Tingaud-Sequeira A - Search Results

1

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

Trimouille A, Tingaud-Sequeira A, Pennamen P, André G, Bouron J, Boucher C, Fergelot P, Lacombe D, Arveiler B, Rooryck C. Trimouille A, et al. Among authors: tingaud sequeira a. Eur J Hum Genet. 2019 Mar;27(3):384-388. doi: 10.1038/s41431-018-0290-4. Epub 2018 Oct 29. Eur J Hum Genet. 2019. PMID: 30374058 Free PMC article.

2

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C. Lopez E, et al. J Med Genet. 2016 Nov;53(11):752-760. doi: 10.1136/jmedgenet-2016-103774. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358179

3

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E, Möller C, Andreasson S, Rendtorff ND, Tranebjærg L, Koenig M, Lacombe D, Goizet C, Babin PJ. Tingaud-Sequeira A, et al. Neurobiol Dis. 2017 Feb;98:36-51. doi: 10.1016/j.nbd.2016.11.008. Epub 2016 Nov 23. Neurobiol Dis. 2017. PMID: 27890673

4

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez ABA, Arveiler B, Lacombe D, Rooryck C. Berenguer M, et al. Eur J Hum Genet. 2017 Sep;25(9):1083-1086. doi: 10.1038/ejhg.2017.101. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612832 Free PMC article.

5

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: tingaud sequeira a. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.

6

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshøj T, Kreiborg S, Buciek Hove H, Rooryck C. Trimouille A, et al. Among authors: tingaud sequeira a. Clin Genet. 2020 Oct;98(4):384-389. doi: 10.1111/cge.13811. Clin Genet. 2020. PMID: 32639022

7

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Pennamen P, Tingaud-Sequeira A, Michaud V, Morice-Picard F, Plaisant C, Vincent-Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B. Pennamen P, et al. Among authors: tingaud sequeira a. Pigment Cell Melanoma Res. 2021 Jan;34(1):132-135. doi: 10.1111/pcmr.12915. Epub 2020 Aug 3. Pigment Cell Melanoma Res. 2021. PMID: 32687635

8

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

Tingaud-Sequeira A, Trimouille A, Marlin S, Lopez E, Berenguer M, Gherbi S, Arveiler B, Lacombe D, Rooryck C. Tingaud-Sequeira A, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1375. doi: 10.1002/mgg3.1375. Epub 2020 Aug 1. Mol Genet Genomic Med. 2020. PMID: 32738032 Free PMC article.

9

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Pennamen P, et al. Among authors: tingaud sequeira a. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100333 Free article.

10

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C. Tingaud-Sequeira A, et al. Hum Genet. 2021 Jun;140(6):933-944. doi: 10.1007/s00439-021-02255-6. Epub 2021 Jan 21. Hum Genet. 2021. PMID: 33475861

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