Kalatzis V - Search Results

1

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF. Vaché C, et al. Among authors: kalatzis v. Eur J Hum Genet. 2023 Jul;31(7):834-840. doi: 10.1038/s41431-023-01374-0. Epub 2023 May 12. Eur J Hum Genet. 2023. PMID: 37173411

2

Clinical Evaluation and Cone Alterations in Choroideremia.

Nabholz N, Lorenzini MC, Bocquet B, Lacroux A, Faugère V, Roux AF, Kalatzis V, Meunier I, Hamel CP. Nabholz N, et al. Among authors: kalatzis v. Ophthalmology. 2016 Aug;123(8):1830-1832. doi: 10.1016/j.ophtha.2016.02.025. Epub 2016 Mar 15. Ophthalmology. 2016. PMID: 26992839 No abstract available.

3

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V. Torriano S, et al. Among authors: kalatzis v. Hum Mol Genet. 2017 Sep 15;26(18):3573-3584. doi: 10.1093/hmg/ddx244. Hum Mol Genet. 2017. PMID: 28911202

4

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

Torriano S, Erkilic N, Baux D, Cereso N, De Luca V, Meunier I, Moosajee M, Roux AF, Hamel CP, Kalatzis V. Torriano S, et al. Among authors: kalatzis v. Sci Rep. 2018 May 29;8(1):8234. doi: 10.1038/s41598-018-26481-7. Sci Rep. 2018. PMID: 29844446 Free PMC article.

5

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: kalatzis v. Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30341801

6

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Sanjurjo-Soriano C, Erkilic N, Baux D, Mamaeva D, Hamel CP, Meunier I, Roux AF, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: kalatzis v. Mol Ther Methods Clin Dev. 2019 Nov 27;17:156-173. doi: 10.1016/j.omtm.2019.11.016. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2019. PMID: 31909088 Free PMC article.

7

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

Kalatzis V, Roux AF, Meunier I. Kalatzis V, et al. Mol Diagn Ther. 2021 Nov;25(6):661-675. doi: 10.1007/s40291-021-00558-y. Epub 2021 Oct 18. Mol Diagn Ther. 2021. PMID: 34661884

8

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: kalatzis v. Eur J Hum Genet. 2022 Jan;30(1):34-41. doi: 10.1038/s41431-021-01010-9. Epub 2021 Dec 3. Eur J Hum Genet. 2022. PMID: 34857896 Free PMC article.

9

Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I. Mairot K, et al. Among authors: kalatzis v. Int J Mol Sci. 2021 Nov 23;22(23):12642. doi: 10.3390/ijms222312642. Int J Mol Sci. 2021. PMID: 34884448 Free PMC article.

10

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: kalatzis v. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.

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