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51

Nucleolar localization of the carboxy-truncated form of the signal transducer and activator of transcription 5 (STAT5β) detected in CML and AML5

Touche, N, Schohn, H, Bonnet, C, Buisine, J, Plénat, F, Philippe, C, Jonveaux, P

Journal:

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

52

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

Minh Tuan Huynh, Mylène Béri-Dexheimer, Céline Bonnet, Myriam Bronner, Asma Ali Khan, Lila Allou, Christophe Philippe, Jacqueline Vigneron, Philippe Jonveaux

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

53

(C6) Mutations of the P53 gene in myelodysplastic syndromes (MDS). A report on 152 cases

P. Fenaux, Ph. Jonveaux, I. Quiquandron, J.L. Laï, C. Preudhomme, M.H. Loucheux-Lefebvre, F. Bauters, R. Berger, J.P. Kerckaert

Journal:

Leukemia Research

Year:

1991

Language:

english

File:

PDF, 171 KB

english, 1991

54

t(1;19)(q23;p13) in a case of acute monocytic leukemia

Hans Josef Weh, Philippe Jonveaux, Doris Seeger, Jörg Felgner, Dieter Kurt Hossfeld

Journal:

Cancer Genetics and Cytogenetics

Year:

1996

Language:

english

File:

PDF, 277 KB

english, 1996

55

Partial deletion of the long arm of chromosome 5: A fluorescence in situ hybridization study using band-specific painting probes generated by chromosome microdissection

Isabelle Tigaud, Christiane Charrin, Roland Berger, Philippe Jonveaux

Journal:

Cancer Genetics and Cytogenetics

Year:

1996

Language:

english

File:

PDF, 219 KB

english, 1996

56

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization

Violaine Bourdon, Ghislaine Plessis, Françoise Chapon, José Guarnieri, Jean Michel Derlon, Philippe Jonveaux

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

57

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients

Violaine Bourdon, Christophe Philippe, Agnès Grandemenge, Kathrin Reichwald, Philippe Jonveaux

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

58

t(14;18) AND BCL-2 GENE REARRANGEMENT IN A B-CHRONIC LYMPHOCYTIC LEUKAEMIA

Ph. Jonveaux, J. Hillion, A. L. Bennaceur, M. F. D'Agay, P. Brice, M. T. Daniel, F. Sigaux, R. Berger

Journal:

British Journal of Haematology

Year:

1992

Language:

english

File:

PDF, 385 KB

english, 1992

59

Mutations of the P53 gene in acute myeloid leukaemia

Dr Pierre Fenaux, Claude Preudhomme, Isabelle Quiquandon, Philippe Jonveaux, Jean Luc Laï, Mickael Vanrumbeke, Marie Henriette Loucheux-Lefebvre, Francis Bauters, Roland Berger, Jean Pierre Kerckaert

Journal:

British Journal of Haematology

Year:

1992

Language:

english

File:

PDF, 835 KB

english, 1992

60

Leukaemic non-Hodgkin's lymphomas with hyperdiploid cells and t(ll;14)(ql3;q32): a subtype of mantle cell lymphoma?

MARIE-THERESE DANIEL, ISABELLE TIGAUD, MARIE-ANGE FLEXOR, MARIA-ELENA NOGUEIRA, ROLAND BERGER, PHILIPPE JONVEAUX

Journal:

British Journal of Haematology

Year:

1995

Language:

english

File:

PDF, 660 KB

english, 1995

61

Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21

Cinzia Sala, Giulia Arrigo, Giovanna Torri, Francesco Martinazzi, Paola Riva, Lidia Larizza, Christophe Philippe, Philippe Jonveaux, Frederique Sloan, Tullio Labella, Daniela Toniolo

Journal:

Year:

1997

Language:

english

File:

PDF, 583 KB

english, 1997

62

Impact de l'étude familiale sur le pronostic et le conseil génétique chez un enfant porteur d'une délétion des exons 50-51 du gène de la dystrophine

G. Lesca, H. Testard, N. Streichenberger, J.-F. Pelissier, C. Lestra, E. Burel, P. Jonveaux, L. Michel-Calemard

Journal:

Archives de Pédiatrie

Year:

2007

File:

PDF, 509 KB

2007

63

Technique d’hybridation génomique comparative sur microréseau d’ADN et fœtopathologie

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 370 KB

french, 2010

64

IgG deficiency and expansion of CTG repeats in myotonic dystrophy

Pierre Kaminsky, Jean François Lesesve, Philippe Jonveaux, Lelia Pruna

Journal:

Clinical Neurology and Neurosurgery

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

65

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

C. Philippe, L. Villard, N. De Roux, M. Raynaud, J.P. Bonnefond, L. Pasquier, G. Lesca, J. Mancini, P. Jonveaux, A. Moncla, J. Chelly, T. Bienvenu

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

66

Deleterious mutations in exon 1 of MECP2 in Rett syndrome

Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Vincent des Portes, François Rivier, Michèle Mathieu, Grégory Raux, Philippe Jonveaux, Christophe Philippe

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 484 KB

english, 2006

67

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

Saliha Yilmaz, Hervé Fontaine, Karène Brochet, Marie-José Grégoire, Marie-Dominique Devignes, Jean-Luc Schaff, Christophe Philippe, Christophe Nemos, John Louis McGregor, Philippe Jonveaux

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 527 KB

english, 2007

68

Prenatal diagnosis of mosaicism for 11q terminal deletion

M. Valduga, V. Latger Cannard, C. Philippe, S. Romana, A. Miton, P. Droulle, B. Foliguet, T. Lecompte, P. Jonveaux

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 484 KB

english, 2007

69

L'hybridation génomique comparative sur microréseau d'ADN (puces à ADN) en pathologie chromosomique constitutionnelle

M. Béri-Dexheimer, C. Bonnet, P. Chambon, K. Brochet, M.-J. Grégoire, P. Jonveaux

Journal:

Pathologie Biologie

Year:

2007

Language:

french

File:

PDF, 300 KB

french, 2007

70

Cytogénétique 2008 et Pathologie et Biologie

R. Berger, P. Jonveaux

Journal:

Pathologie Biologie

Year:

2008

Language:

french

File:

PDF, 76 KB

french, 2008

71

Gestion des variations du nombre de séquences génomiques (CNV) en génétique humaine constitutionnelle utilisant l’hybridation génomique comparative en microréseau d’ADN (HGCM)

C. Nemos, A.-C. Bursztejn, P. Jonveaux

Journal:

Pathologie Biologie

Year:

2008

Language:

french

File:

PDF, 572 KB

french, 2008

72

Regards sur la génétique médicale

Journal:

Pathologie Biologie

Year:

2010

Language:

french

File:

PDF, 111 KB

french, 2010

73

The Incidence of Rett Syndrome in France

Thierry Bienvenu, Christophe Philippe, Nicolas De Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaetan Lesca, Josette Mancini, Philippe Jonveaux, Anne Moncla, Josué Feingold, Jamel Che

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

74

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Bernard Echenne, Agathe Roubertie, Dorien Lugtenberg, Titske Kleefstra, Ben C.J. Hamel, Hans Van Bokhoven, Didier Lacombe, Christophe Philippe, Philippe Jonveaux, Arjan P.M. de Brouwer

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

75

Tumeur germinale de l'ovaire, hémopathie maligne et anomalies chromosomiques chez une fille de 3 ans

S Samacki, JC Fournet, A Baruchel, JL Michel, MF Tournade, F Pein, P Jonveaux, N Brousse, CN Fékété

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 97 KB

1997

76

A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

Silvia Bione, Cinzia Sala, Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.10 MB

english, 1998

77

Chromosomal deletions in non-Hodgkin's malignant lymphomas

Philippe Jonveaux, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1990

Language:

english

File:

PDF, 231 KB

english, 1990

78

Deletion of (7p13p14) in non-Hodgkin's lymphoma

Philippe Jonveaux, Maryvonne Le Coniat, Josette Derré, Danièle Vecchione, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1990

Language:

english

File:

PDF, 272 KB

english, 1990

79

5q− anomaly preceding acute myeloblastic leukemia with 53 chromosomes without chromosome 5 abnormality

Philippe Jonveaux, Marie-Thérèse Daniel, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1993

Language:

english

File:

PDF, 138 KB

english, 1993

80

Lack of mutations in the P53 gene exons 5 to 8 in ataxia-telangiectasia

Philippe Jonveaux, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1993

Language:

english

File:

PDF, 159 KB

english, 1993

81

Trisomy 6 as the sole chromosome abnormality in myeloid disorders

Philippe Jonveaux, Pierre Fenaux, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1994

Language:

english

File:

PDF, 193 KB

english, 1994

82

Cytogenetic studies in patients with Richter's syndrome

Josée Hébert, Philippe Jonveaux, Marie-Françoise d'Agay, Roland Berger

Journal:

Cancer Genetics and Cytogenetics

Year:

1994

Language:

english

File:

PDF, 391 KB

english, 1994

83

Event-related auditory evoked potentials and multiple sclerosis

R. Gil, L. Zai, J.P. Neau, T. Jonveaux, C. Agbo, T. Rosolacci, P. Burbaud, P. Ingrand

Journal:

Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section

Year:

1993

Language:

english

File:

PDF, 592 KB

english, 1993

84

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

L Lambert, T Bienvenu, L Allou, M Valduga, B Echenne, B Diebold, C Mignot, D Héron, V Roth, A Saunier, A MoustaÏne, P Jonveaux, C Philippe

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 550 KB

english, 2012

85

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis

Auger, Julie, Bonnet, Céline, Valduga, Mylène, Philippe, Christophe, Bertolo-Houriez, Emmanuelle, Beri-Dexheimer, Mylène, Schweitzer, Cyril, Leheup, Bruno, Jonveaux, Philippe

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 165 KB

english, 2013

86

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.

Journal:

Journal of Endocrinological Investigation

Year:

2014

Language:

english

File:

PDF, 196 KB

english, 2014

87

An interlocutory strategy for Alzheimer's disease patients: Spatialization of temporal appropriation

Jonveaux, Therese Rivasseau, Martine, Batt, Alain, Trognon, Renald, Lanfroy

Journal:

Alzheimer's & Dementia

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

88

Maladie d’Alzheimer et évaluation de la temporalité de la vie quotidienne : l’estimation de durée est-elle mieux préservée en mémoire située ou déclarative ?

Rivasseau Jonveaux, Thérèse, Trognon, Alain, Batt, Martine, Braun, Marc, Empereur, Fabienne

Journal:

Annales Médico-psychologiques, revue psychiatrique

Year:

2013

Language:

english

File:

PDF, 453 KB

english, 2013

89

Apports du réflexe trigémino-facial dans l'étude du syndrome de Wallenberg

Neau, J.P., Gil, R, Rosolacci, T, Jonveaux, T, Burbaud, P, Agbo, C

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

1991

File:

PDF, 296 KB

1991

90

Le syndrome de Wolfram : mise au point clinique et génétique à propos du cas de deux sœurs

Conart, J.-B., Maalouf, T., Jonveaux, P., Guerci, B., Angioi, K.

Journal:

Journal Français d'Ophtalmologie

Year:

2011

Language:

french

File:

PDF, 227 KB

french, 2011

91

Interest of geriatric assessment on depression and therapeutic management of elderly patients with cancer

Niemier⁎, J.-Y., Perret-Guillaume, C., Bouvel, B., Chone, L., Jonveaux, T., Benetos, A.

Journal:

Journal of Geriatric Oncology

Year:

2012

Language:

english

File:

PDF, 196 KB

english, 2012

92

Effets secondaires neurologiques rares de l'amiodarone

Arnaud, A., Neau, J.Ph., Rivasseau-Jonveaux, T., Breton, I., Marechaud, R., Gil, R.

Journal:

La Revue de Médecine Interne

Year:

1990

File:

PDF, 55 KB

1990

93

Toxicité neurologique de l'amiodarone. À propos de cinq observations

Arnaud, A., Neau, J.Ph., Rivasseau-Jonveaux, Th., Marechaud, R., Gil, R.

Journal:

La Revue de Médecine Interne

Year:

1992

File:

PDF, 379 KB

1992

94

601 Cas familial de syndrome de Wolfram

Casillas Gil, M., Jonveaux, P., Paquis, V., George, J.L., Angioi, K.

Journal:

Journal Français d'Ophtalmologie

Year:

2007

Language:

french

File:

PDF, 134 KB

french, 2007

95

Vécu de l’annonce de diagnostic de glioblastome par le patient et son entourage

Lanfroy, Renald, Colmar, Katia, Garat, Evelyne, Taillandier, Luc, Batt, Martine, Trognon, Alain, Jonveaux, Therèse

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 64 KB

french, 2012

96

P064 - Pseudo-syndrome d’albright secondaire à une délétion chromosomique 2 Q 37

Weryha, G., Trabelsi, L., Chatelin, J., Grégoire, M.-J., Sellier, A., Muresan, M., Pascal-Vigneron, V., Jonveaux, P., Klein, M.

Journal:

Annales d'Endocrinologie

Year:

2005

Language:

french

File:

PDF, 59 KB

french, 2005

97

P5b-44 Conception d’un jardin thérapeutique destiné aux patients atteints de maladie d’Alzheimer : Quelle contribution peut apporter une démarche artistique ?

Jonveaux, T., Fescharek, R.

Journal:

Revue Neurologique

Year:

2009

Language:

french

File:

PDF, 108 KB

french, 2009

98

Mutation JAK2-V617F chez deux patients présentant une thrombose veineuse mésentérique sans syndrome myéloprolifératif chronique

Zuily, S., Valla, M., Saadi, L., Leotard, B., Jonveaux, P., Wahl, D., Lecompte, T.

Journal:

Journal des Maladies Vasculaires

Year:

2008

Language:

french

File:

PDF, 46 KB

french, 2008

99

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

Wiedemann, A., Leheup, B., Battaglia-Hsu, S.-F., Jonveaux, P., Jeannesson, E., Feillet, F.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 218 KB

english, 2013

100

Biomarqueurs France : résultats de l’analyse en routine de EGFR, HER2, KRAS, BRAF, PI3K, et ALK sur 10 000 patients (pts) atteints de cancer bronchique non à petites cellules (CBNPC)

Barlesi, F., Blons, H., Beau-Faller, M., Rouquette, I., Ouafik, L., Mosser, J., Merlio, J.P., Bringuier, P.P., Jonveaux, P., Le Marechal, C., Denis, M., Penault-Llorca, F., Debieuvre, D., Soria, J.C.,

Journal:

Revue des Maladies Respiratoires

Year:

2014

Language:

french

File:

PDF, 77 KB

french, 2014

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