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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Counseling and DMD[original query]
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
[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
[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-
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
Neuromuscular disorders : NMD 2019 8 29 (8): 601-613.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner Z
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.
Frontiers in pharmacology 2019 8 10 814.
Wang Dong, Gao Min, Zhang Kaihui, Jin Ruifeng, Lv Yuqiang, Liu Yong, Ma Jian, Wan Ya, Gai Zhongtao, Liu
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
Indian journal of pediatrics 2020 5 87 (7): 495-504.
Kohli Sudha, Saxena Renu, Thomas Elizabeth, Singh Kuldeep, Bijarnia Mahay Sunita, Puri Ratna Dua, Verma Ishwar Chand
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
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
[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
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