244 related articles for article (PubMed ID: 32645888)
1. The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Ballester-Lopez A; Linares-Pardo I; Koehorst E; Núñez-Manchón J; Pintos-Morell G; Coll-Cantí J; Almendrote M; Lucente G; Arbex A; Magaña JJ; Murillo-Melo NM; Lucia A; Monckton DG; Cumming SA; Ramos-Fransi A; Martínez-Piñeiro A; Nogales-Gadea G
Genes (Basel); 2020 Jul; 11(7):. PubMed ID: 32645888
[TBL] [Abstract][Full Text] [Related]
2. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
Orpana AK; Ho TH; Alagrund K; Ridanpää M; Aittomäki K; Stenman J
J Mol Diagn; 2013 Jan; 15(1):110-5. PubMed ID: 23159592
[TBL] [Abstract][Full Text] [Related]
3. 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.
Savić D; Rakocvic-Stojanovic V; Keckarevic D; Culjkovic B; Stojkovic O; Mladenovic J; Todorovic S; Apostolski S; Romac S
Hum Mutat; 2002 Feb; 19(2):131-9. PubMed ID: 11793472
[TBL] [Abstract][Full Text] [Related]
4. Analysis of CTG repeat length variation in the
Ambrose KK; Ishak T; Lian LH; Goh KJ; Wong KT; Ahmad-Annuar A; Thong MK
BMJ Open; 2017 Mar; 7(3):e010711. PubMed ID: 28363916
[TBL] [Abstract][Full Text] [Related]
5. Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population.
Magaña JJ; Cortés-Reynosa P; Escobar-Cedillo R; Gómez R; Leyva-García N; Cisneros B
Mol Biol Rep; 2011 Feb; 38(2):1341-6. PubMed ID: 20635151
[TBL] [Abstract][Full Text] [Related]
6.
Visconti VV; Macrì E; D'Apice MR; Centofanti F; Massa R; Novelli G; Botta A
Int J Mol Sci; 2023 Jun; 24(12):. PubMed ID: 37373276
[TBL] [Abstract][Full Text] [Related]
7. Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
Kim SY; Kim JY; Kim GP; Sung JJ; Lim KS; Lee KW; Chae JH; Hong YH; Seong MW; Park SS
Korean J Lab Med; 2008 Dec; 28(6):483-92. PubMed ID: 19127114
[TBL] [Abstract][Full Text] [Related]
8. Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre.
Khadilkar S; Jagiasi K; Yadav J; Chavan SV; Soni G; Patel B
J Assoc Physicians India; 2017 Jun; 65(6):32-37. PubMed ID: 28782311
[TBL] [Abstract][Full Text] [Related]
9. Technical standards and guidelines for myotonic dystrophy type 1 testing.
Prior TW;
Genet Med; 2009 Jul; 11(7):552-5. PubMed ID: 19546810
[TBL] [Abstract][Full Text] [Related]
10. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Kalman L; Tarleton J; Hitch M; Hegde M; Hjelm N; Berry-Kravis E; Zhou L; Hilbert JE; Luebbe EA; Moxley RT; Toji L
J Mol Diagn; 2013 Jul; 15(4):518-25. PubMed ID: 23680132
[TBL] [Abstract][Full Text] [Related]
11. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1.
Salvatori S; Fanin M; Trevisan CP; Furlan S; Reddy S; Nagy JI; Angelini C
Neurol Sci; 2005 Oct; 26(4):235-42. PubMed ID: 16193250
[TBL] [Abstract][Full Text] [Related]
12. Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
Mootha VV; Hansen B; Rong Z; Mammen PP; Zhou Z; Xing C; Gong X
Invest Ophthalmol Vis Sci; 2017 Sep; 58(11):4579-4585. PubMed ID: 28886202
[TBL] [Abstract][Full Text] [Related]
13. Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.
Johnson NE; Butterfield RJ; Mayne K; Newcomb T; Imburgia C; Dunn D; Duval B; Feldkamp ML; Weiss RB
Neurology; 2021 Feb; 96(7):e1045-e1053. PubMed ID: 33472919
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.
Pešović J; Perić S; Brkušanin M; Brajušković G; Rakočević-Stojanović V; Savić-Pavićević D
Neurogenetics; 2017 Dec; 18(4):207-218. PubMed ID: 28942489
[TBL] [Abstract][Full Text] [Related]
15. Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Ballester-Lopez A; Koehorst E; Linares-Pardo I; Núñez-Manchón J; Almendrote M; Lucente G; Arbex A; Puente C; Lucia A; Monckton DG; Cumming SA; Pintos-Morell G; Coll-Cantí J; Ramos-Fransi A; Martínez-Piñeiro A; Nogales-Gadea G
Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33171734
[TBL] [Abstract][Full Text] [Related]
16. Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the
Lian M; Zhao M; Lee CG; Chong SS
Clin Chem; 2017 Jun; 63(6):1127-1140. PubMed ID: 28428361
[TBL] [Abstract][Full Text] [Related]
17. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
Santoro M; Masciullo M; Silvestri G; Novelli G; Botta A
Clin Genet; 2017 Oct; 92(4):355-364. PubMed ID: 27991661
[TBL] [Abstract][Full Text] [Related]
18. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A; Koehorst E; Almendrote M; Martínez-Piñeiro A; Lucente G; Linares-Pardo I; Núñez-Manchón J; Guanyabens N; Cano A; Lucia A; Overend G; Cumming SA; Monckton DG; Casadevall T; Isern I; Sánchez-Ojanguren J; Planas A; Rodríguez-Palmero A; Monlleó-Neila L; Pintos-Morell G; Ramos-Fransi A; Coll-Cantí J; Nogales-Gadea G
Hum Mutat; 2020 Feb; 41(2):420-431. PubMed ID: 31608518
[TBL] [Abstract][Full Text] [Related]
19. [Non-radioactive PCR southern method for analysis of CTG repeat in myotonic dystrophy].
Kozuka N; Tachi N; Ohya K; Uchida E; Kikuchi S; Sengoku Y
No To Hattatsu; 2003 Sep; 35(5):380-7. PubMed ID: 13677946
[TBL] [Abstract][Full Text] [Related]
20. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Kamsteeg EJ; Kress W; Catalli C; Hertz JM; Witsch-Baumgartner M; Buckley MF; van Engelen BG; Schwartz M; Scheffer H
Eur J Hum Genet; 2012 Dec; 20(12):1203-8. PubMed ID: 22643181
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
