OpenURL Connection Search

Select item for more details and to access through your institution.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Published in:
Clinical Genetics, 2017, v. 91, n. 4, p. 576, doi. 10.1111/cge.12898
By:
- El Chehadeh, S.;
- Touraine, R.;
- Prieur, F.;
- Reardon, W.;
- Bienvenu, T.;
- Chantot ‐ Bastaraud, S.;
- Doco ‐ Fenzy, M.;
- Landais, E.;
- Philippe, C.;
- Marle, N.;
- Callier, P.;
- Mosca ‐ Boidron, A. ‐ L.;
- Mugneret, F.;
- Le Meur, N.;
- Goldenberg, A.;
- Guerrot, A. ‐ M.;
- Chambon, P.;
- Satre, V.;
- Coutton, C.;
- Jouk, P. ‐ S.
Publication type:
Article
Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation.
Published in:
Bone Marrow Transplantation, 1998, v. 21, n. 9, p. 943, doi. 10.1038/sj.bmt.1701213
By:
- Fouillard, L.;
- Deconinck, E.;
- Tiberghien, P.;
- Deschaseaux, M.-L.;
- Solary, E.;
- Mugneret, F.;
- Brion, A.;
- Herve, P.;
- Cahn, J.-Y.
Publication type:
Article
Establishment and characterization of three transplantable EBV-containing nasopharyngeal carcinomas.
Published in:
International Journal of Cancer, 1988, v. 42, n. 4, p. 599, doi. 10.1002/ijc.2910420422
By:
- Busson, P.;
- Ganem, G.;
- Flores, P.;
- Mugneret, F.;
- Clausse, B.;
- Caillou, B.;
- Braham, K.;
- Wakasugi, H.;
- Lipinski, M.;
- Tursz, T.
Publication type:
Article
Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly.
Published in:
2000
By:
- Robinet, Christel;
- Douvier, Serge;
- Khau Van Kien, Philippe;
- Favre, Bernardine;
- Luquet, Isabelle;
- Nadal, Nathalie;
- Nivelon-Chevallier, Annie;
- Mugneret, Francine;
- Robinet, C;
- Douvier, S;
- Khau Van Kien, P;
- Favre, B;
- Luquet, I;
- Nadal, N;
- Nivelon-Chevallier, A;
- Mugneret, F
Publication type:
Case Study
LETTER TO THE EDITOR. DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY.
Published in:
Prenatal Diagnosis, 1996, v. 16, n. 11, p. 1059, doi. 10.1002/(SICI)1097-0223(199611)16:11<1059::AID-PD993>3.0.CO;2-Z
By:
- BRUYERE, H.;
- FAVRE, B.;
- DOUVIER, S.;
- NIVELON-CHEVALIER, A.;
- MUGNERET, F.
Publication type:
Article
Minimally differentiated acute myeloid leukemia (AML-MO) with lymphoid presentation at relapse: a case report.
Published in:
2001
By:
- Ysebaert, L;
- Carli, P M;
- Casasnovas, R O;
- Girodon, F;
- Caillot, D;
- Mugneret, F;
- Maynadié, M
Publication type:
Case Study
MLL amplification in acute leukaemia: a United Kingdom Cancer Cytogenetics Group (UKCCG) study.
Published in:
2000
By:
- Cuthbert, G;
- Thompson, K;
- McCullough, S;
- Watmore, A;
- Dickinson, H;
- Telford, N;
- Mugneret, F;
- Harrison, C;
- Griffiths, M;
- Bown, N
Publication type:
journal article
Increase therapy-related leukemia secondary to breast cancer.
Published in:
2000
By:
- Carli, P M;
- Sgro, C;
- Parchin-Geneste, N;
- Isambert, N;
- Mugneret, F;
- Girodon, F;
- Maynadié, M
Publication type:
journal article
Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Published in:
1998
By:
- Harrison, C J;
- Cuneo, A;
- Clark, R;
- Johansson, B;
- Lafage-Pochitaloff, M;
- Mugneret, F;
- Moorman, A V;
- Secker-Walker, L M
Publication type:
journal article
Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study of 432 patients.
Published in:
1998
By:
- Casasnovas, R O;
- Campos, L;
- Mugneret, F;
- Charrin, C;
- Béné, M C;
- Garand, R;
- Favre, M;
- Sartiaux, C;
- Chaumarel, I;
- Bernier, M;
- Faure, G;
- Solary, E
Publication type:
journal article
Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias.
Published in:
2010
By:
- Couronné, L.;
- Lippert, E.;
- Andrieux, J.;
- Kosmider, O.;
- Radford-Weiss, I.;
- Penther, D.;
- Dastugue, N.;
- Mugneret, F.;
- Lafage, M.;
- Gachard, N.;
- Nadal, N.;
- Bernard, O. A.;
- Nguyen-Khac, F.;
- Couronné, L
Publication type:
Letter
Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases.
Published in:
Leukemia (08876924), 2009, v. 23, n. 1, p. 85, doi. 10.1038/leu.2008.257
By:
- Murati, A;
- Gervais, C;
- Carbuccia, N;
- Finetti, P;
- Cervera, N;
- Adélaïde, J;
- Struski, S;
- Lippert, E;
- Mugneret, F;
- Tigaud, I;
- Penther, D;
- Bastard, C;
- Poppe, B;
- Speleman, F;
- Baranger, L;
- Luquet, I;
- Cornillet-Lefebvre, P;
- Nadal, N;
- Nguyen-Khac, F;
- Pérot, C
Publication type:
Article
Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia.
Published in:
Leukemia (08876924), 2009, v. 23, n. 1, p. 125, doi. 10.1038/leu.2008.278
By:
- Graux, C;
- Stevens-Kroef, M;
- Lafage, M;
- Dastugue, N;
- Harrison, C J;
- Mugneret, F;
- Bahloula, K;
- Struski, S;
- Grégoire, M J;
- Nadal, N;
- Lippert, E;
- Taviaux, S;
- Simons, A;
- Kuiper, R P;
- Moorman, A V;
- Barber, K;
- Bosly, A;
- Michaux, L;
- Vandenberghe, P;
- Lahortiga, I
Publication type:
Article
The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia.
Published in:
2008
By:
- Chapiro, E.;
- Radford-Weiss, I.;
- Bastard, C.;
- Luquet, I.;
- Lefebvre, C.;
- Callet-Bauchu, E.;
- Leroux, D.;
- Talmant, P.;
- Mozziconacci, M.-J.;
- Mugneret, F.;
- Struski, S.;
- Raynaud, S.;
- Andrieux, J.;
- Barin, C.;
- Jotterand, M.;
- Mossafa, H.;
- Ramond, S.;
- Terré, C.;
- Lippert, E.;
- Berger, F.
Publication type:
Letter
Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique.
Published in:
Leukemia (08876924), 2008, v. 22, n. 8, p. 1567, doi. 10.1038/leu.2008.128
By:
- Gervais, C.;
- Murati, A.;
- Helias, C.;
- Struski, S.;
- Eischen, A.;
- Lippert, E.;
- Tigaud, I.;
- Penther, D.;
- Bastard, C.;
- Mugneret, F.;
- Poppe, B.;
- Speleman, F.;
- Talmant, P.;
- Akker, J. VanDen;
- Baranger, L.;
- Barin, C.;
- Luquet, I.;
- Nadal, N.;
- Nguyen-Khac, F.;
- Maarek, O.
Publication type:
Article
Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH).
Published in:
2008
By:
- Luquet, I.;
- Laï, J. L.;
- Barin, C.;
- Baranger, L.;
- Bilhou-Nabera, C.;
- Lippert, E.;
- Gervais, C.;
- Talmant, P.;
- Cornillet-Lefebvre, P.;
- Perot, C.;
- Nadal, N.;
- Mozziconacci, M. J.;
- Lafage-Pochitaloff, M.;
- Eclache, V.;
- Mugneret, F.;
- Lefebvre, C.;
- Herens, C.;
- Speleman, F.;
- Poirel, H.;
- Tigaud, I.
Publication type:
journal article
Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.
Published in:
Leukemia (08876924), 2007, v. 21, n. 1, p. 121, doi. 10.1038/sj.leu.2404410
By:
- Cauwelier, B.;
- Cavé, H.;
- Gervais, C.;
- Lessard, M.;
- Barin, C.;
- Perot, C.;
- Van den Akker, J.;
- Mugneret, F.;
- Charrin, C.;
- Pagès, M. P.;
- Grégoire, M.-J.;
- Jonveaux, P.;
- Lafage-Pochitaloff, M.;
- Mozzicconacci, M. J.;
- Terré, C.;
- Luquet, I.;
- Cornillet-Lefebvre, P.;
- Laurence, B.;
- Plessis, G.;
- Lefebvre, C.
Publication type:
Article
NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.
Published in:
Leukemia (08876924), 2006, v. 20, n. 4, p. 696, doi. 10.1038/sj.leu.2404130
By:
- Romana, S. P.;
- Radford-Weiss, I.;
- Ben Abdelali, R.;
- Schluth, C.;
- Petit, A.;
- Dastugue, N.;
- Talmant, P.;
- Bilhou-Nabera, C.;
- Mugneret, F.;
- Lafage-Pochitaloff, M.;
- Mozziconacci, M.-J.;
- Andrieu, J.;
- Lai, J.-L.;
- Terre, C.;
- Rack, K.;
- Cornillet-Lefebvre, P.;
- Luquet, I.;
- Nadal, N.;
- Nguyen-Khac, F.;
- Perot, C.
Publication type:
Article
Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia.
Published in:
Leukemia (08876924), 2004, v. 18, n. 8, p. 1340, doi. 10.1038/sj.leu.2403399
By:
- Terre, C.;
- Eclache, V.;
- Rousselot, P.;
- Imbert, M.;
- Charrin, C.;
- Gervais, C.;
- Mozziconacci, M. J.;
- Maarek, O.;
- Mossafa, H.;
- Auger, N.;
- Dastugue, N.;
- Talmant, P.;
- Van Den Akker, J.;
- Leonard, C.;
- N'Guyen Khac, F.;
- Mugneret, F.;
- Viguié, F.;
- Lafage-Pochitaloff, M.;
- Bastie, J. N.;
- Roux, G. l.
Publication type:
Article
t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).
Published in:
Leukemia (08876924), 2003, v. 17, n. 9, p. 1851, doi. 10.1038/sj.leu.2403061
By:
- Berger, R.;
- Dastugue, N.;
- Busson, M.;
- van den Akker, J.;
- Pérot, C.;
- Ballerini, P.;
- Hagemeijer, A.;
- Michaux, L.;
- Charrin, C.;
- Pages, M.P.;
- Mugneret, F.;
- Andrieux, J.;
- Talmant, P.;
- Hélias, C.;
- Mauvieux, L.;
- Lafage-Pochitaloff, M.;
- Mozziconacci, M-J;
- Cornillet-Lefebvre, P.;
- Radford, I.;
- Asnafi, V.
Publication type:
Article
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2031, doi. 10.1002/ajmg.a.34105
By:
- Mosca, A.L.;
- Callier, P.;
- Faivre, L.;
- Laurent, N.;
- Rousseau, T.;
- Marle, N.;
- Payet, M.;
- Guy, H.;
- Couvreur, S.;
- Masurel-Paulet, A.;
- Sagot, P.;
- Thauvin-Robinet, C.;
- Mugneret, F.
Publication type:
Article
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.
Published in:
Prenatal Diagnosis, 2014, v. 34, n. 12, p. 1133, doi. 10.1002/pd.4439
By:
- Gruchy, N.;
- Vialard, F.;
- Blondeel, E.;
- Le Meur, N.;
- Joly‐Hélas, G.;
- Chambon, P.;
- Till, M.;
- Herbaut‐Graux, M.;
- Vigouroux‐Castera, A.;
- Coussement, A.;
- Lespinasse, J.;
- Amblard, F.;
- Jimenez, M.;
- Lebel Roy Camille, L.;
- Carré‐Pigeon, F.;
- Flori, E.;
- Mugneret, F.;
- Jaillard, S.;
- Yardin, C.;
- Harbuz, R.
Publication type:
Article
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.
Published in:
Prenatal Diagnosis, 2014, v. 34, n. 5, p. 424, doi. 10.1002/pd.4321
By:
- 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.
Publication type:
Article
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 9, p. 912, doi. 10.1002/pd.2793
By:
- Mosca, A. L.;
- Pinson, L.;
- Andrieux, J.;
- Copin, H.;
- Bigi, N.;
- Puechberty, J.;
- Sarda, P.;
- Receveur, A.;
- Sevestre, H.;
- Pigeonnat, S.;
- Marle, N.;
- Payet, M.;
- Ragon, C.;
- Rousseau, T.;
- Thauvin-Robinet, C.;
- Masurel-Paulet, A.;
- Schneider, A.;
- Laurent, N.;
- Sagot, P.;
- Mugneret, F.
Publication type:
Article
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 10, p. 1002, doi. 10.1002/pd.2333
By:
- Callier, P.;
- Faivre, L.;
- Pigeonnat, S.;
- Quilichini, B.;
- Marle, N.;
- Thauvin-Robinet, C.;
- Mosca, A. L.;
- Masurel-Paulet, A.;
- Rousseau, T.;
- Sagot, P.;
- Laurent, N.;
- Mugneret, F.
Publication type:
Article
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 6, p. 555, doi. 10.1002/pd.1724
By:
- Thauvin-Robinet, C.;
- Callier, P.;
- Laurent, N.;
- Rousseau, T.;
- Masurel-Paulet, A.;
- Marle, N.;
- Huet, F.;
- Sagot, P.;
- Faivre, L.;
- Mugneret, F.
Publication type:
Article
X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism.
Published in:
2005
By:
- Thauvin-Robinet, C.;
- Lambert, D.;
- Vaillant, G.;
- Caillier, P.;
- Donzel, A.;
- Cusin, V.;
- Huet, F.;
- Teyssier, J . -R.;
- Mugneret, F.;
- Faivre, L.
Publication type:
Letter

Found: 27