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8 results on '"Paulet, P."'

2. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Author

Bonnet, F., Andrieux, A, Béri-Dexheimer, D, Leheup, L, Boute, B, Manouvrier, M, Delobel, D, Copin, C., Receveur, A., Mathieu, M., Thiriez, G., Le Caignec, L, David, D, de Blois, M, Malan, M, Philippe, P., Cormier-Daire, D, Colleaux, Laurence, Flori, F, Dollfus, D, Pelletier, P, Thauvin-Robinet, C., Masurel-Paulet, P, Faivre, F, Tardieu, M., Bahi-Buisson, N., Callier, P., Mugneret, F., Edery, P., Jonveaux, P., Sanlaville, D., Andrieux, J., Beri-Dexheimer, M., Leheup, B., Boute, O., Manouvrier, S., Delobel, B., Copin, H., Le Caignec, C., David, A., de Blois, C., Malan, V., Philippe, A., Cormier-Daire, V., Flori, E., Dollfus, H., Pelletier, V., Masurel-Paulet, A., Faivre, L., CHU Bordeaux [Bordeaux], UMR 1011, Institut National de la Santé et de la Recherche Médicale (INSERM), Ouvrages hydrauliques et hydrologie (UR OHAX), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Laboratoire de cytogénétique (CHU de Dijon), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique Clinique, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), and Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Microarray, Chromosome Disorders, 0302 clinical medicine, MESH: Child, MESH: Syndrome, MESH: In Situ Hybridization, Fluorescence, Child, Genetics (clinical), Growth Disorders, In Situ Hybridization, Fluorescence, Genetics, 0303 health sciences, Comparative Genomic Hybridization, MESH: Chromosome Disorders, Syndrome, Microdeletion syndrome, MESH: Growth Disorders, Phenotype, MESH: Infant, 3. Good health, MESH: Young Adult, Child, Preschool, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Haploinsufficiency, MESH: Chromosomes, Human, Pair 4, MESH: Abnormalities, Multiple, Adolescent, MESH: Chromosome Deletion, Biology, MESH: Language Development Disorders, MESH: Intellectual Disability, 03 medical and health sciences, Young Adult, Gene mapping, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Genetically modified animal, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Developmental disorder, MESH: Comparative Genomic Hybridization, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Female, 030217 neurology & neurosurgery, Comparative genomic hybridization
Abstract

International audience; BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microduplication syndromes. METHODS Owing to the national array-CGH network funded by the French Ministry of Health, shared information about patients with rare disease helped to define critical intervals and evaluate their gene content, and finally determine the phenotypic consequences of genomic array findings. RESULTS In this study, nine unrelated patients with overlapping de novo interstitial microdeletions involving 4q21 are reported. Several major features are common to all patients, including neonatal muscular hypotonia, severe psychomotor retardation, marked progressive growth restriction, distinctive facial features and absent or severely delayed speech. The boundaries and the sizes of the nine deletions are different, but an overlapping region of 1.37 Mb is defined; this region contains five RefSeq genes: PRKG2, RASGEF1B, HNRNPD, HNRPDL and ENOPH1. DISCUSSION Adding new individuals with similar clinical features and 4q21 deletion allowed us to reduce the critical genomic region encompassing two genes, PRKG2 and RASGEF1B. PRKG2 encodes cGMP-dependent protein kinase type II, which is expressed in brain and in cartilage. Information from genetically modified animal models is pertinent to the clinical phenotype. RASGEF1B is a guanine nucleotide exchange factor for Ras family proteins, and several members have been reported as key regulators of actin and microtubule dynamics during both dendrite and spine structural plasticity. CONCLUSION Clinical and molecular delineation of 4q21 deletion supports a novel microdeletion syndrome and suggests a major contribution of PRKG2 and RASGEF1B haploinsufficiency to the core phenotype.

Published
2010

3. Evaluation of vaccination with Nobilis Salenvac T in laying hens

Author

Dupé, P, Belloc, Catherine, Malher, Xavier, Paulet, P, ProdInra, Migration, Inconnu, UMR1300 Bio-agression, Epidémiologie et Analyse de Risque, and Institut National de la Recherche Agronomique (INRA)-ENVN

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2006

4. Enzootic renal adenocarcinoma of the reproductive Rhine geese

Author

Wyers, Monique, Kane, Y., Paulet, P., Germain, M., Alexandre, M., Thibault, E., Développement et Pathologie du Tissu Musculaire (DPTM), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Nantes, and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], MALADIE DU REIN, ETIOLOGIE, [SDV]Life Sciences [q-bio]
Published
1995

5. La ponte d'oeufs poreux chez l'oie du Rhin reproductrice : relation avec les tumeurs du rein

Author

Paulet, P., Wyers, Monique, Germain, M., Thibault, E., Guéreaud, Catherine, Fernandez, B., Alexandre, M., Développement et Pathologie du Tissu Musculaire (DPTM), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Nantes, and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
1995

6. The role of diet history and biologic assays in the study of 'diet and breast cancer'

Author

Mariette Gerber, Henri Pujol, Franco Cavallo, Sylvia Richardson, Crastes de Paulet P, Crastes de Paulet A, and Ettore Marubini

Subjects
Vitamin, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Breast Neoplasms, 030218 nuclear medicine & medical imaging, Cholesterol, Dietary, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Breast cancer, Nutrient, Internal medicine, Medicine, Humans, Vitamin E, chemistry.chemical_classification, Cholesterol, business.industry, Fatty acid, General Medicine, Odds ratio, medicine.disease, beta Carotene, Carotenoids, Dietary Fats, Endocrinology, Oncology, chemistry, Italy, 030220 oncology & carcinogenesis, Case-Control Studies, Saturated fatty acid, Female, France, business
Abstract

Nutritional factors related to breast cancer were investigated by means of a hospital-based case-control study in Milan (Italy) and Montpellier (France). Liposoluble vitamins, cholesterol and triglycerides were measured in blood samples taken from interviewed subjects (319 cases and 344 controls). In addition serum zinc and copper was assessed in the Italian samples and serum fatty acids and malonyl-di-aldehyde in the French samples. A significant difference was found between cases and controls in total fat and cholesterol intake in both populations, and in saturated fatty acid and mono-unsaturated fatty acid consumption in the French samples. No difference emerged in liposoluble vitamin consumption in both popula-tiosn nor in zinc and copper consumption in the Italian samples. A statistically significant higher serum level of cholesterol and plasma level of vitamin E was observed in cases compared to controls in both populations. The difference in plasma vitamin E was confirmed after adjustment on total cholesterol and triglycerides. Similarly, zinc serum level was higher in Italian cases than in Italian controls, while malonyl-di-aldehyde was lower in French cases than French controls. A multivariate analysis was performed after classification of cases and controls according to quantile distribution of controls. Nutrient consumption and relevant blood markers were directly or partially correlated in both populations. All known risk factors plus age, serum total cholesterol and triglycerides were used as covariates. The odds ratio values for the highest quantiles are: Dietary cholesterol, OR = 1.9 (1.1-3.4); total dietary lipids, OR = 1.9 (1.0-3.4); plasma vitamin E, OR = 4.2 (1.9-9.0); serum zinc, OR=12.2 (5.4-27.7); serum malonyl-di-aldehyde, OR=0.56 (0.33-0.97).

Published
1990

7. Le Charbon Humain En Belgique Observations Recentes Et Donnees Epidemiologiques

Author

Kocheleff P, Sternon J, Van de Weyer R, Heyne D, Jean-Paul Butzler, and Paulet P

Subjects
Penicillin, Pediatrics, medicine.medical_specialty, business.industry, medicine, General Medicine, business, Dermatology, humanities, medicine.drug
Abstract

SummaryAuthors are presenting and commenting three recently diagnosed cases of anthrax and an epidemiologic review of this disease in Belgium from 1956 to 1972.They insist on the requirements of antibiotherapy (penicillin in large doses for three weeks at least).

Published
1974

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