These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
134 related articles for article (PubMed ID: 38709060)
1. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. Damon J; Chase C; Higashimoto T Am J Med Genet A; 2024 Sep; 194(9):e63650. PubMed ID: 38709060 [TBL] [Abstract][Full Text] [Related]
2. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Seifert BA; Reddi HV; Kang BE; Bean LJH; Shealy A; Rose NC; Genet Med; 2024 Aug; 26(8):101145. PubMed ID: 38836869 [TBL] [Abstract][Full Text] [Related]
3. Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Winkler NS; Milone M; Martinez-Thompson JM; Raja H; Aleff RA; Patel SV; Fautsch MP; Wieben ED; Baratz KH Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3053-3057. PubMed ID: 30025114 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Molecular Diagnosis of Myotonic Dystrophy. Chakraborty S; Vatta M; Bachinski LL; Krahe R; Dlouhy S; Bai S Curr Protoc Hum Genet; 2016 Oct; 91():9.29.1-9.29.19. PubMed ID: 27727437 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. Murillo-Melo NM; Márquez-Quiróz LC; Gómez R; Orozco L; Mendoza-Caamal E; Tapia-Guerrero YS; Camacho-Mejorado R; Cortés H; López-Reyes A; Santana C; Noris G; Hernández-Hernández O; Cisneros B; Magaña JJ Neuromuscul Disord; 2017 Dec; 27(12):1106-1114. PubMed ID: 29054426 [TBL] [Abstract][Full Text] [Related]
10. CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis. Puy V; Mayeur A; Levy A; Hesters L; Raad J; Monnot S; Steffann J; Frydman N J Clin Endocrinol Metab; 2020 Mar; 105(3):. PubMed ID: 31996899 [TBL] [Abstract][Full Text] [Related]
11. Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. Leferink M; Wong DPW; Cai S; Yeo M; Ho J; Lian M; Kamsteeg EJ; Chong SS; Haer-Wigman L; Guan M Sci Rep; 2019 Jun; 9(1):8280. PubMed ID: 31164682 [TBL] [Abstract][Full Text] [Related]
13. Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A). Chahine M; Jauvin D; Pierre M; Puymirat J; Boutjdir M Stem Cell Res; 2023 Sep; 71():103148. PubMed ID: 37352653 [TBL] [Abstract][Full Text] [Related]
14. Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. Chong-Nguyen C; Wahbi K; Algalarrondo V; Bécane HM; Radvanyi-Hoffman H; Arnaud P; Furling D; Lazarus A; Bassez G; Béhin A; Fayssoil A; Laforêt P; Stojkovic T; Eymard B; Duboc D Circ Cardiovasc Genet; 2017 Jun; 10(3):. PubMed ID: 28611030 [TBL] [Abstract][Full Text] [Related]
15. Molecular Therapies for Myotonic Dystrophy Type 1: From Small Drugs to Gene Editing. Izzo M; Battistini J; Provenzano C; Martelli F; Cardinali B; Falcone G Int J Mol Sci; 2022 Apr; 23(9):. PubMed ID: 35563013 [TBL] [Abstract][Full Text] [Related]
16. [Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion]. Spranger M; Janssen B; Rating D; Spranger S Nervenarzt; 1999 Feb; 70(2):131-5. PubMed ID: 10098148 [TBL] [Abstract][Full Text] [Related]
17. Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder. Kumar A; Agarwal S; Agarwal D; Phadke SR Gene; 2013 Jun; 522(2):226-30. PubMed ID: 23570879 [TBL] [Abstract][Full Text] [Related]
18. Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. Lo Scrudato M; Poulard K; Sourd C; Tomé S; Klein AF; Corre G; Huguet A; Furling D; Gourdon G; Buj-Bello A Mol Ther; 2019 Aug; 27(8):1372-1388. PubMed ID: 31253581 [TBL] [Abstract][Full Text] [Related]
19. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of Hildonen M; Knak KL; Dunø M; Vissing J; Tümer Z Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32823742 [TBL] [Abstract][Full Text] [Related]
20. Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9. Wang Y; Hao L; Wang H; Santostefano K; Thapa A; Cleary J; Li H; Guo X; Terada N; Ashizawa T; Xia G Mol Ther; 2018 Nov; 26(11):2617-2630. PubMed ID: 30274788 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]