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Page 1
Prenatal diagnosis of mosaicism for 11q terminal deletion.
Valduga M, Cannard VL, Philippe C, Romana S, Miton A, Droulle P, Foliguet B, Lecompte T, Jonveaux P. Valduga M, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):475-81. doi: 10.1016/j.ejmg.2007.06.002. Epub 2007 Jul 17. Eur J Med Genet. 2007. PMID: 17761465
[Preimplantation genetic diagnosis (PGD): results from a Parisian center].
Feyereisen E, Romana S, Kerbrat V, Steffann J, Gigarel N, Lelorc'h M, Burlet P, Ray P, Hamamah S, Chevalier N, Fanchin R, Foix-L'hélias L, Tachdjian G, Munnich A, Frydman R, Vekemans M, Frydman N. Feyereisen E, et al. J Gynecol Obstet Biol Reprod (Paris). 2006 Jun;35(4):356-72. doi: 10.1016/s0368-2315(06)76408-0. J Gynecol Obstet Biol Reprod (Paris). 2006. PMID: 16940905 Free article. French.
TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: romana sp. Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18255367
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: romana sp. Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674648
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
Gérard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E. Gérard-Blanluet M, et al. Am J Med Genet A. 2004 Oct 15;130A(3):299-302. doi: 10.1002/ajmg.a.30314. Am J Med Genet A. 2004. PMID: 15378535
NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.
Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Andrieu J, Lai JL, Terre C, Rack K, Cornillet-Lefebvre P, Luquet I, Nadal N, Nguyen-Khac F, Perot C, Van den Akker J, Fert-Ferrer S, Cabrol C, Charrin C, Tigaud I, Poirel H, Vekemans M, Bernard OA, Berger R; Groupe Francophone de Cytogénétique Hématologique. Romana SP, et al. Leukemia. 2006 Apr;20(4):696-706. doi: 10.1038/sj.leu.2404130. Leukemia. 2006. PMID: 16467868
84 results