Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: GNPTAB[original query] |
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Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clinical genetics 2008 Mar 73 (3): 236-44. Plante M, Claveau S, Lepage P, Lavoie E-M, Brunet S, Roquis D, Morin C, Vézina H, Laprise |
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. Journal of medical genetics 2010 Jan 47 (1): 38-48. Cathey S S, Leroy J G, Wood T, Eaves K, Simensen R J, Kudo M, Stevenson R E, Friez M |
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. Journal of human genetics 2009 Mar 54 (3): 145-51. Otomo Takanobu, Muramatsu Takeshi, Yorifuji Tohru, Okuyama Torayuki, Nakabayashi Hiroki, Fukao Toshiyuki, Ohura Toshihiro, Yoshino Makoto, Tanaka Akemi, Okamoto Nobuhiko, Inui Koji, Ozono Keiichi, Sakai Nor |
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Neurobiology of disease 2014 Sep 69 23-31. Han Tae-Un, Park John, Domingues Carlos F, Moretti-Ferreira Danilo, Paris Emily, Sainz Eduardo, Gutierrez Joanne, Drayna Denn |
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. European journal of human genetics : EJHG 2015 Jul . Raza M Hashim, Domingues Carlos E F, Webster Ronald, Sainz Eduardo, Paris Emily, Rahn Rachel, Gutierrez Joanne, Chow Ho Ming, Mundorff Jennifer, Kang Chang-Soo, Riaz Naveeda, Basra Muhammad A R, Khan Shaheen, Riazuddin Sheikh, Moretti-Ferreira Danilo, Braun Allen, Drayna Denn |
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC genetics 2015 16 7. Chen Huan, Xu Junquan, Zhou Yuxi, Gao Yong, Wang Guoqing, Xia Jiguang, Huen Michael S Y, Siok Wai Ting, Jiang Yuyang, Tan Li Hai, Sun Yim |
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. PloS one 0 11 (9): e0163204. Liu Shuang, Zhang Weimin, Shi Huiping, Yao Fengxia, Wei Min, Qiu Zhengqi |
Genome-wide association study of antibody responses to Plasmodium falciparum candidate vaccine antigens.
Genes and immunity 2016 Jan . Milet J, Sabbagh A, Migot-Nabias F, Luty A J F, Gaye O, Garcia A, Courtin |
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II ?/?]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 5 36 (6): 606-609. Yang Ke, Lou Guiyu, Qi Na, Zhang Yuwei, Zhu Hongjie, Wang Li, Wang Xijuan, Zhang Bi |
Genetic factors and therapy outcomes in persistent developmental stuttering. Journal of communication disorders 2019 4 80 11-17. Frigerio-Domingues Carlos E, Gkalitsiou Zoi, Zezinka Alexandra, Sainz Eduardo, Gutierrez Joanne, Byrd Courtney, Webster Ronald, Drayna Denn |
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of human genetics 2020 7 65 (11): 971-984. Pasumarthi Divya, Gupta Neerja, Sheth Jayesh, Jain S Jamal Md Nurul, Rungsung Ikrormi, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Girisha Katta M, Shukla Anju, Datar Chaitanya, Verma Ishwar C, Puri Ratna Dua, Bhavsar Riddhi, Mistry Mehul, Sankar V H, Gowrishankar Kalpana, Agrawal Divya, Nair Mohandas, Danda Sumita, Soni Jai Prakash, Dalal Ashw |
Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? Genes 2020 6 11 (6): . Nishiyama Kumiko V, Satta Yoko, Gojobori J |
Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering. Advanced genetics (Hoboken, N.J.) 2023 1 2 (2): e10043. Gunasekaran Nandhini Devi, Jayasankaran Chandru, Justin Margret Jeffrey, Krishnamoorthy Mathuravalli, Srisailapathy C R Srikuma |
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- Page last updated:Apr 22, 2024
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