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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: le goff c. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: le merrer m. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L. Arnaud P, et al. Among authors: le goff c. Hum Genet. 2020 Apr;139(4):461-472. doi: 10.1007/s00439-019-02102-9. Epub 2020 Jan 24. Hum Genet. 2020. PMID: 31980905 Clinical Trial.
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Arnaud P, Morel H, Milleron O, Gouya L, Francannet C, Da Costa A, Le Goff C, Jondeau G, Boileau C, Hanna N. Arnaud P, et al. Among authors: le goff c. Genet Med. 2021 May;23(5):865-871. doi: 10.1038/s41436-020-01078-6. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495528 Free PMC article.
ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms.
Mougin Z, Huguet Herrero J, Boileau C, Le Goff C. Mougin Z, et al. Among authors: le goff c. Biomolecules. 2021 Dec 22;12(1):12. doi: 10.3390/biom12010012. Biomolecules. 2021. PMID: 35053160 Free PMC article. Review.
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Delhon L, Mougin Z, Jonquet J, Bibimbou A, Dubail J, Bou-Chaaya C, Goudin N, Le Goff W, Boileau C, Cormier-Daire V, Le Goff C. Delhon L, et al. Among authors: le goff w, le goff c. Hum Mol Genet. 2022 Nov 10;31(22):3777-3788. doi: 10.1093/hmg/ddac131. Hum Mol Genet. 2022. PMID: 35660865
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. Among authors: le goff c, le merrer m. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
192 results