Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 63 Records) |
| Query Trace: Disease and SMN1[original query] |
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| Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy. Journal of clinical neurology (Seoul, Korea) 2016 Oct . Ahn Eun Ji, Yum Mi Sun, Kim Eun Hee, Yoo Han Wook, Lee Beom Hee, Kim Gu Hwan, Ko Tae Su |
| Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
| Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PloS one 2018 9 13 (9): e0202104. Carson Vincent J, Puffenberger Erik G, Bowser Lauren E, Brigatti Karlla W, Young Millie, Korulczyk Dominika, Rodrigues Ashlin S, Loeven KaLynn K, Strauss Kevin |
| Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Human mutation 2018 6 39 (9): 1284-1298. Karakaya Mert, Storbeck Markus, Strathmann Eike A, Delle Vedove Andrea, Hölker Irmgard, Altmueller Janine, Naghiyeva Leyla, Schmitz-Steinkrüger Lea, Vezyroglou Katharina, Motameny Susanne, Alawbathani Salem, Thiele Holger, Polat Ayse Ipek, Okur Derya, Boostani Reza, Karimiani Ehsan Ghayoor, Wunderlich Gilbert, Ardicli Didem, Topaloglu Haluk, Kirschner Janbernd, Schrank Bertold, Maroofian Reza, Magnusson Olafur, Yis Uluc, Nürnberg Peter, Heller Raoul, Wirth Brunhil |
| Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscular disorders : NMD 2018 2 28 (3): 208-215. Calucho Maite, Bernal Sara, Alías Laura, March Francesca, Venceslá Adoración, Rodríguez-Álvarez Francisco J, Aller Elena, Fernández Raquel M, Borrego Salud, Millán José M, Hernández-Chico Concepción, Cuscó Ivon, Fuentes-Prior Pablo, Tizzano Eduardo |
| 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 |
| Molecular based newborn screening in Germany: Follow-up for cystinosis. Molecular genetics and metabolism reports 2019 10 21 100514. Hohenfellner Katharina, Bergmann Carsten, Fleige Tobias, Janzen Nils, Burggraf Siegfried, Olgemöller Bernd, Gahl William A, Czibere Ludwig, Froschauer Sonja, Röschinger Wulf, Vill Katharina, Harms Erik, Nennstiel U |
| [Clinical practice guidelines for spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (3): 263-268. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association , Pan Jianyan, Tan Hu, Zhou Miaojin, Liang Desheng, Wu Lingqi |
| [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 |
| 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 |
| Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype. Yi chuan = Hereditas 2021 3 43 (2): 160-168. Yanyan Cao, Miaomiao Cheng, Fang Song, Yujin Qu, Jinli Bai, Hong Wa |
| 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 |
| 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 |
| 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 |
| 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 |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy. Neuromuscular disorders : NMD 2023 4 33 (5): 382-390. Bai Jinli, Qu Yujin, OuYang Shijia, Jiao Hui, Wang Yang, Li Jingjing, Huang Wenchen, Zhao Yunlong, Peng Xiaoyin, Wang Depeng, Jin Yuwei, Wang Hong, Song Fa |
| 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 |
| 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 |
| 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 |
| Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China. Biochemical genetics 2024 4 . Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min |
| Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series. Frontiers in genetics 2024 12 15 1502444. Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemalad |
| Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region. BMC medical genomics 2024 11 17 (1): 275. Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afro |
| Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS. The Analyst 2024 11 . Xiaodong Xing, Xing Ji, Xinzhu Liu, Xiaohui Jin, Zhenglei He, Ajing Xu, Wengao Jiang, Wenbo Ji, Yan Liu, Jian Zhang, Xiaohui Hua |
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