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117 results

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Page 1
Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.
Rossignol J, Georgin-Lavialle S, Canioni D, Beganovic O, Brouzes C, Fain O, Heiblig M, Gourguechon C, Guilpain P, Bulai-Livideanu C, Barete S, Agopian J, Brenet F, Dubreuil P, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Chatain C, Damaj G, Ballul T, Greco C, Polivka L, Frenzel L, Meni C, Bouktit H, Benabou D, Devin C, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Neel A, Ranta D, Jaussaud R, Jo Molina T, Bruneau J, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Dimicoli-Salazar S, Torregrosa-Diaz JM, Duval A, Garcelon N, Lespinasse J, Soria A, Chantran Y, Arock M, Bodemer C, Lortholary O, Asnafi V, Hermine O, Lhermitte L. Rossignol J, et al. Among authors: lespinasse j. Haematologica. 2024 Aug 29. doi: 10.3324/haematol.2024.285740. Online ahead of print. Haematologica. 2024. PMID: 39219498 Free article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: lespinasse j. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
Comparison of prognostic scores according to WHO classification in 170 patients with advanced mastocytosis and C-finding treated with midostaurin.
Heiblig M, Gourguechon C, Guilpain P, Bulai-Livideanu C, Barete S, Chantran Y, Agopian J, Brenet F, Dubreuil P, Lespinasse J, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Chatain C, Damaj G, Ballul T, Greco C, Polivka L, Frenzel L, Meni C, Bouktit H, Benabou D, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Neel A, Ranta D, Jaussaud R, Molina TJ, Bruneau J, Villarese P, Lhermitte L, Maouche-Chrétien L, Temple M, Kosmider O, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Dimicoli-Salazar S, Torregrosa-Diaz JM, Wemeau M, Soria A, Arock M, Bodemer C, Lortholary O, Hermine O, Rossignol J. Heiblig M, et al. Among authors: lespinasse j. Am J Hematol. 2024 Nov;99(11):2127-2139. doi: 10.1002/ajh.27478. Epub 2024 Sep 17. Am J Hematol. 2024. PMID: 39287048
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, Bouquillon S, Brischoux-Boucher E, Callier P, Coutton C, Denizet AA, Dieterich K, Kuentz P, Lespinasse J, Mazel B, Morin G, Amram F, Pennamen P, Rio M, Piard J, Putoux A, Rama M, Roze-Guillaumey V, Schluth-Bolard C, Till M, Trouvé C, Vieville G, Rooryck C, Sanlaville D, Chatron N. Billes A, et al. Among authors: lespinasse j. Clin Genet. 2024 Sep;106(3):234-246. doi: 10.1111/cge.14525. Epub 2024 Apr 1. Clin Genet. 2024. PMID: 38561231
Breast cancer risk in NF1-deleted patients.
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, Wolkenstein P, Vincent-Salomon A, Vidaud D, Pasmant E. Pacot L, et al. Among authors: lespinasse j. J Med Genet. 2024 Apr 19;61(5):428-429. doi: 10.1136/jmg-2023-109682. J Med Genet. 2024. PMID: 38154814 No abstract available.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: lespinasse j. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: lespinasse j. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
Malignant hypercalcemia revealing a diffuse large B-cell lymphoma in a patient with a previous diagnosis of chronic myelomonocytic leukemia: An uncommon hematological coexistence.
Diallo AO, Marcou A, Lespinasse J, Cordoba-Sosa Z, Andrès E, Docquier L, Lorenzo-Villalba N. Diallo AO, et al. Among authors: lespinasse j. Clin Case Rep. 2023 Sep 3;11(9):e7885. doi: 10.1002/ccr3.7885. eCollection 2023 Sep. Clin Case Rep. 2023. PMID: 37670819 Free PMC article.
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