Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Disease and DMPK[original query] |
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| 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. Human mutation 2002 Feb 19 (2): 131-9. Savi? Dusanka, Rakocvic-Stojanovic Vidosava, Keckarevic Dusan, Culjkovic Biljana, Stojkovic Oliver, Mladenovic Jelena, Todorovic Slobodanka, Apostolski Slobodan, Romac Stan |
| MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. Journal of neurology 2012 Nov . Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B |
| Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. European journal of heart failure 2013 Jan . van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP |
| [Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. Genetika 2015 Jun 51 (6): 724-32. Swarovskaya M G, Stepanova S K, Marussin A V, Sukhomyasova A L, Maximova N R, Stepanov V |
| SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
| Haplotype analysis and LD detection at DM1 locus. Gene 2015 Aug 567 (1): 45-50. Kumar Ashok, Agarwal Sarita, Pradhan Sun |
| Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. Investigative ophthalmology & visual science 2017 Sep 58 (11): 4579-4585. Mootha V Vinod, Hansen Brock, Rong Ziye, Mammen Pradeep P, Zhou Zhengyang, Xing Chao, Gong X |
| Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. Neuromuscular disorders : NMD 2017 10 27 (12): 1106-1114. Murillo-Melo N M, Márquez-Quiróz L C, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero Y S, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña J |
| Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Investigative ophthalmology & visual science 2018 Jun 59 (7): 3053-3057. Winkler Nelson S, Milone Margherita, Martinez-Thompson Jennifer M, Raja Harish, Aleff Ross A, Patel Sanjay V, Fautsch Michael P, Wieben Eric D, Baratz Keith |
| Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations. Human molecular genetics 2018 Mar . Lamontagne Maxime, Bérubé Jean-Christophe, Obeidat Ma'en, Cho Michael H, Hobbs Brian D, Sakornsakolpat Phuwanat, de Jong Kim, Boezen H Marike, , Nickle David, Hao Ke, Timens Wim, van den Berge Maarten, Joubert Philippe, Laviolette Michel, Sin Don D, Paré Peter D, Bossé Yoh |
| The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
| Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis. Pediatric neurology 2024 9 161 9-17. Carlos Pascual-Morena, Iván Cavero-Redondo, Alicia Saz-Lara, Irene Martínez-García, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaí |
- Page last reviewed:Feb 1, 2024
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