Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Disease and HEXA[original query] |
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| Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. Genetic testing 2004 8 (2): 174-80. Branda Kelly Johnston, Tomczak Jerzy, Natowicz Marvin |
| Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Human genetics 2004 1 114 (4): 366-76. Frisch Amos, Colombo Roberto, Michaelovsky Elena, Karpati Mazal, Goldman Boleslaw, Peleg Le |
| Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. Molecular genetics and metabolism 2006 Feb 87 (2): 122-7. Vallance Hilary, Morris Tara J, Coulter-Mackie Marion, Lim-Steele Joyce, Kaback Micha |
| Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Pediatric research 2010 Feb 67 (2): 217-20. Park Noh Jin, Morgan Craig, Sharma Rajesh, Li Yuanyin, Lobo Raynah M, Redman Joy B, Salazar Denise, Sun Weimin, Neidich Julie A, Strom Charles |
| Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene. Genetic testing and molecular biomarkers 2011 1 15 (3): 123-6. Ribeiro Diogo, Duarte Ana Joana, Amaral Ol |
| The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013 Apr 80 (17): 1606-10. Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger A |
| Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Molecular genetics & genomic medicine 2013 Nov 1 (4): 260-8. Hoffman Jodi D, Greger Valerie, Strovel Erin T, Blitzer Miriam G, Umbarger Mark A, Kennedy Caleb, Bishop Brian, Saunders Patrick, Porreca Gregory J, Schienda Jaclyn, Davie Jocelyn, Hallam Stephanie, Towne Charl |
| Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. PloS one 2015 10 (5): e0125204. Clark Lorraine N, Chan Robin, Cheng Rong, Liu Xinmin, Park Naeun, Parmalee Nancy, Kisselev Sergey, Cortes Etty, Torres Paola A, Pastores Gregory M, Vonsattel Jean P, Alcalay Roy, Marder Karen, Honig Lawrence L, Fahn Stanley, Mayeux Richard, Shelanski Michael, Di Paolo Gilbert, Lee Joseph |
| A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations. Journal of human genetics 2015 Mar 60 (3): 113-8. Hong Kyung-Won, Lyu Jieun, Lee So Hyun, Choi Bo Youl, Kim Sung Soo, Kim Yeonju |
| Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population. Genetic testing and molecular biomarkers 2016 Sep 20 (9): 504-9. Mehta Nikita, Lazarin Gabriel A, Spiegel Erica, Berentsen Kathleen, Brennan Kelly, Giordano Jessica, Haque Imran S, Wapner Rona |
| Simultaneous Genotyping of the rs4762 and rs699 Polymorphisms in Angiotensinogen Gene and Correlation with Iranian CAD Patients with Novel Hexa-primer ARMS-PCR. Iranian journal of public health 2017 Jun 46 (6): 811-819. Khatami Mehri, Heidari Mohammad Mehdi, Hadadzadeh Mehdi, Scheiber-Mojdehkar Barbara, Bitaraf Sani Morteza, Houshmand Masso |
| Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS genetics 2018 5 14 (5): e1007329. Rivas Manuel A, Avila Brandon E, Koskela Jukka, Huang Hailiang, Stevens Christine, Pirinen Matti, Haritunians Talin, Neale Benjamin M, Kurki Mitja, Ganna Andrea, Graham Daniel, Glaser Benjamin, Peter Inga, Atzmon Gil, Barzilai Nir, Levine Adam P, Schiff Elena, Pontikos Nikolas, Weisburd Ben, Lek Monkol, Karczewski Konrad J, Bloom Jonathan, Minikel Eric V, Petersen Britt-Sabina, Beaugerie Laurent, Seksik Philippe, Cosnes Jacques, Schreiber Stefan, Bokemeyer Bernd, Bethge Johannes, , , , Heap Graham, Ahmad Tariq, Plagnol Vincent, Segal Anthony W, Targan Stephan, Turner Dan, Saavalainen Paivi, Farkkila Martti, Kontula Kimmo, Palotie Aarno, Brant Steven R, Duerr Richard H, Silverberg Mark S, Rioux John D, Weersma Rinse K, Franke Andre, Jostins Luke, Anderson Carl A, Barrett Jeffrey C, MacArthur Daniel G, Jalas Chaim, Sokol Harry, Xavier Ramnik J, Pulver Ann, Cho Judy H, McGovern Dermot P B, Daly Mark |
New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
Scientific reports 2018 Apr 8 (1): 5701. Lee Ho-Sun, Kim Yongkang, Park Taesu |
| Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
| Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clinical neurology and neurosurgery 2018 2 167 43-53. Mahdieh Nejat, Mikaeeli Sahar, Tavasoli Ali Reza, Rezaei Zahra, Maleki Majid, Rabbani Bahar |
| Prenatal Diagnosis of Tay-Sachs Disease. Methods in molecular biology (Clifton, N.J.) 2018 12 1885 233-250. Zhang Jinglan, Chen Hongjie, Kornreich Ruth, Yu Chun |
| Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India. Journal of human genetics 2019 Aug . Mistri Mehul, Mehta Sanjeev, Solanki Dhaval, Kamate Mahesh, Gupta Neerja, Kabra Madhulika, Puri Ratna, Girisha Katta, Hariharan Sankar, Nampoothiri Sheela, Sheth Frenny, Sheth Jaye |
| Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA. Human genome variation 2019 8 5 18003. Dastsooz Hassan, Alipour Mohsen, Mohammadi Sanaz, Kamgarpour Fatemeh, Dehghanian Fatemeh, Fardaei Maj |
| Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease. Journal of neurology 2019 5 266 (8): 1953-1959. Jahnová Helena, Poup?tová Helena, Jire?ková Jitka, Vlášková Hana, Koš?álová Eva, Mazanec Radim, Zumrová Alena, Me?í? Petr, Mušová Zuzana, Magner Mart |
| Analysis of the Interaction between Polygenic Risk Score and Calorie Intake in Obesity in the Korean Population. Lifestyle genomics 2020 Dec 1-10. Lee Won-Jun, Lim Ji Eun, Jung Hae Un, Kang Ji-One, Park Taesung, Won Sungho, Rhee Sang Youl, Kim Mi Kyung, Kim Yeon-Jung, Oh Bermse |
| A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.
Genes 2021 May 12 (5): . Kim Hye-Rim, Jin Hyun-Seok, Eom Yong-B |
| Synergistic effect between the KCNQ1 haplotype and alcohol consumption on the development of type 2 diabetes mellitus in Korean cohorts. Scientific reports 2021 Nov 11 (1): 21796. Park Ji Young, Yoo Min-Gyu, Yun Ji Ho, Lee Hye-Ja, Park Sang I |
| Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 11 43 (5): 3273-3281. Májovská Jitka, Hennig Anita, Nestrasil Igor, Schneider Susanne A, Jahnová Helena, Van??ková Manuela, Magner Martin, Dušek Pe |
| The potential effects of HECTD4 variants on fasting glucose and triglyceride levels in relation to prevalence of type 2 diabetes based on alcohol intake. Archives of toxicology 2022 Jun . Lee Yoo Jeong, Lee Hansongyi, Jang Han Byul, Yoo Min-Gyu, Im Sumin, Koo Soo Kyung, Lee Hye- |
| Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Orphanet journal of rare diseases 2023 3 18 (1): 52. Ibrahim Doaa M A, Ali Ola S M, Nasr Hala, Fateen Ekram, AbdelAleem Ali |
| Influence of blood pressure polygenic risk scores and environmental factors on coronary artery disease in the Korean Genome and Epidemiology Study. Journal of human hypertension 2023 11 . Kyungsook Woo, Ji Eun Lim, Eun Young L |
| Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay?Sachs disease. Human genome variation 2024 11 11 (1): 43. Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sak |
| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population. American journal of medical genetics. Part A 2024 10 e63914. Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Rohit Naik, Dhanya Lakshmi Narayanan, Shalini S Nayak, Vivekananda Bhat, Suvasini Sharma, Y Ramesh Bhat, B L Yatheesha, Rajesh Kulkarni, Siddaramappa J Patil, Sheela Nampoothiri, Shahyan Siddiqui, Katta Mohan Girisha, Stephanie Bielas, Anju Shuk |
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