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105 results

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Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.
Caye A, Beldjord K, Mass-Malo K, Drunat S, Soulier J, Gandemer V, Baruchel A, Bertrand Y, Cavé H, Clappier E. Caye A, et al. Among authors: drunat s. Haematologica. 2013 Apr;98(4):597-601. doi: 10.3324/haematol.2012.073965. Epub 2012 Oct 12. Haematologica. 2013. PMID: 23065506 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Among authors: drunat s. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.
Pochon C, Oger E, Michel G, Dalle JH, Salmon A, Nelken B, Bertrand Y, Cavé H, Cayuela JM, Grardel N, Macintyre E, Margueritte G, Méchinaud F, Rohrlich P, Paillard C, Demeocq F, Schneider P, Plantaz D, Poirée M, Eliaou JF, Semana G, Drunat S, Jonveaux P, Bordigoni P, Gandemer V. Pochon C, et al. Among authors: drunat s. Br J Haematol. 2015 Apr;169(2):249-61. doi: 10.1111/bjh.13272. Epub 2014 Dec 19. Br J Haematol. 2015. PMID: 25522886 Free article.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: drunat s. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.
Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials.
Piette C, Suciu S, Clappier E, Bertrand Y, Drunat S, Girard S, Yakouben K, Plat G, Dastugue N, Mazingue F, Grardel N, van Roy N, Uyttebroeck A, Costa V, Minckes O, Sirvent N, Simon P, Lutz P, Ferster A, Pluchart C, Poirée M, Freycon C, Dresse MF, Millot F, Chantrain C, van der Werff Ten Bosch J, Norga K, Gilotay C, Rohrlich PS, Benoit Y, Cavé H. Piette C, et al. Among authors: drunat s. Leukemia. 2018 Jan;32(1):244-248. doi: 10.1038/leu.2017.289. Epub 2017 Sep 19. Leukemia. 2018. PMID: 29064485 Free article. No abstract available.
Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?
Cousin E, Oger E, Dalle JH, Bertrand Y, Pertuisel S, Pochon C, Galambrun C, Simon P, Bruno B, Paillard C, Schneider P, Rohrlich P, de La Tour RP, Freycon C, Eliaou JF, Semana G, Jonveaux P, Drunat S, Bordigoni P, Gandemer V. Cousin E, et al. Among authors: drunat s. Pediatr Hematol Oncol. 2020 Apr;37(3):259-268. doi: 10.1080/08880018.2020.1717697. Epub 2020 Feb 6. Pediatr Hematol Oncol. 2020. PMID: 32028812 Clinical Trial.
105 results