Search Results - "Burin-des-Roziers C"

Sex-based differences in retinal detachment in a genotyped Stickler syndrome cohort: implications for preventive management.

Authors: Borella Y Constant A Rothschild PR et al.

Source: The British journal of ophthalmology [Br J Ophthalmol] 2026 May 04. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Authors: Quinodoz M Rodenburg K Cvackova Z et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. Date of Electronic Publication: 2026 Jan 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

Authors: Constant A Daruich A Bernabei F et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2026 Jan; Vol. 281, pp. 17-24. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.

Authors: Pacot L Pelletier V Chansavang A et al.

Source: Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 1-9. Date of Electronic Publication: 2022 Aug 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Authors: Huby T Le Guillou E Burin des Roziers C et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Mar 24; Vol. 107 (4), pp. e1367-e1373.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.

Authors: Xerri O Bernabei F Philippakis E et al.

Source: BMC ophthalmology [BMC Ophthalmol] 2021 Jan 04; Vol. 21 (1), pp. 2. Date of Electronic Publication: 2021 Jan 04.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

One NF1 Mutation may Conceal Another.

Authors: Pacot L Burin des Roziers C Laurendeau I et al.

Source: Genes [Genes (Basel)] 2019 Aug 22; Vol. 10 (9). Date of Electronic Publication: 2019 Aug 22.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Authors: Burin-des-Roziers C Rothschild PR Layet V et al.

Source: Human mutation [Hum Mutat] 2017 Jan; Vol. 38 (1), pp. 43-47. Date of Electronic Publication: 2016 Nov 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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.

Authors: Nandadasa S Burin des Roziers C Koch C et al.

Source: Matrix biology plus [Matrix Biol Plus] 2021 May 14; Vol. 10, pp. 100064. Date of Electronic Publication: 2021 May 14 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101775320 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-0285 (Electronic) Linking ISSN: 25900285 NLM ISO Abbreviation: Matrix Biol Plus Subsets: PubMed not MEDLINE

Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

Authors: Rothschild PR Burin-des-Roziers C Audo I et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2015 Nov; Vol. 160 (5), pp. 1065-1072.e1. Date of Electronic Publication: 2015 Aug 15.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes.

Authors: Luscan A Just PA Briand A et al.

Source: The British journal of ophthalmology [Br J Ophthalmol] 2015 Apr; Vol. 99 (4), pp. 437-9. Date of Electronic Publication: 2014 Oct 31.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

A family with Wagner syndrome with uveitis and a new versican mutation.

Authors: Rothschild PR Brézin AP Nedelec B et al.

Source: Molecular vision [Mol Vis] 2013 Sep 26; Vol. 19, pp. 2040-9. Date of Electronic Publication: 2013 Sep 26 (Print Publication: 2013).

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE