Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 189 Records) |
Query Trace: DMD[original query] |
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Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns. Neurology India 2022 9 70 (4): 1615-1617. Dama Tavisha, Chheda Pratiksha, Limaye Shweta, Pande Shailesh, Vinarkar Susha |
Influence of ? Adrenergic Receptor Genotype on Longitudinal Measures of Left Ventricular Ejection Fraction and Responsiveness to ß-Blocker Therapy in Patients With Duchenne Muscular Dystrophy. Clinical Medicine Insights. Cardiology 2022 9 16 11795468221116838. Kelley Eli F, Cross Troy J, McDonald Craig M, Investigators Cinrg, Hoffman Eric P, Spurney Christopher F, Bello Lu |
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 |
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients. Genes 2022 8 13 (8): . Kosac Ana, Pesovic Jovan, Radenkovic Lana, Brkusanin Milos, Radovanovic Nemanja, Djurisic Marina, Radivojevic Danijela, Mladenovic Jelena, Ostojic Slavica, Kovacevic Gordana, Kravljanac Ruzica, Savic Pavicevic Dusanka, Milic Rasic Vedra |
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. Annals of neurology 2022 7 92 (5): 793-806. Poyatos-García Javier, Martí Pilar, Liquori Alessandro, Muelas Nuria, Pitarch Inmaculada, Martinez-Dolz Luis, Rodríguez Benjamin, Gonzalez-Quereda Lidia, Damiá Maria, Aller Elena, Selva-Gimenez Marta, Vilchez Roger, Diaz-Manera Jordi, Alonso-Pérez Jorge, Barcena José Eulalio, Jauregui Amaia, Gámez Josep, Aladrén Jesus Angel, Fernández Ariadna, Montolio Marisol, Azorin Inmaculada, Hervas David, Casasús Ana, Nieto Marisa, Gallano Pia, Sevilla Teresa, Vilchez Juan Jes |
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 669-673. Gao Zhi, Liu Lina, Wang Yanli, Wang Yanfei, Huang Wei, Kong Xiangdo |
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 2022 6 13 (6): . Cerino Mathieu, González-Hormazábal Patricio, Abaji Mario, Courrier Sebastien, Puppo Francesca, Mathieu Yves, Trangulao Alejandra, Earle Nicholas, Castiglioni Claudia, Díaz Jorge, Campero Mario, Hughes Ricardo, Vargas Carmen, Cortés Rocío, Kleinsteuber Karin, Acosta Ignacio, Urtizberea J Andoni, Lévy Nicolas, Bartoli Marc, Krahn Martin, Jara Lilian, Caviedes Pablo, Gorokhova Svetlana, Bevilacqua Jorge |
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 |
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 |
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 |
Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International journal of molecular sciences 2022 11 23 (21): . Zinina Elena, Bulakh Maria, Chukhrova Alena, Ryzhkova Oksana, Sparber Peter, Shchagina Olga, Polyakov Aleksander, Kutsev Serg |
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 |
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE. medRxiv : the preprint server for health sciences 2023 9 . Xinruo Zhang, Jennifer A Brody, Mariaelisa Graff, Heather M Highland, Nathalie Chami, Hanfei Xu, Zhe Wang, Kendra Ferrier, Geetha Chittoor, Navya S Josyula, Xihao Li, Zilin Li, Matthew A Allison, Diane M Becker, Lawrence F Bielak, Joshua C Bis, Meher Preethi Boorgula, Donald W Bowden, Jai G Broome, Erin J Buth, Christopher S Carlson, Kyong-Mi Chang, Sameer Chavan, Yen-Feng Chiu, Lee-Ming Chuang, Matthew P Conomos, Dawn L DeMeo, Margaret Du, Ravindranath Duggirala, Celeste Eng, Alison E Fohner, Barry I Freedman, Melanie E Garrett, Xiuqing Guo, Chris Haiman, Benjamin D Heavner, Bertha Hidalgo, James E Hixson, Yuk-Lam Ho, Brian D Hobbs, Donglei Hu, Qin Hui, Chii-Min Hwu, Rebecca D Jackson, Deepti Jain, Rita R Kalyani, Sharon L R Kardia, Tanika N Kelly, Ethan M Lange, Michael LeNoir, Changwei Li, Loic Le Marchand, Merry-Lynn N McDonald, Caitlin P McHugh, Alanna C Morrison, Take Naseri, , Jeffrey O'Connell, Christopher J O'Donnell, Nicholette D Palmer, James S Pankow, James A Perry, Ulrike Peters, Michael H Preuss, D C Rao, Elizabeth A Regan, Sefuiva M Reupena, Dan M Roden, Jose Rodriguez-Santana, Colleen M Sitlani, Jennifer A Smith, Hemant K Tiwari, Ramachandran S Vasan, Zeyuan Wang, Daniel E Weeks, Jennifer Wessel, Kerri L Wiggins, Lynne R Wilkens, Peter W F Wilson, Lisa R Yanek, Zachary T Yoneda, Wei Zhao, Sebastian Zöllner, Donna K Arnett, Allison E Ashley-Koch, Kathleen C Barnes, John Blangero, Eric Boerwinkle, Esteban G Burchard, April P Carson, Daniel I Chasman, Yii-Der Ida Chen, Joanne E Curran, Myriam Fornage, Victor R Gordeuk, Jiang He, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Charles Kooperberg, Ryan L Minster, Braxton D Mitchell, Mehdi Nouraie, Bruce M Psaty, Laura M Raffield, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, M Benjamin Shoemaker, Nicholas L Smith, Kent D Taylor, Marilyn J Telen, Scott T Weiss, Yingze Zhang, Nancy Heard- Costa, Yan V Sun, Xihong Lin, L Adrienne Cupples, Leslie A Lange, Ching-Ti Liu, Ruth J F Loos, Kari E North, Anne E Justi |
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy. Neuromuscular disorders : NMD 2023 9 . Chang Liu, Jiajian Ma, Yanyu Lu, Yunlong Lu, Jiahui Mai, Li Bai, Yikang Wang, Yilei Zheng, Meng Yu, Yiming Zheng, Jianwen Deng, Lingchao Meng, Wei Zhang, Zhaoxia Wang, Yun Yuan, Zhiying X |
Identifying X-Chromosome Variants Associated with Age-Related Macular Degeneration. medRxiv : the preprint server for health sciences 2023 9 . Michelle Grunin, Robert P Igo, Yeunjoo E Song, Susan H Blanton, Margaret A Pericak-Vance, Jonathan L Haines, |
Late gadolinium enhancement distribution patterns in non-ischemic dilated cardiomyopathy: Genotype-phenotype correlation. European heart journal. Cardiovascular Imaging 2023 8 . Fernando de Frutos, Juan Pablo Ochoa, Ana Isabel Fernández, María Gallego-Delgado, Marina Navarro-Peñalver, Guillem Casas, María Teresa Basurte, José María Larrañaga-Moreira, María Victoria Mogollón, Ainhoa Robles-Mezcua, Pablo Elpidio García-Granja, Vicente Climent, Julián Palomino-Doza, Ana García-Álvarez, María Brion, Ramón Brugada, Juan Jiménez-Jáimez, Antoni Bayes-Genis, Tomas Ripoll-Vera, María Luisa Peña-Peña, José F Rodríguez-Palomares, Josefa Gonzalez-Carrillo, Eduardo Villacorta, Maria Angeles Espinosa, Pablo Garcia-Pavia, Jesus G Mirel |
Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development. International journal of molecular sciences 2023 7 24 (13): . Sara Ferreira Pires, Juliana Sobral de Barros, Silvia Souza da Costa, Gabriel Bandeira do Carmo, Marília de Oliveira Scliar, André van Helvoort Lengert, Érica Boldrini, Sandra Regini Morini da Silva, Daniel Onofre Vidal, Mariana Maschietto, Ana Cristina Victorino Krepisc |
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms. Orphanet journal of rare diseases 2023 6 18 (1): 137. Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zh |
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 |
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy. Neurogenetics 2023 4 . Lin Zhi-Jian, Huang Bi-Xia, Su Li-Fang, Zhu Sheng-Yin, He Jun-Wei, Chen Guo-Zhang, Lin Peng-Xi |
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 |
Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified. eNeurologicalSci 2023 2 30 100446. Bakhshandeh MohammadKazem, Behroozi Sami |
Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy. The journal of applied laboratory medicine 2023 2 . Buitrago Tatiana, García-Acero Mary, Guerra-Torres Mariana, Pineda Tatiana, Gámez Tatiana, Suárez-Obando Fernando, García-Robles Reggie, Ayala-Ramírez Pao |
Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India. Iranian journal of child neurology 2023 2 17 (1): 29-37. Sattenapalli Nigama Chandra, Areti Anka Rao, Koteswara Rao Siva Naga, Alavala Rajasekhar Reddy, Kulandaivelu Uma Sank |
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 |
Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients. F1000Research 2023 11 11 148. Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San L |
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 |
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 2024 4 . Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan |
Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting. European journal of medical research 2024 1 29 (1): 37. Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Roshan Liyanage, Dhammika Amaratunga, Yetrib Hathout, Harry W M Steinbusch, Ashwin Dalal, Eric P Hoffman, K Ranil D de Sil |
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- Page last updated:May 06, 2024
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