, Qing Tao, Jingjing Li, Jia Li, Yinbing Wang, Shan Jiang, Yang Wang, Lin Chen, Liying Cui, Depeng Wa |
| 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 |
- Page last reviewed:Feb 1, 2024
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