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Page 1
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. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
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: roche lestienne c. Neurogenetics. 2020 Jan;21(1):67-72. doi: 10.1007/s10048-019-00599-w. Epub 2019 Dec 10. Neurogenetics. 2020. PMID: 31823155
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: roche lestienne 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
Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia.
Bidet A, Dulucq S, Smol T, Marceau-Renaut A, Morisset S, Coiteux V, Noël-Walter MP, Nicolini FE, Tigaud I, Luquet I, Struski S, Gaillard B, Penther D, Tondeur S, Nadal N, Hermet E, Véronèse L, Réa D, Gervais C, Theisen O, Terré C, Cony-Makhoul P, Lefebvre C, Gaillard JB, Radford I, Vervaeke AL, Barin C, Chapiro E, Nguyen-Khac F, Etienne G, Preudhomme C, Mahon FX, Roche-Lestienne C; Groupe Francophone de Cytogénétique Hématologique (GFCH) and the French Intergroup of Chronic Myeloid Leukemia (Fi-LMC). Bidet A, et al. Haematologica. 2019 Jun;104(6):1150-1155. doi: 10.3324/haematol.2018.208801. Epub 2018 Dec 20. Haematologica. 2019. PMID: 30573507 Free PMC article.
Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, Leprêtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group. Boudry-Labis E, et al. Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5. Am J Hematol. 2013. PMID: 23460398 Free article.
The lymphoid variant of hypereosinophilic syndrome: study of 21 patients with CD3-CD4+ aberrant T-cell phenotype.
Lefèvre G, Copin MC, Staumont-Sallé D, Avenel-Audran M, Aubert H, Taieb A, Salles G, Maisonneuve H, Ghomari K, Ackerman F, Legrand F, Baruchel A, Launay D, Terriou L, Leclech C, Khouatra C, Morati-Hafsaoui C, Labalette M, Borie R, Cotton F, Gouellec NL, Morschhauser F, Trauet J, Roche-Lestienne C, Capron M, Hatron PY, Prin L, Kahn JE; French Eosinophil Network. Lefèvre G, et al. Medicine (Baltimore). 2014 Oct;93(17):255-266. doi: 10.1097/MD.0000000000000088. Medicine (Baltimore). 2014. PMID: 25398061 Free PMC article.
RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance.
Roche-Lestienne C, Deluche L, Corm S, Tigaud I, Joha S, Philippe N, Geffroy S, Laï JL, Nicolini FE, Preudhomme C; Fi-LMC group. Roche-Lestienne C, et al. Blood. 2008 Apr 1;111(7):3735-41. doi: 10.1182/blood-2007-07-102533. Epub 2008 Jan 17. Blood. 2008. PMID: 18202228 Free article.
65 results