Stéphanie Tomé - Search Results

Year	Number of Results
2009	1
2010	2
2011	3
2012	1
2013	3
2014	2
2017	1
2018	1
2019	1
2020	2
2021	2
2022	2
2023	1
2024	0

1

Tomé S. Tomé S. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:64. doi: 10.1051/medsci/2023141. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975773 French. No abstract available.

2

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.

Tomé S, Gourdon G. Tomé S, et al. Int J Mol Sci. 2020 Jan 10;21(2):457. doi: 10.3390/ijms21020457. Int J Mol Sci. 2020. PMID: 31936870 Free PMC article. Review.

3

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.

de Pontual L, Tomé S. de Pontual L, et al. Among authors: tome s. Int J Mol Sci. 2022 Mar 23;23(7):3477. doi: 10.3390/ijms23073477. Int J Mol Sci. 2022. PMID: 35408837 Free PMC article. Review.

4

Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions.

Tomé S, Gourdon G. Tomé S, et al. Methods Mol Biol. 2020;2056:11-23. doi: 10.1007/978-1-4939-9784-8_2. Methods Mol Biol. 2020. PMID: 31586339

5

Non-radioactive detection of trinucleotide repeat size variability.

Tomé S, Nicole A, Gomes-Pereira M, Gourdon G. Tomé S, et al. PLoS Curr. 2014 Mar 6;6:ecurrents.md.ad50113b899fa1352ce70c087eead706. doi: 10.1371/currents.md.ad50113b899fa1352ce70c087eead706. PLoS Curr. 2014. PMID: 24611127 Free PMC article.

6

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.

Tsai YC, de Pontual L, Heiner C, Stojkovic T, Furling D, Bassez G, Gourdon G, Tomé S. Tsai YC, et al. Among authors: tome s. J Mol Diagn. 2022 Nov;24(11):1143-1154. doi: 10.1016/j.jmoldx.2022.08.003. Epub 2022 Sep 7. J Mol Diagn. 2022. PMID: 36084803 Free article.

7

[Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1].

de Pontual L, Gourdon G, Tomé S. de Pontual L, et al. Among authors: tome s. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:6-10. doi: 10.1051/medsci/2021182. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878385 Free article. French.

8

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Mangin A, de Pontual L, Tsai YC, Monteil L, Nizon M, Boisseau P, Mercier S, Ziegle J, Harting J, Heiner C, Gourdon G, Tomé S. Mangin A, et al. Among authors: tome s. Int J Mol Sci. 2021 Mar 5;22(5):2616. doi: 10.3390/ijms22052616. Int J Mol Sci. 2021. PMID: 33807660 Free PMC article.

9

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: tome s. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.

10

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. Lo Scrudato M, et al. Among authors: tome s. Mol Ther. 2019 Aug 7;27(8):1372-1388. doi: 10.1016/j.ymthe.2019.05.021. Epub 2019 Jun 5. Mol Ther. 2019. PMID: 31253581 Free PMC article.

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