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Page 1
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
Caumes R, Smol T, Thuillier C, Balerdi M, Lestienne-Roche C, Manouvrier-Hanu S, Ghoumid J. Caumes R, et al. Among authors: thuillier c. Eur J Med Genet. 2020 Dec;63(12):104072. doi: 10.1016/j.ejmg.2020.104072. Epub 2020 Sep 25. Eur J Med Genet. 2020. PMID: 32987185 Review.
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: thuillier c. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049610
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J. Smol T, et al. Among authors: thuillier c. Neurogenetics. 2020 Jan;21(1):67-72. doi: 10.1007/s10048-019-00599-w. Epub 2019 Dec 10. Neurogenetics. 2020. PMID: 31823155
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Tran Mau-Them F, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C. Carmignac V, et al. Among authors: thuillier c. Clin Genet. 2020 Jul;98(1):43-55. doi: 10.1111/cge.13755. Epub 2020 May 29. Clin Genet. 2020. PMID: 32279304
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: thuillier c. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: thuillier c. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Galectin-3 modulates epithelial cell adaptation to stress at the ER-mitochondria interface.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, Bongiovanni A, Gaston C, de Beco S, Barois N, van Seuningen I, Durand E, Bonnefond A, Vienne JC, Vamecq J, Figeac M, Vincent A, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: thuillier c. Cell Death Dis. 2020 May 12;11(5):360. doi: 10.1038/s41419-020-2556-3. Cell Death Dis. 2020. PMID: 32398681 Free PMC article.
Récidive biochimique après traitement curatif d'un adénocarcinome prostatique localisé : intérêt du PET-choline dans l'évaluation de la récidive locale.
Poncet D, Arnoux V, Descotes J, Rambeaud J, Verry C, Bolla M, Terrier N, Boillot B, Thuillier C, Fiard G, Long J. Poncet D, et al. Among authors: thuillier c. Prog Urol. 2014 Nov;24(13):819-20. doi: 10.1016/j.purol.2014.08.080. Epub 2014 Oct 30. Prog Urol. 2014. PMID: 26461606 French. No abstract available.
Prise en charge des pseudo-anévrismes rénaux post-traumatiques.
Guyot R, Arnoux V, Fiard G, Terrier N, Thuillier C, Skowron O, Rambeaud J, Descotes J, Long J. Guyot R, et al. Among authors: thuillier c. Prog Urol. 2014 Nov;24(13):826-7. doi: 10.1016/j.purol.2014.08.098. Epub 2014 Oct 30. Prog Urol. 2014. PMID: 26461623 French. No abstract available.
60 results