Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2015 1
2016 1
2017 1
2019 1
2021 2
2022 3
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D. Daruich A, et al. Among authors: des roziers cb. Prog Retin Eye Res. 2023 Jul;95:101133. doi: 10.1016/j.preteyeres.2022.101133. Epub 2022 Oct 22. Prog Retin Eye Res. 2023. PMID: 36280537 Free article. Review.
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
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.
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.