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Year Number of Results
2010 2
2013 1
2014 2
2015 1
2016 5
2018 1
2021 3
2022 2
2023 1
2024 0

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16 results

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Page 1
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Cenni C, Mansard L, Blanchet C, Baux D, Vaché C, Baudoin C, Moclyn M, Faugère V, Mondain M, Jeziorski E, Roux AF, Willems M. Cenni C, et al. Among authors: baudoin c. Diagnostics (Basel). 2021 Sep 7;11(9):1636. doi: 10.3390/diagnostics11091636. Diagnostics (Basel). 2021. PMID: 34573976 Free PMC article.
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.
Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I. Jean-Charles A, et al. Among authors: baudoin c. Ophthalmology. 2016 Oct;123(10):2196-204. doi: 10.1016/j.ophtha.2016.06.028. Epub 2016 Jul 26. Ophthalmology. 2016. PMID: 27474146
Pattern dystrophy in a female carrier of RP2 mutation.
Misky D, Guillaumie T, Baudoin C, Bocquet B, Beltran M, Kaplan J, Dhaenens CM, Bonnefont JP, Meunier I, Hamel CP. Misky D, et al. Among authors: baudoin c. Ophthalmic Genet. 2016 Dec;37(4):453-455. doi: 10.3109/13816810.2015.1081253. Epub 2016 Feb 17. Ophthalmic Genet. 2016. PMID: 26885761 No abstract available.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: baudoin c. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A, Picot MC, Delcourt C, Defoort-Dhellemmes S, Marzouka NA, Lacroux A, Zanlonghi X, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Perez-Roustit S, Arsène S, Gissot V, Devin F, Arndt C, Wolff B, Mauget-Faÿsse M, Quaranta M, Mura T, Deplanque D, Oubraham H, Cohen SY, Gastaud P, Zambrowski O, Creuzot-Garcher C, Saïd SM, Sahel JA, Souied E, Milazzo S, Garavito RB, Kalatzis V, Puech B, Hamel C, Audo I, Meunier I. Douillard A, et al. Among authors: baudoin c. Sci Rep. 2018 May 1;8(1):6840. doi: 10.1038/s41598-018-25003-9. Sci Rep. 2018. PMID: 29717154 Free PMC article.
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: baudoin c. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.
16 results