يعرض 1 - 10 نتائج من 13 نتيجة بحث عن '"Valentine Marquet"', وقت الاستعلام: 0.77s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

    المؤلفون: Radhia M’kacher, Bruno Colicchio, Claire Borie, Steffen Junker, Valentine Marquet, Leonhard Heidingsfelder, Kevin Soehnlen, Wala Najar, William M. Hempel, Noufissa Oudrhiri, Nadège Wilhelm-Murer, Marguerite Miguet, Micheline Arnoux, Catherine Ferrapie, Wendy Kerbrat, Andreas Plesch, Alain Dieterlen, Theodore Girinsky, Philippe Voisin, Georges Deschenes, Anne-Claude Tabet, Catherine Yardin, Annelise Bennaceur-Griscelli, Michael Fenech, Patrice Carde, Eric Jeandidier

    المصدر: Genes, Vol 11, Iss 5, p 475 (2020)

    مصطلحات موضوعية: telomere, centromere, dicentric chromosome, chromosomal instability, cancer, genetic syndrome, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2073-4425/11/5/475Test; https://doaj.org/toc/2073-4425Test

    الوصول الحر: https://doaj.org/article/c4406526e958448fa9678a68f639e0eeTest

    View record in DOAJ النص الكامل

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  2. 2
    Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

    المؤلفون: Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier

    المصدر: American journal of medical genetics. Part AREFERENCES. 191(1)

    مصطلحات موضوعية: Comparative Genomic Hybridization, Genetics, Microcephaly, Humans, Abnormalities, Multiple, Syndrome, Genetics (clinical), Genetic Association Studies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297518341b408746cfe5d30620728ccdTest
    https://pubmed.ncbi.nlm.nih.gov/36196855Test


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  3. 3
    Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility

    المؤلفون: Catherine Yardin, Anne-Claude Tabet, Michael Fenech, Wala Najar, Georges Deschenes, Claire Borie, Marguerite Miguet, Alain Dieterlen, Noufissa Oudrhiri, Radhia M'kacher, Valentine Marquet, Michael Grynberg, Leonhard Heidingsfelder, Nadège Wilhelm-Murer, Annelise Bennaceur-Griscelli, Steffen Junker, Bruno Colicchio, Philippe Voisin, Patrice Carde, William M. Hempel, Mustafa Al Jawhari, Eric Jeandidier

    المساهمون: M'kacher, Radhia, Colicchio, Bruno, Marquet, Valentine, Borie, Claire, Fenech, Michael, Yardin, Catherine

    المصدر: M'kacher, R, Colicchio, B, Marquet, V, Borie, C, Najar, W, Hempel, W M, Heidingsfelder, L, Oudrhiri, N, Al Jawhari, M, Wilhelm-Murer, N, Miguet, M, Dieterlen, A, Deschênes, G, Tabet, A-C, Junker, S, Grynberg, M, Fenech, M, Bennaceur-Griscelli, A, Voisin, P, Carde, P, Jeandidier, E & Yardin, C 2021, ' Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility ', Fertility and Sterility, vol. 115, no. 1, pp. 164-173 . https://doi.org/10.1016/j.fertnstert.2020.07.005Test

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Infertility, Oncology, medicine.medical_specialty, media_common.quotation_subject, Fertility, Young Adult, 03 medical and health sciences, Dicentric chromosome, 0302 clinical medicine, Chromosomal Instability, Internal medicine, Chromosome instability, chromosomal aberrations, Chromosome Duplication, medicine, Retrospective analysis, Humans, In patient, telomere doublets, In Situ Hybridization, Fluorescence, Telomere Shortening, Retrospective Studies, media_common, Chromosome Aberrations, 030219 obstetrics & reproductive medicine, business.industry, Outcome measures, Obstetrics and Gynecology, Middle Aged, Telomere, medicine.disease, excessive telomere shortening, 030104 developmental biology, Reproductive Medicine, Case-Control Studies, Cytogenetic Analysis, Female, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508e0d99b33b91e05002b4e393d26d11Test
    https://doi.org/10.1016/j.fertnstert.2020.07.005Test


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  4. 4
    Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases

    المؤلفون: Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon

    مصطلحات موضوعية: Oncology, medicine.medical_specialty, DNA Copy Number Variations, business.industry, High-Throughput Nucleotide Sequencing, Aneuploidy, Retrospective cohort study, medicine.disease, DNA sequencing, Internal medicine, Cohort, Genetics, medicine, Humans, Exome, Prospective Studies, Copy-number variation, business, Prospective cohort study, Genetics (clinical), Exome sequencing, Retrospective Studies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78Test
    https://doi.org/10.1101/2021.10.14.21264732Test


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  5. 5
    Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11

    المؤلفون: Q. Salardaine, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, A. Dobrescu, C. Yardin

    المساهمون: BIO-INGENIERIE (XLIM-BIO-INGENIERIE), XLIM (XLIM), Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)

    المصدر: Morphologie
    Morphologie, Elsevier Masson, 2019, 103, pp.116-121. ⟨10.1016/j.morpho.2019.02.002⟩

    مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 22, [SDV]Life Sciences [q-bio], Genetic counseling, Biology, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, DiGeorge syndrome, medicine, Humans, Medical history, Gene, Infertility, Male, Genetics, 030222 orthopedics, 0303 health sciences, Karyotype, medicine.disease, Phenotype, 3. Good health, 030301 anatomy & morphology, Karyotyping, Chromosomes, Human, Pair 6, Chromosome Deletion, Anatomy, Haploinsufficiency

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c103852b00fc545a4c1e70b3faae147bTest
    https://doi.org/10.1016/j.morpho.2019.02.002Test


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  6. 6
    Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

    المؤلفون: Wendy Kerbrat, Annelise Bennaceur-Griscelli, Philippe Voisin, Kevin Soehnlen, Wala Najar, Valentine Marquet, Marguerite Miguet, Andreas Plesch, Claire Borie, William M. Hempel, Nadège Wilhelm-Murer, Catherine Yardin, Anne-Claude Tabet, Noufissa Oudrhiri, Georges Deschenes, Michael Fenech, Bruno Colicchio, Micheline Fontaine Arnoux, Eric Jeandidier, Radhia M'kacher, Catherine Ferrapie, Alain Dieterlen, Theodore Girinsky, Leonhard Heidingsfelder, Patrice Carde, Steffen Junker

    المساهمون: M'kacher, Radhia, Colicchio, Bruno, Borie, Claire, Junker, Steffen, Fenech, Michael, Jeandidier, Eric

    المصدر: Genes
    Volume 11
    Issue 5
    M’kacher, R, Colicchio, B, Borie, C, Junker, S, Marquet, V, Heidingsfelder, L, Soehnlen, K, Najar, W, Hempel, W M, Oudrhiri, N, Wilhelm-Murer, N, Miguet, M, Arnoux, M, Ferrapie, C, Kerbrat, W, Plesch, A, Dieterlen, A, Girinsky, T, Voisin, P, Deschenes, G, Tabet, A C, Yardin, C, Bennaceur-Griscelli, A, Fenech, M, Carde, P & Jeandidier, E 2020, ' Telomere and centromere staining followed by m-fish improves diagnosis of chromosomal instability and its clinical utility ', Genes, vol. 11, no. 5, 475 . https://doi.org/10.3390/genes11050475Test
    Genes, Vol 11, Iss 475, p 475 (2020)

    مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, lcsh:QH426-470, chromosomal instability, Biology, Dicentric chromosome, Article, 03 medical and health sciences, 0302 clinical medicine, Chromosome instability, Neoplasms, Centromere, Genetics, medicine, Humans, cancer, Lymphocytes, genetic syndrome, Metaphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosome Aberrations, telomere, Cytogenetics, Cancer, Telomere, Middle Aged, dicentric chromosome, medicine.disease, lcsh:Genetics, 030104 developmental biology, centromere, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Cancer research, Medical genetics, Female, Genetic syndrome

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e01b6535156e46bc1fa6cc62b2d0903Test


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  7. 7
    Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

    المؤلفون: Dominique Bourgeois, Philippe De Mas, Laurence Bouneau, Romain Molignier, Patrick Calvas, Valentine Marquet, Adeline Vigouroux-Castera

    المساهمون: Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Clinique Saint-Jean Languedoc [Toulouse] (CSJL)

    المصدر: Clinical Case Reports
    Clinical Case Reports, Wiley, 2015, 3 (9), pp.757-761. ⟨10.1002/ccr3.313⟩

    مصطلحات موضوعية: Derivative chromosome, Case Reports, Biology, partial monosomy 21, insertion, 03 medical and health sciences, Chromosome 15, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, medicine, chromosome, deletion, Azoospermia, 030304 developmental biology, Chromosome 7 (human), Genetics, 0303 health sciences, 030305 genetics & heredity, Karyotype, deletion, chromosome, General Medicine, medicine.disease, chromosome 22, karyotype, Chromosome 17 (human), chromosome 21, Chromosome 21, Chromosome 22

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fe3089056e6a0719897eb0c9e890aaTest
    https://doi.org/10.1002/ccr3.313Test


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  8. 8
    Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation

    المؤلفون: Catherine Yardin, Sylvie Bourthoumieu, Cécile Laroche-Raynaud, Amelia Dobrescu, Valentine Marquet

    المساهمون: Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Centre de recherche de l'hôpital Sainte Justine, CHU Sainte Justine [Montréal], Service d'Histologie, cytologie, cytogénétique, biologie cellulaire [CHU Limoges], CHU Limoges, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT]

    المصدر: European Journal of Medical Genetics
    European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.583-588. ⟨10.1016/j.ejmg.2017.08.009⟩

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Chromosome engineering, [SDV]Life Sciences [q-bio], Chromosome Disorders, Chromosome 9, Chromosomal translocation, Chromosomal rearrangement, Biology, Translocation, Genetic, Chromosome Breakpoints, 03 medical and health sciences, Chromosome Duplication, Gene duplication, Genetics, Humans, Global developmental delay, Child, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Breakpoint, Infant, General Medicine, Telomere, Microdeletion syndrome, Pedigree, Phenotype, 030104 developmental biology, Chromosomes, Human, Pair 1, Female

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a966b6bfa323da84902a008f72629eTest
    https://hal.archives-ouvertes.fr/hal-02436894Test


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  9. 9
    « Test ADNlc T21 » ou test génétique non invasif de dépistage de la trisomie 21 fœtale : à propos d’un consortium d’utilisateurs

    المؤلفون: François Vialard, Cédric Le Caignec, Martine Doco-Fenzy, Nora Chelloug, Bertrand Mace, Henri Copin, Vincent Gatinois, Valentine Marquet, Patrick Callier, Paul Kuentz, Laetitia Gouas, Philippe Vago

    المصدر: Morphologie. 102:140-141

    مصطلحات موضوعية: Anatomy

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::574aade485dc8fcdaaa26086a33ccc99Test
    https://doi.org/10.1016/j.morpho.2018.07.124Test


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  10. 10
    Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation

    المؤلفون: Harmonie Barasc, Annabelle Congras, Nicolas Mary, Lidwine Trouilh, Valentine Marquet, Stéphane Ferchaud, Isabelle Raymond-Letron, Anne Calgaro, Anne-Marie Loustau-Dudez, Nathalie Mouney-Bonnet, Hervé Acloque, Alain Ducos, Alain Pinton

    المساهمون: Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Laboratoire d'Ingénierie des Systèmes Biologiques et des Procédés (LISBP), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Recherche Agronomique (INRA), UE 1372 Génétique, Expérimentation et Système Innovants, Institut National de la Recherche Agronomique (INRA)-Génétique animale (G.A.)-Physiologie Animale et Systèmes d'Elevage (PHASE), Institut National de la Recherche Agronomique (INRA)-Génétique, Expérimentation et Système Innovants (GenESI), STROMALab, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement Français du Sang-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées, Centre National de la Recherche Scientifique (CNRS), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT], Génétique, Expérimentation et Système Innovants (GenESI), Institut National de la Recherche Agronomique (INRA), Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Etablissement Français du Sang-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement Français du Sang-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT), Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées-Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), ProdInra, Archive Ouverte

    المصدر: 22. International Colloquium on Animal Cytogenetics and Genomics (ICACG)
    22. International Colloquium on Animal Cytogenetics and Genomics (ICACG), Jul 2016, Toulouse, France. INRA-INP-ENVT, 24 (S1), 116 p., 2016, Chromosome Research
    Chromosome Research
    Chromosome Research, Springer Verlag, 2016, 24 (4), pp.511-527. ⟨10.1007/s10577-016-9533-9⟩
    22. International Colloquium on Animal Cytogenetics and Genomics (ICACG), Jul 2016, Toulouse, France. INRA-INP-ENVT, Chromosome Research, 24 (S1), 116 p., 2016, Chromosome Research
    Chromosome Research, 2016, 24 (4), pp.511-527. ⟨10.1007/s10577-016-9533-9⟩
    22nd International Colloquim on Animal Cytogenetics and Genomics. (24 (S1))2016; 22. International Colloquium on Animal Cytogenetics and Genomics (ICACG), Toulouse, FRA, 2016-07-02-2016-07-05, S10-S10

    مصطلحات موضوعية: 0301 basic medicine, Male, endocrine system, X Chromosome, [SDV]Life Sciences [q-bio], Sus scrofa, reciprocal translocation, Gene Expression, meiotic, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Spermatocytes, Testis, Genetics, Animals, meiosis, 030212 general & internal medicine, chromosome, gene, Infertility, Male, Sex Chromosome Aberrations, urogenital system, msci distrubance, genetic, Spermatozoa, recombination, [SDV] Life Sciences [q-bio], Chromosome Pairing, 030104 developmental biology, msuc, Erratum, infertility

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea4a52f94c8e7d6f0b7ec45d0eab49f7Test
    https://hal.archives-ouvertes.fr/hal-01886399Test


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