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Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy.
Richebourg S, Eclache V, Perot C, Portnoi MF, Van den Akker J, Terré C, Maareck O, Soenen V, Viguié F, Laï JL, Andrieux J, Corm S, Roche-Lestienne C; Fi-LMC Group. Richebourg S, et al. Among authors: portnoi mf. Cancer Genet Cytogenet. 2008 Apr 15;182(2):95-102. doi: 10.1016/j.cancergencyto.2008.01.005. Cancer Genet Cytogenet. 2008. PMID: 18406870
An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8.
Abdelmoula NB, Landman-Parker J, Tourniaire B, Josset P, Boccon-Gibod L, Peter M, Delattre O, Perot C, Taillemite JL, Portnoi MF, Van den Akker J. Abdelmoula NB, et al. Among authors: portnoi mf. Cancer Genet Cytogenet. 2005 Dec;163(2):186-8. doi: 10.1016/j.cancergencyto.2005.04.015. Cancer Genet Cytogenet. 2005. PMID: 16337867 No abstract available.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S. Vibert R, et al. Among authors: portnoi mf. Clin Genet. 2022 Mar;101(3):307-316. doi: 10.1111/cge.14096. Epub 2021 Dec 15. Clin Genet. 2022. PMID: 34866188
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, Chantot-Bastaraud S, Metay C, Andrieux J, Annerén G, Gijsbers AC, Druart L, Hyon C, Portnoi MF, Stattin EL, Vincent-Delorme C, Kant SG, Steinraths M, Marlin S, Giurgea I, Thuresson AC. Wentzel C, et al. Among authors: portnoi mf. Eur J Hum Genet. 2011 Sep;19(9):959-64. doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522184 Free PMC article.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. Among authors: portnoi mf. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172
69 results