Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Counseling and SMN1[original query] |
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| Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. Journal of Korean medical science 2004 Dec 19 (6): 870-3. Lee Tae-Mi, Kim Sang-Wun, Lee Kwang-Soo, Jin Hyun-Seok, Koo Soo Kyung, Jo Inho, Kang Seongman, Jung Sung-Ch |
| 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 |
| 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- |
| Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. Journal of Zhejiang University. Science. B 2009 Jan 10 (1): 29-34. Liang Yu-hua, Chen Xiao-ling, Yu Zhong-sheng, Chen Chun-yue, Bi Sheng, Mao Lian-gen, Zhou Bo-lin, Zhang Xian-ni |
| 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 |
| Incidence of spinal muscular atrophy in Poland--more frequent than predicted? Neuroepidemiology 2010 34 (3): 152-7. Jedrzejowska Maria, Milewski Michal, Zimowski Janusz, Zagozdzon Pawel, Kostera-Pruszczyk Anna, Borkowska Janina, Sielska Danuta, Jurek Marta, Hausmanowa-Petrusewicz Ire |
| New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy. Genetic testing and molecular biomarkers 2011 May 15 (5): 319-26. Gonçalves-Rocha Miguel, Oliveira Jorge, Rodrigues Luísa, Santos Rosár |
| [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 |
| 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 |
| [Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 467-470. Tan Jianqiang, Zhang Xu, Wang Yuanliu, Luo Shiqiang, Yang Fanghua, Liu Bailing, Cai R |
| [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 |
| 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 |
| 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 |
| Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
| [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 |
| 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 |
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