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Page 1
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Erjavec E, Angée C, Hadjadj D, Passet B, David P, Kostic C, Dodé E, Zanlonghi X, Cagnard N, Nedelec B, Crippa SV, Bole-Feysot C, Zarhrate M, Creuzet S, Castille J, Vilotte JL, Calvas P, Plaisancié J, Chassaing N, Kaplan J, Rozet JM, Fares Taie L. Erjavec E, et al. Among authors: chassaing n. Am J Hum Genet. 2024 Oct 3;111(10):2265-2282. doi: 10.1016/j.ajhg.2024.08.019. Epub 2024 Sep 17. Am J Hum Genet. 2024. PMID: 39293448
The authors reply.
Faguer S, Chauveau D, Decramer S, Chassaing N. Faguer S, et al. Among authors: chassaing n. Kidney Int. 2015 Jun;87(6):1259. doi: 10.1038/ki.2015.48. Kidney Int. 2015. PMID: 26024032 Free article. No abstract available.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. Rivière JB, et al. Among authors: chassaing n. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Nat Genet. 2012. PMID: 22366783 Free PMC article.
Acquired pseudoxanthoma elasticum presenting after liver transplantation.
Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Bercovitch L, et al. Among authors: chassaing n. J Am Acad Dermatol. 2011 May;64(5):873-8. doi: 10.1016/j.jaad.2010.03.030. Epub 2011 Mar 12. J Am Acad Dermatol. 2011. PMID: 21397982 Free PMC article.
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Among authors: chassaing n. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
Manifestations of pseudoxanthoma elasticum in childhood.
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Naouri M, et al. Among authors: chassaing n. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9. Br J Dermatol. 2009. PMID: 19519828
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. Thomas S, et al. Among authors: chassaing n. Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470. Hum Mutat. 2014. PMID: 24166846 Free PMC article.
144 results