Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: DMPK[original query] |
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CTG repeat polymorphism in DMPK gene in healthy Yugoslav population. Acta neurologica Scandinavica 2002 Jan 105 (1): 55-8. Culjkovi? B, Stojkovi? O, Vukosavi? S, Savi? D, Rakocevic V, Apostolski S, Romac |
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 |
[Polymorphism of CTG-repeats in the DMPK gene in populations of Yakutia and central Asia]. Molekuliarnaia biologiia 0 39 (3): 385-93. Fedorova S A, Khusainova R I, Kutuev I A, Sukhomiatova A L, Nikolaeva I A, Kulichkin S S, Akhmetova V L, Salimova A Z, Sviatova G S, Berezina G M, Platonov F A, Khusnutdinova E |
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population. Molecular and cellular probes 2005 Feb 19 (1): 71-4. Vallo L, Bonifazi E, Borgiani P, Novelli G, Botta |
High prevalence of the CYP2B6 516G-->T(*6) variant and effect on the population pharmacokinetics of efavirenz in HIV/AIDS outpatients in Zimbabwe. European journal of clinical pharmacology 2008 Apr 64 (4): 357-65. Nyakutira Christopher, Röshammar Daniel, Chigutsa Emmanuel, Chonzi Prosper, Ashton Michael, Nhachi Charles, Masimirembwa Coll |
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample. Acta neurologica Scandinavica 2009 May 119 (5): 321-4. Amenabar F, Jorquera H, Acuña M, Cifuentes |
CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008 May 35 (2): 216-9. Shojasaffar Bahareh, Moradin Neda, Kahrizi Kimia, Cobo Ana Maria, Najmabadi Hosse |
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. The Korean journal of laboratory medicine 2008 Dec 28 (6): 483-92. Kim So Yeon, Kim Ji Yeon, Kim Gyoung Pyoung, Sung Jung-Jun, Lim Kyu Sang, Lee Kwang-Woo, Chae Jong Hee, Hong Yoon-Ho, Seong Moon-Woo, Park Sung S |
CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2010 Dec 17 (12): 1520-2. Theerasasawat S, Papsing C, Pulkes |
Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population. Annals of clinical and laboratory science 2010 40 (2): 156-62. Kwon Min-Jung, Lee Seung-Tae, Kim Byoung Joon, Sung Duk Hyun, Kim Jong-Won, Ki Chang-Se |
Mechanisms of statin-induced myalgia assessed by physiogenomic associations. Atherosclerosis 2011 Oct 218 (2): 451-6. Ruaño Gualberto, Windemuth Andreas, Wu Alan H B, Kane John P, Malloy Mary J, Pullinger Clive R, Kocherla Mohan, Bogaard Kali, Gordon Bruce R, Holford Theodore R, Gupta Ankur, Seip Richard L, Thompson Paul |
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 |
Impact of OATP1B1, MDR1, and CYP3A4 expression in liver and intestine on interpatient pharmacokinetic variability of atorvastatin in obese subjects. Clinical pharmacology and therapeutics 2012 Dec . Ulvestad M, Skottheim IB, Jakobsen GS, Bremer S, Molden E, Asberg A, Hjelmesæth J, Andersson TB, Sandbu R, Christensen H |
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 |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
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 |
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. Korean journal of pediatrics 2018 Sep . Kim Hyeong Jung, Na Ji-Hoon, Lee Young-Mo |
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PloS one 2019 5 14 (5): e0216407. Corrales Eyleen, Vásquez Melissa, Zhang Baili, Santamaría-Ulloa Carolina, Cuenca Patricia, Krahe Ralf, Monckton Darren G, Morales Fernan |
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. European journal of human genetics : EJHG 2020 3 28 (7): 956-962. Joosten Isis B T, Hellebrekers Debby M E I, de Greef Bianca T A, Smeets Hubert J M, de Die-Smulders Christine E M, Faber Catharina G, Gerrits Monique |
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia. Translational psychiatry 2021 Feb 11 (1): 84. Mojarad Bahareh A, Yin Yue, Manshaei Roozbeh, Backstrom Ian, Costain Gregory, Heung Tracy, Merico Daniele, Marshall Christian R, Bassett Anne S, Yuen Ryan K |
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 |
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- Page last updated:Apr 16, 2024
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