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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: maniere mc. Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11. Mol Syndromol. 2014. PMID: 25565929 Free PMC article.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: maniere mc. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10. Hum Mol Genet. 2015. PMID: 25669657 Free PMC article.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. Prasad MK, et al. Among authors: maniere mc. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26. J Med Genet. 2016. PMID: 26502894 Free PMC article.
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo JC, Ralison G, Andriamasinoro RO, Ramanampamaharana RH, Randrianazary SE, Richard B, Gorry P, Manière MC, Rakoto Alson S, Dollfus H. Bloch-Zupan A, et al. Among authors: maniere mc. Front Physiol. 2016 Mar 2;7:70. doi: 10.3389/fphys.2016.00070. eCollection 2016. Front Physiol. 2016. PMID: 26973538 Free PMC article.
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo JC, Ralison G, Andriamasinoro RO, Ramanampamaharana RH, Randrianazary SE, Ralimanana LH, Richard B, Gorry P, Manière MC, Rasoamananjara JA, Rakoto Alson S, Dollfus H. Bloch-Zupan A, et al. Among authors: maniere mc. Front Physiol. 2016 Jul 26;7:304. doi: 10.3389/fphys.2016.00304. eCollection 2016. Front Physiol. 2016. PMID: 27471476 Free PMC article.
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Gasse B, Prasad M, Delgado S, Huckert M, Kawczynski M, Garret-Bernardin A, Lopez-Cazaux S, Bailleul-Forestier I, Manière MC, Stoetzel C, Bloch-Zupan A, Sire JY. Gasse B, et al. Among authors: maniere mc. Front Physiol. 2017 Jun 14;8:398. doi: 10.3389/fphys.2017.00398. eCollection 2017. Front Physiol. 2017. PMID: 28659819 Free PMC article.
44 results