Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis
Marlin, S., Ducou Le Pointe, H., Le Merrer, M., Portnoi, M.F., Chantot, S., Jonard, L., Mantel‐Guiochon, A., Siffroi, J.P., Garabedian, E.N., Denoyelle, F.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Cord-Blood Transplantation from an Unrelated Donor in an Adult with Chronic Myelogenous Leukemia
Laporte, Jean-Philippe, Gorin, Norbert-Claude, Rubinstein, Pablo, Lesage, Sylvie, Portnoi, Marie-France, Barbu, Véronique, Lopez, Manuel, Douay, Luc, Najman, Albert
Published in The New England journal of medicine (18.07.1996)
Published in The New England journal of medicine (18.07.1996)
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Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients
Portnoï, M.F., Aboura, A., Tachdjian, G., Bouchard, P., Dewailly, D., Bourcigaux, N., Frydman, R., Reyss, Anne-Céline, Brisset, Sophie, Christin-Maitre, S.
Published in Human reproduction (Oxford) (01.09.2006)
Published in Human reproduction (Oxford) (01.09.2006)
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Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature
Tachdjian, G, Perreaux, F, Aboura, A, Chevalier, P, Portnoi, M-F, Esteva, B, Trioche, P, Labrune, P
Published in Clinical genetics (01.02.2002)
Published in Clinical genetics (01.02.2002)
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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
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Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
Portnoï, Marie-France, Bouayed-Abdelmoula, Nouha, Mirc, Myriam, Zemni, Ramzi, Castaing, Henry, Stephann, Julie, Ardalan, Azarnouche, Vialard, François, Nouchy, Marc, Daoud, Patrick, Chelly, Jamel, Taillemite, Jean-Louis
Published in Clinical genetics (01.08.2000)
Published in Clinical genetics (01.08.2000)
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Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q
Portnoï, Marie-France, Boutchneï, Serge, Bouscarat, Fabrice, Morlier, Geneviève, Nizard, Sonia, Dersarkissian, Hera, Crickx, Béatrice, Nouchy, Marc, Taillemite, Jean-Louis, Belaich, Stéphane
Published in Journal of medical genetics (01.03.1999)
Published in Journal of medical genetics (01.03.1999)
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Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
Beaujard, M.-P., Jouannic, J.-M., Bessières, B., Borie, C., Martin-Luis, I., Fallet-Bianco, C., Portnoï, M.-F.
Published in Prenatal diagnosis (01.06.2005)
Published in Prenatal diagnosis (01.06.2005)
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Unrelated mismatched cord blood transplantation in patients with hematological malignancies: a single institution experience
Laporte, J P, Lesage, S, Portnoï, M F, Landman, J, Rubinstein, P, Najman, A, Gorin, N C
Published in Bone marrow transplantation (Basingstoke) (01.07.1998)
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Published in Bone marrow transplantation (Basingstoke) (01.07.1998)
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Simultaneous regression of Philadelphia chromosome and multiple nonrecurrent clonal chromosomal abnormalities with imatinib mesylate in a patient autografted 22 years before for chronic myelogenous leukemia
Van Den Akker, J., Coppo, P., Portnoï, M. F., Barbu, V., Bories, D., Gorin, N. C.
Published in Leukemia & lymphoma (01.09.2007)
Published in Leukemia & lymphoma (01.09.2007)
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Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
Vialard, F, Ottolenghi, C, Gonzales, M, Choiset, A, Girard, S, Siffroi, J P, McElreavey, K, Vibert-Guigue, C, Sebaoun, M, Joyé, N, Portnoï, M F, Jaubert, F, Fellous, M
Published in Journal of medical genetics (01.07.2002)
Published in Journal of medical genetics (01.07.2002)
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Genes and premature ovarian failure
Christin-Maitre, Sophie, Vasseur, Claudine, Portnoı̈, Marie-France, Bouchard, Philippe
Published in Molecular and cellular endocrinology (25.10.1998)
Published in Molecular and cellular endocrinology (25.10.1998)
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Transient myeloproliferative disorder in a neonate without Down syndrome
Adam, M, Vincenot, A, Gouraud, F, Harvel, C, Perot, C, Portnoi, M F, Andre-Kerneis, E, Giraudier, S, Leverger, G, Favier, R
Published in Annales de biologie clinique (Paris) (01.09.2007)
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Published in Annales de biologie clinique (Paris) (01.09.2007)
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Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p)
Geneviève, D., Sznajer, Y., Raoul, M., Sanlaville, D., Verloes, A., Portnoï, M.F., Bauman, C.
Published in American journal of medical genetics. Part A (01.10.2003)
Published in American journal of medical genetics. Part A (01.10.2003)
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Prenatal diagnosis by FISH of a 22q11 deletion in two families
Portnoï, M F, Joyé, N, Gonzales, M, Demczuk, S, Fermont, L, Gaillard, G, Bercau, G, Morlier, G, Taillemite, J L
Published in Journal of medical genetics (01.02.1998)
Published in Journal of medical genetics (01.02.1998)
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A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23
Favier, R, Douay, L, Esteva, B, Portnoi, M F, Gaulard, P, Lecompte, T, Perot, C, Adam, M, Lecrubier, C, Van den Akker, J
Published in Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie (01.07.1993)
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Published in Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie (01.07.1993)
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A new case of a severe clinical phenotype of the cat-eye syndrome
Denavit, T Martin, Malan, V, Grillon, C, Sanlaville, D, Ardalan, A, Jacquemont, M L, Burglen, L, Taillemite, J L, Portnoi, M F
Published in Genetic counseling (2004)
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Published in Genetic counseling (2004)
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
Schluth-Bolard, C., Diguet, F., Rollat-Farnier, P. A., Amiel, J., Belaud-Rotureau, M. A., Benzacken, B., Callier, P., Chatron, N., Collignon, P., Demeer, Bénédicte, Doco-Fenzy, M., Faivre, L., Gilbert-Dussardier, B., Guerrot, A. M., Jaillard, S., Keren, B., Kremer, V., Lacombe, D., Lebbar, A., Le Caignec, C., Lespinasse, J., Malan, V., Mathieu-Dramard, M., Missirian, C., Moncla, A., Odent, S., Pebrel-Richard, C., Paquis, V., Portnoi, M. F., Puechberty, J., Rooryck-Thambo, C., Satre, V., Tabet, A. C., Touraine, R., Toutain, A., Vekemans, M., Verloes, A., Edery, P., Sanlaville, D.
Published in European journal of human genetics : EJHG (2018)
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Published in European journal of human genetics : EJHG (2018)
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French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
Luquet, I, Mugneret, F, Athis, P.D, Nadal, N, Favre, B, Abel, C, Chelloug, N, Lespinasse, J, Portnoi, M.F, Joyé, N, Dupont, J.M, Lebbar, A, Bresson, J.L, Fellmann, F, Siffroi, J.P, Chantot-Bastaraud, S, Chiesa, J, Amblard, F, Devillard, F, Jeandidier, E, Boceno, M, Rival, J.M, Bellec, V, Lallaoui, H, Delobel, B, Croquette, M.F, Benzacken, B
Published in Annales de génétique (01.04.2002)
Published in Annales de génétique (01.04.2002)
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Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers
Rouen, Alexandre, Balet, Richard, Dorna, Maud, Hyon, Capucine, Pollet-Villard, Xavier, Chantot-Bastaraud, Sandra, Joyé, Nicole, Portnoï, Marie-France, Cassuto, Nino Guy, Siffroi, Jean-Pierre
Published in Human reproduction (Oxford) (01.07.2013)
Published in Human reproduction (Oxford) (01.07.2013)
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