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One NF1 Mutation may Conceal Another.
Pacot L, Burin des Roziers C, Laurendeau I, Briand-Suleau A, Coustier A, Mayard T, Tlemsani C, Faivre L, Thomas Q, Rodriguez D, Blesson S, Dollfus H, Muller YG, Parfait B, Vidaud M, Gilbert-Dussardier B, Yardin C, Dauriat B, Derancourt C, Vidaud D, Pasmant E. Pacot L, et al. Among authors: burin des roziers c. Genes (Basel). 2019 Aug 22;10(9):633. doi: 10.3390/genes10090633. Genes (Basel). 2019. PMID: 31443423 Free PMC article.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, Burin des Roziers C, Coustier A, Maillard T, Vaucouleur N, Orhant L, Barbance C, Lermine A, Hamzaoui N, Hadjadj D, Laurendeau I, El Khattabi L, Nectoux J, Vidaud M, Parfait B, Dollfus H, Pasmant E, Vidaud D. Pacot L, et al. Among authors: burin des roziers c. Hum Genet. 2023 Jan;142(1):1-9. doi: 10.1007/s00439-022-02476-3. Epub 2022 Aug 9. Hum Genet. 2023. PMID: 35941319
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Huby T, Le Guillou E, Burin des Roziers C, Pacot L, Briand-Suleau A, Chansavang A, Toussaint A, Duchossoy V, Vaucouleur N, Benoit V, Lodé L, Molac C, North MO, Grotto S, Tsatsaris V, Jouinot A, Cochand-Priollet B, Paepegaey AC, Nectoux J, Groussin L, Pasmant E. Huby T, et al. Among authors: burin des roziers c. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894. J Clin Endocrinol Metab. 2022. PMID: 34897474
A family with Wagner syndrome with uveitis and a new versican mutation.
Rothschild PR, Brézin AP, Nedelec B, Burin des Roziers C, Ghiotti T, Orhant L, Boimard M, Valleix S. Rothschild PR, et al. Among authors: burin des roziers c. Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013. Mol Vis. 2013. PMID: 24174867 Free PMC article.
Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.
Xerri O, Bernabei F, Philippakis E, Burin-Des-Roziers C, Barale PO, Laplace O, Monin C, Bremond-Gignac D, Guerrier G, Valleix S, Brezin A, Rothschild PR. Xerri O, et al. Among authors: burin des roziers c. BMC Ophthalmol. 2021 Jan 4;21(1):2. doi: 10.1186/s12886-020-01777-3. BMC Ophthalmol. 2021. PMID: 33397304 Free PMC article.
A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression.
Nandadasa S, Burin des Roziers C, Koch C, Tran-Lundmark K, Dours-Zimmermann MT, Zimmermann DR, Valleix S, Apte SS. Nandadasa S, et al. Among authors: burin des roziers c. Matrix Biol Plus. 2021 May 14;10:100064. doi: 10.1016/j.mbplus.2021.100064. eCollection 2021 Jun. Matrix Biol Plus. 2021. PMID: 34195596 Free PMC article.