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120 results

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Page 1
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F. Faivre L, et al. Among authors: baudoin c. Eur J Med Genet. 2010 Jul-Aug;53(4):208-12. doi: 10.1016/j.ejmg.2010.05.002. Epub 2010 May 15. Eur J Med Genet. 2010. PMID: 20478419
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.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP. Manes G, et al. Among authors: baudoin c. Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5. Am J Ophthalmol. 2015. PMID: 25447119 Free article.
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF. Baux D, et al. Among authors: baudoin c. Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9. Sci Rep. 2017. PMID: 29196752 Free PMC article.
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.
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: baudoin c. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP. Meunier I, et al. Among authors: baudoin c. Ophthalmology. 2014 Dec;121(12):2406-14. doi: 10.1016/j.ophtha.2014.06.028. Epub 2014 Jul 29. Ophthalmology. 2014. PMID: 25085631
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quilès M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Péquignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP. Meunier I, et al. Among authors: baudoin c. Hum Mol Genet. 2016 Mar 1;25(5):916-26. doi: 10.1093/hmg/ddv624. Epub 2016 Jan 6. Hum Mol Genet. 2016. PMID: 26744326
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.
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
Douillard A, Picot MC, Delcourt C, Lacroux A, Zanlonghi X, Puech B, Defoort-Dhelemmes S, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Al-Dain Marzouka N, 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, Zambrowsky O, Creuzot-Garcher C, Mohand Saïd S, Blanco Garavito R, Souied E, Sahel JA, Audo I, Hamel C, Meunier I. Douillard A, et al. Among authors: baudoin c. Ophthalmology. 2016 Sep;123(9):1865-73. doi: 10.1016/j.ophtha.2016.05.018. Epub 2016 Jun 16. Ophthalmology. 2016. PMID: 27320518
120 results