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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.
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
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.
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.
30 results