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Discordant sex in monozygotic XXY/XX twins: a case report

Autor: Anouck Schneider, Pierre Boulot, O. Prodhomme, S. Taviaux, Jacques Puechberty, Isabelle Touitou, Pierre Meyer, Claire Jeandel, Gaelle Tachon, Franck Pellestor, David Geneviève, Vincent Gatinois, Geneviève Lefort

Publikováno v: Human Reproduction
Human Reproduction, 2014, 29 (12), pp.2814-2820. ⟨10.1093/humrep/deu275⟩
Human Reproduction, Oxford University Press (OUP), 2014, 29 (12), pp.2814-2820. ⟨10.1093/humrep/deu275⟩

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57c446b036d6363ae4d4e0ac0f67823
https://doi.org/10.1093/humrep/deu275

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5-HT4 Receptors: Cloning and Expression of New Splice Variants

Autor: Joël Bockaert, Aline Dumuis, S. Taviaux, Sylvie Claeysen, Michèle Sebben, P. Faye

Publikováno v: Annals of the New York Academy of Sciences
Annals of the New York Academy of Sciences, Wiley, 1998, 861 (1), pp.49-56. ⟨10.1111/j.1749-6632.1998.tb10172.x⟩

International audience; On the basis of differences in the potencies and intrinsic activity of 5-HT4 receptor agonists in different biological models it has been suggested that there is heterogeneity among 5-HT4 receptors. Here, we report the molecul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::039c33c3eecf00b347d0bb9bed225d18
https://doi.org/10.1111/j.1749-6632.1998.tb10172.x

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Leucémie aiguë lymphoblastique néonatale: une affection rare à révélation immédiate en salle de naissance

Autor: S. Taviaux, M. Dupont, Gilles Cambonie, Jean-Charles Picaud, M. Badr, A. Jacquot, D. Guyot, F. Montoya, F. Bernard, O. Plan

Publikováno v: Archives de Pédiatrie. 14:887-889

Resume La leucemie aigue est une maladie exceptionnelle en periode neonatale et son pronostic est severe, bien moins bon que chez les enfants plus âges. Nous rapportons 1 cas de leucemie aigue lymphoblastique neonatale qui s'est manifeste par un syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78f8fa241fb00fbe5c947cdcea845865
https://doi.org/10.1016/j.arcped.2007.03.016

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Contents, Vol. 76, 1997

Autor: D. Birnbaum, N.Z. Parsa, C. Flores, A.G. Shilov, B. Sèle, U. Claussen, M. Gastaldi, J. Zimmer, B. Andréo, A.F. Markham, D.T. Bonthron, H.S. Tenenhouse, H. Lovec, O.I. Olopade, R. Hernandez, D. Adrian, S. Rousseaux, A. Frady, N.B. Rubtsov, M. Goldfarb, J.M. Trent, K.J. Gratton, B.G. Beatty, P. Eydoux, N. Tommerup, M. Schmid, D.R. Lohmann, J. Benet, S.K. Bohlander, N.V. Rubtsova, A. Girardet, P. Mühlig, T.P. Moynihan, D. Stephan, R. Hliscs, M.H. Dreyling, Y. Zhu, J. Torresani, J. Navarro, J.P. Grillasca, X.-Y. Zhang, N.T. Bech-Hansen, W. Jiang, M. Dean, H.H. Quek, G.J. Pappanicolaou, B. Wainwright, J.P. Charlieu, H. Hartung, S.M. Zakian, M.A. Peters, J.L. Coate, M.B. Qumsiyeh, C. Wicking, P. Bray-Ward, S. Taviaux, J. Wirth, G. Valle, M. Ehrlich, T. Muraro, R.A. Gravel, N.J. Lench, F. Yang, R. Zimbello, J.A. Peppers, E. Chevret, I. Garkavtsev, B. Horsthemke, F. Coulier, C. Pressman, X.X. Zhang, T.B. Nesterova, A-S. Verdier, A.A. Isaenko, S. Mori, S. Levanat, K. Riabowol, A. Sahota, G. Lefort, D. Demetrick, M-G. Matté, P.C.M. O’Brien, E.H. Hoffman, J.L VandeBerg, V.T.K. Chow, J. Cozzi, R. Planells, J. Wienberg, I. Parra, H. Satoh, K. Sperling, K. Buiting, K.L. Stoddart, A. León-Del-Rio, J. Weissenbach, A.E. Bale, M.R. Gailani, H.-J. Lüdecke, J.A. Tischfield, N.V. Vorobieva, P.S. Meltzer, G. Scherer, M-G. Mattéi, B. Windle, E.J. Taparowsky, A. Chidambaram, G. Lanfranch, H. Leffers, J.P. Leek, A.S. Hewson, R. Toftgard, E. Back, N. Tiso, M.L. Kennedy, G.A. Danieli, M. Varela, M.R. Martorell, T. Wagner, R. Anwar, P.K. Gupta, C. Shao, F. Pellestor, K.M. Boycott, E.H. McConkey, C. Márquez, J.C. Myers, B.J. Moore, I. Nanda, M. Monteil, J. Egozcue, N.M. Matveeva, P.K. Kennedy, M.A. Ferguson-Smith, B. Roland, R. Pelletier

Publikováno v: Cytogenetic and Genome Research. 76:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::36ba6962db72245588b61c273f0c1732
https://doi.org/10.1159/000134527

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Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia

Publikováno v: Leukemia, 23, 1, pp. 125-33
Leukemia, Vol. 23, no. 1, p. 125-133 (2009)
Leukemia, 23, 125-33

Contains fulltext : 80509.pdf (Publisher’s version ) (Closed access) Episomes with the NUP214-ABL1 fusion gene have been observed in 6% of T-ALL. In this multicentric study we collected 27 cases of NUP214-ABL1-positive T-ALL. Median age was 15 year

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80c43167af22db7b99eb161228a7182
https://hdl.handle.net/2066/80509

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ARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells

Autor: P, Jay, J L, Bergé-Lefranc, A, Massacrier, E, Roessler, D, Wallis, M, Muenke, M, Gastaldi, S, Taviaux, P, Cau, P, Berta

Publikováno v: European journal of biochemistry. 267(10)

A cDNA encoding a new human actin-related protein (ARP) was cloned. The corresponding protein is highly conserved with the previously described ARP3 protein, suggesting that it represents a second isoform of the human ARP3 subfamily. This new actin-r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::48022edab1b7eb679fff580ec05e2601
https://pubmed.ncbi.nlm.nih.gov/10806390

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Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes

Autor: S, Taviaux, V, Brunel, M, Dupont, F, Fernandez, C, Ferraz, N, Carbuccia, D, Sainty, J, Demaille, F, Birg, M, Lafage-Pochitaloff

Publikováno v: Genes, chromosomescancer. 24(2)

We report on the molecular characterization of two acute myeloid leukemias (AML), one AML-M1 (patient 1) and one AML-M2 (patient 2) with t(8;21)(p21;q22) and t(8;20)(q22;p13), respectively, at diagnosis. The locations of the breakpoints, 21q22 in pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::795138aa3b5a6498324bf5091dde2379
https://pubmed.ncbi.nlm.nih.gov/9885986

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