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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Khau Van Kien P, et al. Among authors: chassaing n. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free 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
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.
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: chassaing n. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: chassaing n. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
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
140 results