HuGE Literature Finder
Records 1-30
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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 |
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Cardiopulmonary phenotypic discordance is common in Duchenne muscular dystrophy.
Pediatric pulmonology 2019 Feb 54 (2): 186-193. Jin Justin B, Carter John C, Sheehan Daniel W, Birnkrant David |
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Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.
Chinese medical journal 2018 Apr 131 (7): 770-775. Zhao Hui-Hui, Sun Xue-Ping, Shi Ming-Chao, Yi Yong-Xiang, Cheng Hong, Wang Xing-Xia, Xu Qing-Cheng, Ma Hong-Ming, Wu Hao-Quan, Jin Qing-Wen, Niu |
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Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.
Journal of human genetics 2017 Jul . Zimowski Janusz G, Pawelec Magdalena, Purzycka Joanna K, Szirkowiec Walentyna, Zaremba Jac |
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?-Sarcoglycan and Dystrophin Mutation Spectrum in an Algerian Cohort.
Muscle & nerve 2016 Oct . Dalichaouche Imene, Sifi Yamina, Roudaut Carinne, Sifi Karima, Hamri Abdelmadjid, Rouabah Leila, Abadi Noureddine, Richard Isabel |
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Association Study of Exon Variants in the NF-?B and TGF? Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
American journal of human genetics 2016 Oct . Bello Luca, Flanigan Kevin M, Weiss Robert B, , Spitali Pietro, Aartsma-Rus Annemieke, Muntoni Francesco, Zaharieva Irina, Ferlini Alessandra, Mercuri Eugenio, Tuffery-Giraud Sylvie, Claustres Mireille, Straub Volker, Lochmüller Hanns, Barp Andrea, Vianello Sara, Pegoraro Elena, Punetha Jaya, Gordish-Dressman Heather, Giri Mamta, McDonald Craig M, Hoffman Eric P, |
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[Mutation screening of 433 families with Duchenne/Becker muscular dystrophy].
Zhonghua yi xue za zhi 2016 Apr 96 (16): 1261-9. Bai Y, Li S, Zong Y N, Li X L, Zhao Z H, Kong X |
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Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.
Journal of child neurology 2015 Oct 30 (11): 1472-82. Banihani Rudaina, Smile Sharon, Yoon Grace, Dupuis Annie, Mosleh Maureen, Snider Andrea, McAdam Lau |
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Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Developmental medicine and child neurology 2015 Sep . Ricotti Valeria, Mandy William Pl, Scoto Mariacristina, Pane Marika, Deconinck Nicolas, Messina Sonia, Mercuri Eugenio, Skuse David H, Muntoni Frances |
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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 |
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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 |
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Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Muscle & nerve 2015 Apr . Straathof Chiara S M, Van Heusden Dave, Ippel Pieternella F, Post Jan G, Voermans Nicol C, De Visser Marianne, Brusse Esther, Van Den Bergen Janneke C, Van Der Kooi Anneke J, Verschuuren Jan J G M, Ginjaar Hendrika |
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Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.
Neuromuscular disorders : NMD 2015 Mar 25 (3): 231-7. van den Bergen J C, Wokke B H A, Hulsker M A, Verschuuren J J G M, Aartsma-Rus A |
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Left ventricular dysfunction in duchenne muscular dystrophy and genotype.
The American journal of cardiology 2014 Jul 114 (2): 284-9. Ashwath Mahi L, Jacobs Irwin B, Crowe Carol A, Ashwath Ravi C, Super Dennis M, Bahler Robert |
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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 |
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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 |
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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 |
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X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.
European journal of oral sciences 2013 Apr 121 (2): 2. Patel PJ, Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Wu T, Murray T, Rose M, Redett RJ, Jin SC, Lie RT, Wu-Chou YH, Wang H, Ye X, Yeow V, Chong S, Jee SH, Shi B, Scott AF |
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Comparison of X chromosome inactivation in Duchenne muscle/myocardium manifesting carriers, non manifesting carriers and related daughters.
Clinical genetics 2012 Oct . Viggiano E, Picillo E, Cirillo A, Politano L |
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Evidence-based path to newborn screening for duchenne muscular dystrophy.
Annals of neurology 2012 Mar 71 (3): 3. Mendell JR, Shilling C, Leslie ND, Flanigan KM, Al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB |
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[Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2011 Oct 13 (10): 804-7. Wang Li-Bo, Ma Hong-Wei, Wang Lin, Tian Xiao-Bo, Hu Man, Ren Shuang, Tan Ying-H |
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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Journal of neurology 2011 Sep 258 (9): 1610-23. Magri Francesca, Govoni Alessandra, D'Angelo Maria Grazia, Del Bo Roberto, Ghezzi Serena, Sandra Gandossini, Turconi Anna Carla, Sciacco Monica, Ciscato Patrizia, Bordoni Andreina, Tedeschi Silvana, Fortunato Francesco, Lucchini Valeria, Bonato Sara, Lamperti Costanza, Coviello Domenico, Torrente Yvan, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Piet |
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Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2011 Jan 18 (1): 90-5. Wingeier Kevin, Giger Elisabeth, Strozzi Susi, Kreis Roland, Joncourt Franziska, Conrad Bernard, Gallati Sabina, Steinlin Ma |
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[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2010 Dec 42 (6): 661-6. Zhang Yan-zhi, Xiong Hui, Wang Xiao-zhu, Wang Shuo, Luo Jing, Wang Jing-min, Jiang Yu-wu, Chang Xing-zhi, Pan Hong, Qi Jian-guang, Li Wan-zhen, Yuan Yun, Wu Xi- |
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Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.
The Indian journal of medical research 2010 Sep 132 303-11. Murugan Sakthivel, Chandramohan Arthi, Lakshmi Bremadesam Ram |
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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
PloS one 2010 5 (1): e8803. Taylor Peter J, Betts Grant A, Maroulis Sarah, Gilissen Christian, Pedersen Robyn L, Mowat David R, Johnston Heather M, Buckley Michael |
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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009 Oct 18 (20): 3779-94. Daoud Fatma, Angeard Nathalie, Demerre Bénédicte, Martie Itxaso, Benyaou Rabah, Leturcq France, Cossée Mireille, Deburgrave Nathalie, Saillour Yoann, Tuffery Sylvie, Urtizberea Andoni, Toutain Annick, Echenne Bernard, Frischman Martine, Mayer Michèle, Desguerre Isabelle, Estournet Brigitte, Réveillère Christian, Penisson-Besnier , Cuisset Jean Marie, Kaplan Jean Claude, Héron Delphine, Rivier François, Chelly Jam |
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Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Neuromuscular disorders : NMD 2009 Jun 19 (6): 383-90. Almomani Rowida, van der Stoep Nienke, Bakker Egbert, den Dunnen Johan T, Breuning Martijn H, Ginjaar Ieke |
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Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Journal of child neurology 2009 Apr 24 (4): 425-30. Cunniff Christopher, Andrews Jennifer, Meaney F John, Mathews Katherine D, Matthews Dennis, Ciafaloni Emma, Miller Timothy M, Bodensteiner John B, Miller Lisa A, James Katherine A, Druschel Charlotte M, Romitti Paul A, Pandya Shr |
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Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
Neuromuscular disorders : NMD 2009 Feb 19 (2): 108-12. Pikó Henriett, Vancsó Viktor, Nagy Bálint, Bán Zoltán, Herczegfalvi Agnes, Karcagi Veroni |
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[Evaluation of multiplex PCR assay using dual priming oligonucleotide system for detection mutation in the Duchenne muscular dystrophy gene].
The Korean journal of laboratory medicine 2008 Oct 28 (5): 386-91. Park Younhee, Kim Juwon, Choi Jong Rak, Song Jaewoo, Chung Jong Shin, Lee Kyung |
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Sensitivity and frequencies of dystrophin gene mutations in Thai DMD/BMD patients as detected by multiplex PCR.
Disease markers 2008 25 (2): 115-21. Sura Thanyachai, Eu-ahsunthornwattana Jakris, Pingsuthiwong Sarinee, Busabaratana Mani |
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[Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007 Aug 24 (4): 460-3. Shen Ben-chang, Zhang Cheng, Sun Xiao-fang, Zhang Hui-min, Li Shao-yi |
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
BMC medical genetics 2007 8 (): 19. Nishiyama Atsushi, Takeshima Yasuhiro, Saiki Kayoko, Narukage Akiko, Oyazato Yoshinobu, Yagi Mariko, Matsuo Masafu |
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Analysis of dystrophin gene deletions by multiplex PCR in eastern India.
Neurology India 2006 Sep 54 (3): 310-1. Basak Jayasri, Dasgupta Uma B, Banerjee Tapas K, Senapati Asit K, Das Shyamal K, Mukherjee Subhash |
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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 |
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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 |
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Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.
Indian journal of medical sciences 2003 Jan 57 (1): 1-6. Mallikarjuna Rao G N, Hussain T, Geetha Devi N, Jain Suman, Chandak G R, Ananda Raj M P J |
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Comparative study on deletions of the dystrophin gene in three Asian populations.
Journal of human genetics 2002 47 (10): 552-5. Lai Poh-San, Takeshima Yasuhiro, Adachi Kayo, Van Tran Khanh, Nguyen Hoan Thi, Low Poh-Sim, Matsuo Masafu |
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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 |
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[Deletions in the dystrophin gene and its phenotype expression].
Srpski arhiv za celokupno lekarstvo 0 129 Suppl 1 (): 3-5. Lali? T, Gu?-S?eki? M, Djurisi? M, Radivojevi? D, Zamurovi? D, Todorovi? |
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[Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy].
Revista de neurologia 0 48 (2): 66-70. González-Herrera L, Gamas-Trujillo P A, García-Escalante M G, Castillo-Zapata I, Pinto-Escalante |
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Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
Neurology India 0 56 (3): 374-8. Dastur Rashna S, Gaitonde Pradnya S, Khadilkar Satish V, Nadkarni Jayshree |
- Page last reviewed:Mar 16, 2019
- Page last updated:May 21, 2020
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