HuGE Literature Finder
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Records 1-36
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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 |
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Genetic findings of Cypriot spinal muscular atrophy patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Oct 36 (10): 1829-34. Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G, Kyriakides T, Zamba-Papanicolaou E, Christodoulou |
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Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.
Journal of human genetics 2015 Aug . Brkušanin Miloš, Kosa? Ana, Jovanovi? Vladimir, Pešovi? Jovan, Brajuškovi? Goran, Dimitrijevi? Nikola, Todorovi? Slobodanka, Romac Stanka, Mili? Raši? Vedrana, Savi?-Pavi?evi? Dušan |
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Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort.
Journal of child neurology 2015 Mar 30 (4): 429-36. Qu Yu-jin, Ge Xiu-shan, Bai Jin-li, Wang Li-wen, Cao Yan-yan, Lu Yan-yu, Jin Yu-wei, Wang Hong, Song Fa |
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A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
Clinical laboratory 2015 61 (5-6): 575-80. Sa'adah Nihayatus, Harahap Nur Imma Fatimah, Nurputra Dian Kesumapramudya, Rochmah Mawaddah Ar, Morikawa Satoru, Nishimura Noriyuki, Sadewa Ahmad Hamim, Astuti Indwiani, Haryana Sofia Mubarika, Saito Toshio, Saito Kayoko, Nishio Hisahi |
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Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2014 Dec 15 (7-8): 563-8. Alías Laura, Bernal Sara, Barceló Maria J, Martínez-Hernández Rebeca, Martínez Elisabeth, Baiget Montserrat, Tizzano Eduardo |
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Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Brain & development 2014 Nov 36 (10): 914-20. Yamamoto Tomoto, Sato Hideyuki, Lai Poh San, Nurputra Dian Kesumapramudya, Harahap Nur Imma Fatimah, Morikawa Satoru, Nishimura Noriyuki, Kurashige Takashi, Ohshita Tomohiko, Nakajima Hideki, Yamada Hiroyuki, Nishida Yoshinobu, Toda Soichiro, Takanashi Jun-Ichi, Takeuchi Atsuko, Tohyama Yumi, Kubo Yuji, Saito Kayoko, Takeshima Yasuhiro, Matsuo Masafumi, Nishio Hisahi |
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Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy.
Analytica chimica acta 2014 Jun 833 40-7. Wang Chun-Chi, Shih Chi-Jen, Jong Yuh-Jyh, Wu Shou-M |
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[Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Apr 31 (2): 152-5. Zeng Guangqun, Zheng Hong, Cheng Jing, Chen Rong, Lin He, Yang Jiyun, Zhang Dingdi |
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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Annals of neurology 2014 Apr 75 (4): 525-32. Sangaré Modibo, Hendrickson Brant, Sango Hammadoun Ali, Chen Kelian, Nofziger Jonathan, Amara Abdelbasset, Dutra Amalia, Schindler Alice B, Guindo Aldiouma, Traoré Mahamadou, Harmison George, Pak Evgenia, Yaro Fatoumata N'Go, Bricceno Katherine, Grunseich Christopher, Chen Guibin, Boehm Manfred, Zukosky Kristen, Bocoum Nouhoum, Meilleur Katherine G, Daou Fatoumata, Bagayogo Koumba, Coulibaly Yaya Ibrahim, Diakité Mahamadou, Fay Michael P, Lee Hee-Suk, Saad Ali, Gribaa Moez, Singleton Andrew B, Maiga Youssoufa, Auh Sungyoung, Landouré Guida, Fairhurst Rick M, Burnett Barrington G, Scholl Thomas, Fischbeck Kenneth |
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[Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Dec 30 (6): 670-2. Gong Bo, Zhang Li, Hou Ya-ping, Hu He-yu, Li Hai-chuan, Tan Mei-yu, Chen Jin, Yu Ji |
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SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013 Sep 14 (5-6): 457-62. Ku?ma-Kozakiewicz Magdalena, J?drzejowska Maria, Ka?mierczak Bea |
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High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots.
Clinica chimica acta; international journal of clinical chemistry 2012 Nov 413 (21-22): 1781-5. Er Tze-Kiong, Kan Tzu-Min, Su Yu-Fa, Liu Ta-Chih, Chang Jan-Gowth, Hung Shih-Ya, Jong Yuh-J |
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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
European journal of human genetics : EJHG 2012 Oct . Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L |
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Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients.
Yonsei medical journal 2012 Jan 53 (1): 1. Lee JB, Lee KA, Hong JM, Suh GI, Choi YC |
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Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.
PloS one 2012 7 (4): e35462. Finkel Richard S, Crawford Thomas O, Swoboda Kathryn J, Kaufmann Petra, Juhasz Peter, Li Xiaohong, Guo Yu, Li Rebecca H, Trachtenberg Felicia, Forrest Suzanne J, Kobayashi Dione T, Chen Karen S, Joyce Cynthia L, Plasterer Thomas, |
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Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.
Muscle & nerve 2011 Jan 43 (1): 26-30. Petit Florence, Cuisset Jean-Marie, Rouaix-Emery Nathalie, Cancés Claude, Sablonnière Bernard, Bieth Eric, Moerman Alexandre, Sukno Sylvie, Hardy Noah, Holder-Espinasse Muriel, Manouvrier-Hanu Sylvie, Vallée Lou |
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Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
European journal of human genetics : EJHG 2010 Sep 18 (9): 978-84. Sheng-Yuan Zhu, Xiong Fu, Chen Ya-Jun, Yan Ti-Zhen, Zeng Jian, Li Liang, Zhang Ya-Ni, Chen Wan-Qun, Bao Xin-Hua, Zhang Cheng, Xu Xiang-M |
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Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification.
The Korean journal of laboratory medicine 2010 Feb 30 (1): 93-6. Yoon Seoyoung, Lee Chang Hoon, Lee Kyung |
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Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.
Annals of clinical and laboratory science 2010 40 (4): 368-74. Kim Juwon, Lee Sang-Guk, Choi Young-Chul, Kang Seong-Woong, Lee Jun-Beom, Choi Jong Rak, Lee Kyung |
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A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
Acta paediatrica (Oslo, Norway : 1992) 2009 May 98 (5): 865-72. Arkblad Eva, Tulinius Már, Kroksmark Anna-Karin, Henricsson Mirja, Darin Nikl |
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Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.
Annals of the Academy of Medicine, Singapore 2009 Feb 38 (2): 139-41. Hasanzad Mandana, Golkar Zahra, Kariminejad Roxana, Hadavi Valeh, Almadani Navid, Afroozan Fariba, Salahshurifar Iman, Shafeghati Yousef, Kahrizi Kimia, Najmabadi Hosse |
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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Human genetics 2009 Feb 125 (1): 29-39. Alías Laura, Bernal Sara, Fuentes-Prior Pablo, Barceló María Jesus, Also Eva, Martínez-Hernández Rebeca, Rodríguez-Alvarez Francisco J, Martín Yolanda, Aller Elena, Grau Elena, Peciña Ana, Antiñolo Guillermo, Galán Enrique, Rosa Alberto L, Fernández-Burriel Miguel, Borrego Salud, Millán José M, Hernández-Chico Concepción, Baiget Montserrat, Tizzano Eduardo |
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Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
Brain & development 2009 Jan 31 (1): 42-5. Watihayati Mohd Shamshudin, Fatemeh Hayati, Marini Marzuki, Atif Amin Baig, Zahiruddin Wan Mohd, Sasongko Teguh Haryo, Tang Thean Hock, Zabidi-Hussin Z A M H, Nishio Hisahide, Zilfalil Bin Al |
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Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
Acta biochimica Polonica 2009 56 (1): 103-8. Jedrzejowska Maria, Milewski Micha?, Zimowski Janusz, Borkowska Janina, Kostera-Pruszczyk Anna, Sielska Danuta, Jurek Marta, Hausmanowa-Petrusewicz Ire |
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Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis.
BMC medical genetics 2009 10 (1): 45. Chen Wan Jin, Dong Wan Juan, Lin Xiao Zhen, Lin Min Ting, Murong Shen Xing, Wu Zhi Ying, Wang Ni |
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[Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2008 Dec 46 (12): 919-23. Song Fang, Qu Yu-jin, Zou Li-ping, Wang Li-wen, Long Mei-juan, Wang Xu, Yang Yan-ling, Chen Qian, Wang Hong, Jin Yu-w |
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Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.
Electrophoresis 2008 Jun . Wang CC, Chang JG, Ferrance J, Chen HY, You CY, Chang YF, Jong YJ, Wu SM, Yeh CH |
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C117T variant in the SMN1 gene found in the Japanese population.
Pediatrics international : official journal of the Japan Pediatric Society 2007 Feb 49 (1): 8-10. Sadewa Ahmad Hamim, Harada Yosuke, Sasongko Teguh Haryo, Matsuo Masafumi, Nishio Hisahi |
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SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Neurology 2006 Oct 67 (7): 1147-50. Corcia P, Camu W, Halimi J-M, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres C R, |
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A feasibility study for the newborn screening of spinal muscular atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics 2006 Jul 8 (7): 428-37. Pyatt Robert E, Prior Thomas |
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Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry.
Clinical chemistry 2006 Mar 52 (3): 361-9. Kao Hung-Yi, Su Yi-Ning, Liao Hsin-Kai, Liu Ming S, Chen Yu- |
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Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005 Dec 22 (6): 559-602. Chen Wan-jin, Wu Zhi-ying, Wang Ning, Lin Min-ting, Mu-rong Shen-xi |
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SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Neurology 2005 Sep 65 (6): 820-5. Veldink J H, Kalmijn S, Van der Hout A H, Lemmink H H, Groeneveld G J, Lummen C, Scheffer H, Wokke J H J, Van den Berg L |
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Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.
Annals of neurology 2002 Feb 51 (2): 243-6. Corcia Philippe, Mayeux-Portas Véronique, Khoris Jawad, de Toffol Bertrand, Autret Alain, Müh Jean-Pierre, Camu William, Andres Christian, |
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Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
Genetics in medicine : official journal of the American College of Medical Genetics 0 4 (1): 20-6. Mailman Matthew D, Heinz John W, Papp Audrey C, Snyder Pamela J, Sedra Mary S, Wirth Brunhilde, Burghes Arthur H M, Prior Thomas |
- Page last reviewed:Mar 1, 2018
- Page last updated:Jun 20, 2019
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