Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Marie José Grégoire"'
Autor:
Claire Beneteau, Marie-José Grégoire, Christophe Philippe, Marie Marvier, Juliette Piard, M. Béri, Philippe Jonveaux, Virginie Roth, B. Leheup, Céline Bonnet, M. Valduga
Publikováno v:
American Journal of Medical Genetics Part A. :1933-1941
The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac59465092aef2d71fe4d70fa819293
https://doi.org/10.1002/ajmg.a.33521
https://doi.org/10.1002/ajmg.a.33521
Autor:
B. Leheup, M. Béri, Céline Bonnet, Philippe Jonveaux, Marie-José Grégoire, Christophe Philippe
Publikováno v:
American Journal of Medical Genetics Part A. :1280-1289
Investigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR. We report on a family with a genomic duplication at Xq25 identified by oligo array-CGH. Fur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3e6861eb4b8ccf7f1ffb63436013ca
https://doi.org/10.1002/ajmg.a.32858
https://doi.org/10.1002/ajmg.a.32858
Publikováno v:
Journal of Human Genetics. 53:876-885
We report on a boy with myoclonus-dystonia (M-D), language delay, and malformative anomalies. Genetic investigations allowed the identification of an apparently balanced de novo reciprocal translocation, t(7;9)(q21;p23). Breakpoint-region mapping usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b150633630169ff83ca902235bfa397
https://doi.org/10.1007/s10038-008-0321-z
https://doi.org/10.1007/s10038-008-0321-z
Autor:
Véronique Latger-Cannard, Marie-José Grégoire, Thomas Lecompte, Mylène Béri-Dexheimer, Céline Bonnet, Pierre Bordigoni, Virginie Roth, Pascal Chambon, Philippe Jonveaux, Christophe Philippe, Bruno Leheup
Publikováno v:
European Journal of Human Genetics. 16:1014-1018
Germline RUNX1 mutations result in a rare autosomal dominant condition characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies (familial platelet disorder with propensity to acute m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f4279d4c9ce77566fe4456e0d195b6c
https://doi.org/10.1038/ejhg.2008.89
https://doi.org/10.1038/ejhg.2008.89
Autor:
Philippe Jonveaux, Mylène Béri-Deixheimer, Sylvain Briault, Bruno Leheup, Marie-José Grégoire, Karène Brochet, Annick Toutain, Jean-Luc Schaff
Publikováno v:
European Journal of Human Genetics. 15:446-452
The identification of subtelomeric rearrangements as a cause of mental retardation has made a considerable contribution to diagnosing patients with mental retardation. It is remarkable that for certain subtelomeric regions, deletions have hardly ever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897481d43c795efb8b9c344189a28c1f
https://doi.org/10.1038/sj.ejhg.5201784
https://doi.org/10.1038/sj.ejhg.5201784
Autor:
Philippe Jonveaux, Jean-François Stoltz, Christine André‐Botté, Pierre Bordigoni, Claudine Schmitt, V Latger-Cannard, Violaine Bourdon, Odile Avinens, Jean François Eliaou, Danièle Bensoussan, Françoise Le Deist, Marie José Grégoire, Pierre Feugier
Publikováno v:
British Journal of Haematology. 117:899-906
Summary. Complete DiGeorge syndrome (cDGS) is a congenital disorder characterized by typical facies, thymic aplasia, susceptibility to infections, hypoparathyroidism and conotruncal cardiac defect. Fetal thymus or post-natal thymus tissue transplanta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f8450fbc0cc6f2a1c14af0387085acc
https://doi.org/10.1046/j.1365-2141.2002.03496.x
https://doi.org/10.1046/j.1365-2141.2002.03496.x
Autor:
Marina Lafage-Pochitaloff, Bin Zhang, Cornel Popovici, Daniel Birnbaum, Marie-José Grégoire, Philippe Jonveaux, Marie-Josèphe Pébusque
Publikováno v:
Blood. 93:1381-1389
In patients with an atypical stem-cell myeloproliferative disorder with lymphoma (B or T cell), myeloid hyperplasia, and eosinophilia, the chromosome 8p11-12 region is the site of a recurrent breakpoint that can be associated with three different par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cad85019b8998bae9f0b914425b69fc0
https://doi.org/10.1182/blood.v93.4.1381
https://doi.org/10.1182/blood.v93.4.1381
Autor:
Thomas Lecompte, J. Didion, Y. Rio, Véronique Latger-Cannard, Marie-José Grégoire, Anne Staal-Viliare, Philippe Jonveaux
Publikováno v:
Leukemia & Lymphoma. 48:439-441
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89411a3180db51086b594eef42a0dbbd
https://doi.org/10.1080/10428190601072293
https://doi.org/10.1080/10428190601072293
Autor:
Pierre Lederlin, Jean-Claude Humbert, Agnès Guerci, Michèle Chery, Véronique Martel, Philippe Jonveaux, Marie-José Grégoire
Publikováno v:
British Journal of Haematology. 99:320-324
De novo methylation of the 5'CpG island has been recently reported as an alternative mechanism of inactivation for the tumour suppressor genes CDKN2A and CDKN2B. We examined CDKN2A methylation status at diagnosis in 42 B-cell chronic lymphocytic leuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e41f795a2788617e753cf54b1dda5dc
https://doi.org/10.1046/j.1365-2141.1997.3953209.x
https://doi.org/10.1046/j.1365-2141.1997.3953209.x
Autor:
E. Renoult, D. Hestin, Jacques Hubert, Josée Audouin, B. Aymard, Michèle Kessler, Pierre Lederlin, Abdel Bellou, Marie-José Grégoire
Publikováno v:
American Journal of Kidney Diseases. 26:84-87
A case of an Epstein-Barr virus (EBV)-associated B lymphoproliferative disorder presented as a renal transplant obstruction is reported. The diagnosis was made from histology, immunohistochemistry, and EBV expression studies. Cytogenetic analysis sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41129606545dff6b10e9e506e37b7046
https://doi.org/10.1016/0272-6386(95)90159-0
https://doi.org/10.1016/0272-6386(95)90159-0