Zobrazeno 1 - 10
of 22
pro vyhledávání: '"V. Bennouna Greene"'
Autor:
V. Bennouna Greene, Jack R. Foucher
Publikováno v:
Annales Médico-Psychologiques, Revue Psychiatrique
Annales Médico-Psychologiques, Revue Psychiatrique, Elsevier Masson, 2010, 168 (8), pp.609. ⟨10.1016/j.amp.2009.12.018⟩
Annales Médico-Psychologiques, Revue Psychiatrique, Elsevier Masson, 2010, 168 (8), pp.609. ⟨10.1016/j.amp.2009.12.018⟩
International audience; Les classifications internationales en psychiatrie, la CIM et le DSM, ont permis un accroissement rapide des connaissances factuelles sur les troubles qu'elles définissent, sans que cela se soit accompagné d'un accroissement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c66adc5e69f7bef7ddf07e220d1608f2
https://doi.org/10.1016/j.amp.2009.12.018
https://doi.org/10.1016/j.amp.2009.12.018
Autor:
H De Korvin, Jean-Louis Dufier, Y Perdomo-Trujillo, Catherine Boileau, V. Bennouna Greene, Corinne Stoetzel, L Liebermann, Hélène Dollfus, Vincent Marion, Valérie Pelletier
Publikováno v:
Ophthalmic Genetics. 31:47-51
Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9211f2adf78f4258dd63223ccd9e8f5d
https://doi.org/10.3109/13816810903567604
https://doi.org/10.3109/13816810903567604
Autor:
F. Stutzmann, Druck Reinhardt Druck Basel, R. Hovland, B. Lace, A. Brendehaug, A. Zaloszyc, R. Capolino, M.C. Digilio, S. Caillard, R. Teek, K. Joost, N. Ponomarenko, K. Zerres, C. Redin, N. Katsanis, L. Perrin, S. Rudnik-Schöneborn, N. Van der Aa, O. Žilina, K. Muru, R. Žordania, M. Van den Bergh, A. Baban, L. Verstraete, I. Kalev, C. Stoetzel, T. Reimand, M. Peters, U. Hehr, S. Wiegand, Satz Mengensatzproduktion, M. Kreile, V. Marion, K. Storm, M. Gérard, P. Tammur, M.L. Dentici, X. Bei, C. Mutter, P. Versacci, K. Alme, L. Graul-Neumann, M. Sõnajalg, B. Ceulemans, J. Letsch, M. Durand, B. Dallapiccola, K. Kuuse, R.A. Lewis, H. Mellerowicz, V. Bennouna Greene, H. Dollfus, J. Lauer, F. Lepri, K. Õunap, E. Schaefer, A. De Luca, M. Kribs, S. Berland, A. Toutain, R. Ferese, D. Christmann, J. Muller, B. Marino, M. Tartaglia, G. Houge, I. Talvik, Y. Perdomo-Trujillo, M. Fischbach
Publikováno v:
Molecular Syndromology. 1:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe78536409ba1dc09bc2c8c0bba24cfd
https://doi.org/10.1159/000332054
https://doi.org/10.1159/000332054
Autor:
Xiaoshu Bei, V. Bennouna Greene, Hélène Dollfus, Nicholas Katsanis, Jean Muller, M. Kribs, Laurence Perrin, F. Stutzmann, Claire Redin, Annick Toutain, Myriam Durand, M. Fischbach, Vincent Marion, Richard A. Lewis, S. Caillard, D. Christmann, Y. Perdomo-Trujillo, Marion Gérard, C. Mutter, Elise Schaefer, Julia Lauer, Corinne Stoetzel, A. Zaloszyc, J. Letsch
Publikováno v:
Molecular Syndromology. 1:273-281
The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::896d17a38e34576623a9566f0f194aad
https://doi.org/10.1159/000331268
https://doi.org/10.1159/000331268
Autor:
Sabine Sigaudy, Fabienne Giuliano, Massimiliano Rossi, D. Gérard, David Germanaud, Lucie Hertz-Pannier, Gérald Bussy, V. des Portes, Patricia Blanchet, R. Touraine, Pierre Sarda, Aurore Curie, Hélène Dollfus, V. Bennouna-Greene, Marie-Claire Vincent
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2011, 79 (3), pp.225-35. ⟨10.1111/j.1399-0004.2010.01551.x⟩
Clinical Genetics, 2011, 79 (3), pp.225-35. ⟨10.1111/j.1399-0004.2010.01551.x⟩
Clinical Genetics, Wiley, 2011, 79 (3), pp.225-35. ⟨10.1111/j.1399-0004.2010.01551.x⟩
Clinical Genetics, 2011, 79 (3), pp.225-35. ⟨10.1111/j.1399-0004.2010.01551.x⟩
International audience; Since the first reports of polyglutamine-binding protein 1 (PQBP1) mutations in Renpenning syndrome and related disorders, the spectrum of PQBP1-linked clinical manifestations has been outlined from rare published case reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e66e5f5d84c01dc84e6ceaabc54087
https://pubmed.ncbi.nlm.nih.gov/20950397
https://pubmed.ncbi.nlm.nih.gov/20950397
Autor:
Serge Vicaire, Dominique Bonneau, Pierre Bitoun, Nicholas Katsanis, Sophie Hellé, Alice Goldenberg, Valérie Drouin-Garraud, Marie-Claire Vincent, Jean Marc Danse, Vincent Marion, Sabine Sigaudy, Joelle Roume, M. Hamdani, Sylvie Odent, Christine Francannet, Erica E. Davis, Alain Verloes, V. Bennouna-Greene, Jean Muller, Josseline Kaplan, Hélène Dollfus, Virginie Laurier, Jean-Louis Mandel, André Mégarbané, Carmen C. Leitch, Jane Green, Mireille Cossée, Corinne Stoetzel, Nicole Philip, Olivier Poch
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. 〈10.1007/s00439-010-0804-9〉
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. 〈10.1007/s00439-010-0804-9〉
International audience; Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371e52fd6b2c5514fd0c45f77e0b1a49
https://www.hal.inserm.fr/inserm-00462147
https://www.hal.inserm.fr/inserm-00462147
Autor:
F. Veillon, V. Pelletier, Jean Marc Danse, Vincent Marion, B. Leheup, Jacqueline Vigneron, Hélène Dollfus, C. Thibault, Sophie Hellé, Sophie Riehm, Corinne Stoetzel, Luc Moulinier, V. Bennouna Greene
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
International audience; Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca22e506e35f8cb81b265fe02c024f6d
https://pubmed.ncbi.nlm.nih.gov/19764023
https://pubmed.ncbi.nlm.nih.gov/19764023
Publikováno v:
European Psychiatry. 25:1-1
We know from neurological diseases that there is not only one way to hallucinate. This might also be the case in the psychiatric field. During a trial on refractory verbal hallucinations, we rediscovered a subgroup described under several names in Fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86fe5b45dd74b6d9e5349ccab3581804
https://doi.org/10.1016/s0924-9338(10)70111-5
https://doi.org/10.1016/s0924-9338(10)70111-5
Autor:
Jack R. Foucher, V. Bennouna-Greene
Publikováno v:
European Psychiatry. 25:1-1
IntroductionThe international classifications in psychiatry, i.e. ICD-10 and DSM4R, allowed a fast increase of factual information. The improvement of reliability account for most of it. But it did not came with an increase in validity. We will argue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6801199dda9838d87cf43f2dd0460949
https://doi.org/10.1016/s0924-9338(10)70898-1
https://doi.org/10.1016/s0924-9338(10)70898-1
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