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1Academic Journal
المؤلفون: Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, Dominique Le Tessier, Armelle Luscan, Audrey Coustier, Raphael Porcher, Rakia Bhouri, Juliette Nectoux, Valérie Sérazin, Thibaut Quibel, Laurent Mandelbrot, Vassilis Tsatsaris, François Vialard, Jean-Michel Dupont
المصدر: PLoS ONE, Vol 11, Iss 5, p e0155009 (2016)
وصف الملف: electronic resource
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المؤلفون: Rakia Bhouri, Amira Sallem, Fadoua Neffati, Intissar Grissa, Zohra Haouas, Emna Kerkeni, Meriem Mehdi, Mohssen Hassine, Mohamed Fadhel Najjar, Lobna Ezzi, Hassen Ben Cheikh, Sana Chakroun
المصدر: Environmental Science and Pollution Research. 23:25191-25199
مصطلحات موضوعية: Male, 0301 basic medicine, Insecticides, Pyridines, Health, Toxicology and Mutagenesis, 010501 environmental sciences, Pharmacology, medicine.disease_cause, 01 natural sciences, Acetamiprid, Superoxide dismutase, Lipid peroxidation, Neonicotinoids, 03 medical and health sciences, chemistry.chemical_compound, Oral administration, Lactate dehydrogenase, medicine, Animals, Environmental Chemistry, Aspartate Aminotransferases, Rats, Wistar, 0105 earth and related environmental sciences, Hematologic Tests, L-Lactate Dehydrogenase, biology, Superoxide Dismutase, Alanine Transaminase, Organ Size, General Medicine, Alkaline Phosphatase, Catalase, Pollution, Rats, 030104 developmental biology, Liver, chemistry, Biochemistry, Toxicity, biology.protein, Lipid Peroxidation, Oxidative stress
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المؤلفون: Raphaël Porcher, Dominique Le Tessier, Valérie Serazin, François Vialard, Rakia Bhouri, Laurent Mandelbrot, Audrey Coustier, Laila El Khattabi, Armelle Luscan, Christelle Rouillac Le Sciellour, Juliette Nectoux, Vassilis Tsatsaris, Jean-Michel Dupont, Thibaut Quibel
المساهمون: Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Maternité Port-Royal [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de Biologie de la Reproduction, CHI Poissy-Saint-Germain, Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie et biologie moléculaire, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gamètes, implantation, gestation (GIG), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de Gynécologie Obstétrique, Hôpital Louis Mourier, Service de Gynécologie et Obstétrique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC), CHU Cochin [AP-HP], Institut Cochin (UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A 1125)), Institut National de la Recherche Agronomique (INRA) - Université Sorbonne Paris Cité (USPC) - Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Pathologie Cellulaire et Génétique (UPRES-EA2493), Bos, Mireille, Département de biologie de la reproduction et de gynécologie [CHIPS, Poissy], Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy]
المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2016, ⟨10.1371/journal.pone.0155009⟩
PLoS ONE, Vol 11, Iss 5, p e0155009 (2016)
PLoS ONE, Public Library of Science, 2016, 〈10.1371/journal.pone.0155009〉
PLoS ONE, 2016, ⟨10.1371/journal.pone.0155009⟩مصطلحات موضوعية: 0301 basic medicine, Chromosomes, Human, Pair 21, Maternal Health, lcsh:Medicine, Artificial Gene Amplification and Extension, Polymerase Chain Reaction, law.invention, Chromosomal Disorders, 0302 clinical medicine, Pregnancy, law, Prenatal Diagnosis, Medicine and Health Sciences, Digital polymerase chain reaction, lcsh:Science, Polymerase chain reaction, ComputingMilieux_MISCELLANEOUS, Genetics, 030219 obstetrics & reproductive medicine, Multidisciplinary, Chromosome Biology, Obstetrics and Gynecology, 3. Good health, Chromosome 21, Karyotypes, DNA Probes, Research Article, Down syndrome, Validation study, Computational biology, Biology, Research and Analysis Methods, Chromosomes, Cytogenetics, 03 medical and health sciences, Multiplex polymerase chain reaction, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Molecular Biology Techniques, Molecular Biology, Clinical Genetics, Trisomics, lcsh:R, Non invasive, Biology and Life Sciences, Reproducibility of Results, Cell Biology, DNA, Aneuploidy, Chromosome Pairs, medicine.disease, 030104 developmental biology, ROC Curve, Women's Health, lcsh:Q, Down Syndrome, Trisomy, Departures from Diploidy, Multiplex Polymerase Chain Reaction
وصف الملف: application/pdf
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المؤلفون: Dominique Bouret, Nino Guy Cassuto, Alexandre Rouen, Rakia Bhouri, Capucine Hyon, Jean Pierre Siffroi, Richard Balet, Sandra Chantot-Bastaraud, Nathalie Le Foll
المصدر: Fertility and Sterility. 96:826-832
مصطلحات موضوعية: Adult, Male, Heterozygote, endocrine system, Offspring, Robertsonian translocation, Chromosomal translocation, Biology, medicine.disease_cause, Translocation, Genetic, Human fertilization, Chromosome Segregation, medicine, Humans, In Situ Hybridization, Fluorescence, Infertility, Male, reproductive and urinary physiology, Retrospective Studies, medicine.diagnostic_test, urogenital system, Genetic Carrier Screening, Obstetrics and Gynecology, Chromosome, Karyotype, Spermatozoa, Sperm, Molecular biology, Reproductive Medicine, Fluorescence in situ hybridization
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المؤلفون: Rakia Bhouri, Alain Kitzis, Anu Bashamboo, Ken McElreavey, Frédéric Bilan, Capucine Hyon, Matthieu Peycelon, Brigitte Gilbert-Dussardier, Mathilde Sibony, Radu Harbuz, Sandra Rojo, X. Piguel, Jean-Pierre Siffroi, Nicolas Perrot, Sandra Chantot-Bastaraud
المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Maternité Port-Royal [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Tenon [AP-HP], Institut Pasteur [Paris] (IP), Service Endocrinologie [CHU Poitiers], Génétique du Développement humain - Human developmental genetics, We thank Joelle Bignon-Topalovic for technical assistance, Support for this work was provided by the Agence Nationale de la Recherche-GIS Institut des Maladies Rares (K.M.), March of Dimes Foundation Research Grant 1-FY07-490 (to K.M.), EuroDSD in the European Community’sSeventh Framework Programme FP7/2007–2013 under Grant 201444 (to K.M. and A.B.), European Project: 201444,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURODSD(2008), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Radiologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pathologie [CHU Tenon], Institut Pasteur [Paris], Génétique du développement humain, HAL-UPMC, Gestionnaire, Investigation of the molecular pathogenesis and pathophysiology of Disorders of Sex Development (DSD) - EURODSD - - EC:FP7:HEALTH2008-05-01 - 2011-10-31 - 201444 - VALID, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩مصطلحات موضوعية: Male, Gonad, Testicular Disorder, CNV, Disorders of Sex Development, [SDV.GEN] Life Sciences [q-bio]/Genetics, SOX9, Regulatory Sequences, Nucleic Acid, Biology, Regulatory region, 03 medical and health sciences, MESH: SOX9 Transcription Factor, SOX9 gene, Gene duplication, Genetics, medicine, XX DSD, Humans, MESH: Chromosome Aberrations, MESH: Regulatory Sequences, Nucleic Acid, Disorders of sex development, Gene, Genetics (clinical), 030304 developmental biology, regulatory element, Chromosome Aberrations, Azoospermia, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, 030305 genetics & heredity, SOX9 Transcription Factor, medicine.disease, MESH: Male, medicine.anatomical_structure, duplication, MESH: Disorders of Sex Development
وصف الملف: applicaton/octet-stream
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المؤلفون: Ines Zidi, Zohra Haouas, Monia Zaouali, Amira Sallem, Rakia Bhouri, Meriem Mehdi, Tesnim Ajina
المصدر: Journal of Cytology & Histology. 6
مصطلحات موضوعية: Andrology, TUNEL assay, Lead acetate, DNA damage, Parenchyma, Immunology, Assay, Cytotoxic T cell, DNA fragmentation, Biology, Reproductive toxicity