Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 73 Records) |
Query Trace: SMN2[original query] |
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Specific Gene Capture Combined with Restriction-Fragment Release for Directly Fluorescent Genotyping of Single-Nucleotide Polymorphisms in Diagnosing Spinal Muscular Atrophy. Analytical chemistry 2018 9 90 (19): 11599-11606. Wang Chun-Chi, Chen Chung-An, Jong Yuh-Jyh, Kou Hwang-Sha |
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human genetics 2019 Feb . Ruhno Corey, McGovern Vicki L, Avenarius Matthew R, Snyder Pamela J, Prior Thomas W, Nery Flavia C, Muhtaseb Abdurrahman, Roggenbuck Jennifer S, Kissel John T, Sansone Valeria A, Siranosian Jennifer J, Johnstone Alec J, Nwe Pann H, Zhang Ren Z, Swoboda Kathryn J, Burghes Arthur H |
Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy. Frontiers in genetics 2019 11 10 1105. Zhao Mingjue, Lian Mulias, Cheah Felicia S H, Tan Arnold S C, Agarwal Anupriya, Chong Samuel |
Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement? Frontiers in genetics 2020 3 11 54. Vorster Elana, Essop Fahmida B, Rodda John L, Krause Aman |
[Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 384-388. Zhang Yinhong, Wang Lei, He Jing, Guo Jingjing, Jin Chanchan, Tang Xinhua, Zhang Jinman, Chen Hong, Zhang Jie, Su Jie, Zhu Baoshe |
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology. Genetics 2020 10 6 (5): e505. Mendonça Rodrigo de Holanda, Matsui Ciro, Polido Graziela Jorge, Silva André Macedo Serafim, Kulikowski Leslie, Torchio Dias Alexandre, Zanardo Evelin Aline, Solla Davi Jorge Fontoura, Gurgel-Giannetti Juliana, de Moura Ana Carolina Monteiro Lessa, Sampaio Gabriela Palhares Campolina, Oliveira Acary Souza Bulle, de Souza Paulo Victor Sgobbi, Pinto Wladimir Bocca Vieira de Rezende, Gonçalves Eduardo Augusto, Farias Igor Braga, Nardes Flávia, Araújo Alexandra Prufer de Queiroz Campos, Marques Wilson, Tomaselli Pedro José, Ribeiro Mara Dell Ospedale, Kitajima João Paulo, Paoli Monteiro Fabíola, Saute Jonas Alex Morales, Becker Michele Michelin, Saraiva-Pereira Maria Luiza, Brusius-Facchin Ana Carolina, van der Linden Vanessa, Florêncio Rodrigo Neves, Barbosa André Vinícius Soares, Machado-Costa Marcela Camara, Pessoa André Luiz Santos, Souza Leticia Silva, Franca Marcondes Cavalcante, Kok Fernando, Reed Umbertina Conti, Zanoteli Edm |
SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Human mutation 2020 10 41 (12): 2073-2077. Lopez-Lopez Daniel, Loucera Carlos, Carmona Rosario, Aquino Virginia, Salgado Josefa, Pasalodos Sara, Miranda María, Alonso Ángel, Dopazo Joaqu |
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene. Brain & development 2020 10 43 (2): 294-302. Niba Emma Tabe Eko, Nishio Hisahide, Wijaya Yogik Onky Silvana, Lai Poh San, Tozawa Takenori, Chiyonobu Tomohiro, Yamadera Misaki, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Shinohara Masaka |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. International journal of molecular sciences 2021 8 22 (16): . Costa-Roger Mar, Blasco-Pérez Laura, Cuscó Ivon, Tizzano Eduardo |
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis. Neurology. Genetics 2021 6 7 (4): e598. Bos Jeroen W, Groen Ewout J N, Wadman Renske I, Curial Chantall A D, Molleman Naomi N, Zegers Marinka, van Vught Paul W J, Snetselaar Reinier, Vijzelaar Raymon, van der Pol W Ludo, van den Berg Leonard |
Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development 2021 4 43 (7): 745-758. Wijaya Yogik Onky Silvana, Ar Rohmah Mawaddah, Niba Emma Tabe Eko, Morisada Naoya, Noguchi Yoriko, Hidaka Yasufumi, Ozasa Shiro, Inoue Takeshi, Shimazu Tomoyuki, Takahashi Yuya, Tozawa Takenori, Chiyonobu Tomohiro, Inoue Takushi, Shiroshita Tomoyoshi, Yokoyama Atsushi, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Nishio Hisahide, Shinohara Masaka |
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 2021 1 22 (1): 53-64. Stabley Deborah L, Holbrook Jennifer, Scavina Mena, Crawford Thomas O, Swoboda Kathryn J, Robbins Katherine M, Butchbach Matthew E |
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. International journal of molecular sciences 2022 8 23 (15): . Blasco-Pérez Laura, Costa-Roger Mar, Leno-Colorado Jordi, Bernal Sara, Alias Laura, Codina-Solà Marta, Martínez-Cruz Desirée, Castiglioni Claudia, Bertini Enrico, Travaglini Lorena, Millán José M, Aller Elena, Sotoca Javier, Juntas Raúl, Hoei-Hansen Christina Engel, Moreno-Escribano Antonio, Guillén-Navarro Encarna, Costa-Comellas Laura, Munell Francina, Boronat Susana, Rojas-García Ricardo, Povedano Mónica, Cuscó Ivon, Tizzano Eduardo |
Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing. The Journal of molecular diagnostics : JMD 2022 May . Li Shuyuan, Han Xu, Xu Yan, Chang Chunxin, Gao Li, Li Jiaqi, Lu Yulin, Mao Aiping, Wang Yanl |
Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiology of aging 2022 Aug 116 1-11. Nagy Zsófia Flóra, Pál Margit, Salamon András, Kafui Esi Zodanu Gloria, Füstös Dalma, Klivényi Péter, Széll Már |
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans. Orphanet journal of rare diseases 2022 3 17 (1): 133. Mahungu Amokelani C, Monnakgotla Nomakhosazana, Nel Melissa, Heckmann Jeannine |
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. Genes 2023 7 14 (7): . Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D'Sil |
Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry 2023 7 548 117496. Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping |
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. Journal of neuromuscular diseases 2023 7 . Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagès, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, Simone Rost, Eva-Christina Prott, Susanne Grinzinger, Anna Hotter, Verena Haug, Sabine Niemeier, Lucia Wiethoff-Ubrig, Tim Hagenacker, Klaus Goldhahn, Arpad von Moers, Maggie C Walter, Peter Reilich, Katja Eggermann, Florian Kraft, Ingo Kurth, Hannes Erdmann, Elke Holinski-Feder, Teresa Neuhann, Angela Abic |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method. Global medical genetics 2023 6 10 (2): 117-122. Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurk |
Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province. BMC medical genomics 2023 3 16 (1): 39. Huang Zhiwei, Yang Qingchan, Ye Jianxiang, Huang Jianxing, Lin Jin, Chen Jing, Liang Zizhao, Cao Zij |
Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia. Cureus 2023 11 15 (10): e46452. Alaa Alghamdi, Shaikhah AlDossary, Wala Abdulaziz Alabdulqader, Fawzia Amer, Mona Ali, Momen Almomen, Fouad Algham |
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. American journal of human genetics 2023 1 110 (2): 240-250. Chen Xiao, Harting John, Farrow Emily, Thiffault Isabelle, Kasperaviciute Dalia, , Hoischen Alexander, Gilissen Christian, Pastinen Tomi, Eberle Michael |
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy. Human genomics 2024 9 18 (1): 110. Ju Long, Di Cui, Chunhui Yu, Wanli Me |
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy. Journal of neurogenetics 2024 9 1-10. Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dund |
[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 9 41 (9): 1124-1130. Tingting Yang, Caiqin Guo, Danfeng Fang, Yi Liu, Yongguo |
Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy. Clinical chemistry and laboratory medicine 2024 6 . Mei Yao, Liya Jiang, Yue Yan, Yicheng Yu, Yuwei Chen, Xiaoyi Wang, Yijie Feng, Yiqin Cui, Dongming Zhou, Feng Gao, Shanshan M |
Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis. Advances in therapy 2024 5 . Elmor D Pineda, Tu My To, Travis L Dickendesher, Sheila Shapouri, Susan T Iannacco |
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024 5 51 17-23. Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johanns |
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