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Page 1
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Chesneau B, Ivashchenko V, Habib C, Gaston V, Escudié F, Morel G, Capri Y, Vincent-Delorme C, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: chassaing n. Eur J Hum Genet. 2023 May;31(5):526-530. doi: 10.1038/s41431-022-01234-3. Epub 2022 Nov 21. Eur J Hum Genet. 2023. PMID: 36404347 Free PMC article.
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. Holt R, et al. Among authors: chassaing n. Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. Ophthalmic Genet. 2022. PMID: 36695497
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Kesim Y, Ceroni F, Damián A, Blanco-Kelly F, Ayuso C, Williamson K, Paquis-Flucklinger V, Bax DA, Plaisancié J, Rieubland C, Chamlal M, Cortón M, Chassaing N, Calvas P, Ragge NK. Kesim Y, et al. Among authors: chassaing n. Eur J Hum Genet. 2023 Oct;31(10):1196-1198. doi: 10.1038/s41431-023-01363-3. Eur J Hum Genet. 2023. PMID: 37106145 Free PMC article. No abstract available.
Artifacts and main lesions in fetal ocular histology.
Dubucs C, Chassaing N, Khung-Savatovsky S, Aziza J, Courtade-Saïdi M. Dubucs C, et al. Among authors: chassaing n. Morphologie. 2023 Jun;107(357):207-218. doi: 10.1016/j.morpho.2022.08.002. Epub 2022 Dec 5. Morphologie. 2023. PMID: 36470718
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Chassaing N, et al. J Invest Dermatol. 2004 Mar;122(3):608-13. doi: 10.1111/j.0022-202X.2004.22312.x. J Invest Dermatol. 2004. PMID: 15086542 Free article.
Pseudoxanthoma elasticum and nephrolithiasis.
Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N. Fabre B, et al. Among authors: chassaing n. J Eur Acad Dermatol Venereol. 2005 Mar;19(2):212-5. doi: 10.1111/j.1468-3083.2005.01007.x. J Eur Acad Dermatol Venereol. 2005. PMID: 15752294
140 results