المؤلفون: Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan

المصدر: Basic and Clinical Andrology, Vol 28, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Unexplained recurrent pregnancy loss, Fluorescence in situ hybridization, Sperm aneuploidy, Sperm DNA fragmentation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12610-018-0070-6; https://doaj.org/toc/2051-4190

URL الوصول: https://doaj.org/article/2cfad419664e4e60afe4bc7b978883e6

المؤلفون: Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Geneviève Gourdon, Stéphanie Tomé

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2616 (2021)

مصطلحات موضوعية: myotonic dystrophy type 1, long read sequencing, somatic mosaicism, interrupted CTG repeat expansion, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/5/2616; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/e92175841b064964bae67769779c1a8c

المؤلفون: Linda Akloul, Eva Toussaint, Nicolas Taris, Virginie Dorian, Pauline Roche, Edouard Lhomme, Laetitia Monteil, Didier Lacombe, Aline Maillard, Emmanuelle Haquet, Laurent Pasquier, Laura Richert, Christophe Cordier, Cécile Zordan

المصدر: Journal of Community Genetics. 10:489-499

مصطلحات موضوعية: medicine.medical_specialty, Interview, Epidemiology, media_common.quotation_subject, Genetic counseling, education, 03 medical and health sciences, 0302 clinical medicine, medicine, health care economics and organizations, Genetics (clinical), media_common, 0303 health sciences, Medical education, Health professionals, Public health, 030305 genetics & heredity, Public Health, Environmental and Occupational Health, Bioethics, humanities, 3. Good health, Feeling, 030220 oncology & carcinogenesis, Anxiety, Original Article, medicine.symptom, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e9f3378d08d577dcfb0e13e61cbe710
https://doi.org/10.1007/s12687-019-00418-7

المؤلفون: Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Strasbourg, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital de la Colombière, CHU de Bordeaux Pellegrin [Bordeaux], Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Les Hôptaux universitaires de Strasbourg (HUS), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre hospitalier Saint-Brieuc, Salvy-Córdoba, Nathalie

المصدر: Scientific Reports
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, MESH: Trophoblasts, Molecular biology, lcsh:Medicine, Diseases, Disease, Cell Separation, 0302 clinical medicine, Trinucleotide Repeats, Prenatal Diagnosis, lcsh:Science, MESH: High-Throughput Nucleotide Sequencing, Genetics, Whole Genome Amplification, 030219 obstetrics & reproductive medicine, Multidisciplinary, Molecular medicine, High-Throughput Nucleotide Sequencing, Trophoblasts, Huntington Disease, Microsatellite, Single-Cell Analysis, Biotechnology, MESH: Trinucleotide Repeats, Cell biology, Prenatal diagnosis, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Cell Separation, Article, 03 medical and health sciences, Medical research, Fetus, Multiplex polymerase chain reaction, Humans, Allele, MESH: Prenatal Diagnosis, Genotyping, MESH: Humans, Point mutation, lcsh:R, Health care, MESH: Fetus, MESH: Huntington Disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Feasibility Studies, lcsh:Q, MESH: Feasibility Studies, MESH: Single-Cell Analysis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebe4f6b46e24a815ff56ed8a16e2bd2
http://europepmc.org/articles/PMC7300110

المؤلفون: François Isus, B. Delaunay, Isabelle Fauquet, Safouane M. Hamdi, Eric Huyghe, Myriam Daudin, Louis Bujan, Roger Mieusset, Eric Bieth, Laetitia Monteil

المصدر: AndrologyREFERENCES. 8(3)

مصطلحات موضوعية: Infertility, Adult, Male, medicine.medical_specialty, Urology, Endocrinology, Diabetes and Metabolism, Cystic Fibrosis Transmembrane Conductance Regulator, urologic and male genital diseases, Cystic fibrosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Vas Deferens, Male Urogenital Diseases, Pregnancy, medicine, Humans, Infertility, Male, Azoospermia, Retrospective Studies, 030219 obstetrics & reproductive medicine, biology, Sperm Count, business.industry, Vas deferens, Oligospermia, Middle Aged, medicine.disease, Sperm, Cystic fibrosis transmembrane conductance regulator, Inguinal hernia, medicine.anatomical_structure, Reproductive Medicine, biology.protein, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bcea46b255e292ecb266557cc56d742
https://pubmed.ncbi.nlm.nih.gov/31872980

المؤلفون: Laetitia Monteil, Stéphanie Tomé, John Harting, Cheryl Heiner, Sandra Mercier, Yu-Chih Tsai, Pierre Boisseau, Mathilde Nizon, Janet Ziegle, Geneviève Gourdon, Laure de Pontual, Antoine Mangin

المساهمون: Cardiff University, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Pacific Biosciences of California, CHU Toulouse [Toulouse], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Physiopathologie et pharmacologie cellulaires et moléculaires, Université de Nantes (UN)-IFR26-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Gourdon, Geneviève, Centre de Recherche en Myologie

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 2616, p 2616 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩
International Journal of Molecular Sciences, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩
Volume 22
Issue 5

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Somatic cell, Genetic counseling, Locus (genetics), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 030105 genetics & heredity, Biology, Myotonic dystrophy, Article, Catalysis, lcsh:Chemistry, Inorganic Chemistry, 03 medical and health sciences, medicine, Humans, Myotonic Dystrophy, Physical and Theoretical Chemistry, Allele, myotonic dystrophy type 1, lcsh:QH301-705.5, Molecular Biology, Spectroscopy, Sequence (medicine), Genetics, long read sequencing, Mosaicism, Organic Chemistry, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Trinucleotide repeat disorder, medicine.disease, Molecular diagnostics, 3. Good health, Computer Science Applications, somatic mosaicism, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, lcsh:Biology (General), lcsh:QD1-999, Female, Trinucleotide Repeat Expansion, interrupted CTG repeat expansion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0451b4e1f5f357cd4773cdf7286bd874
https://doi.org/10.3390/ijms22052616

المؤلفون: Stanislas Faguer, Aurore Siegfried, Valérie Mitchell, Roger Mieusset, Guy Lalau, Laetitia Monteil, Jean-Marc Rigot, Olivier Patat, V. Gaston, François Marcelli, Nicolas Chassaing, Monique Courtade-Saïdi, A. Pagin, Eric Bieth, Louis Bujan

المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Toxicologie et Génopathies [CHRU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Gamétogenèse et Qualité du Gamète - ULR 4308 (GQG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille, Département de Néphrologie et Transplantation d'organes, Hôpital de Rangueil, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Groupe de recherche en fertilité humaine ( GRFH), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Hôpital Albert Calmette, Hôpital Paule de Viguier, Hôpital Purpan [Toulouse], Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Néphrologie et Transplantation d'organes [CHU Toulouse], Pôle Urologie - Néphrologie - Dialyse - Transplantations - Brûlés - Chirurgie plastique - Explorations fonctionnelles et physiologiques [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.437-442. ⟨10.1016/j.ajhg.2016.06.012⟩
American Journal of Human Genetics, 2016, 99 (2), pp.437-442. ⟨10.1016/j.ajhg.2016.06.012⟩

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, MESH: Exome / genetics, Cystic Fibrosis Transmembrane Conductance Regulator, Obstructive azoospermia, Bioinformatics, Receptors, G-Protein-Coupled, Pathogenesis, Vas Deferens, 0302 clinical medicine, Male Urogenital Diseases, Genes, X-Linked, Genetics(clinical), Exome, MESH: DNA Mutational Analysis, Genetics (clinical), 030219 obstetrics & reproductive medicine, Vas deferens, MESH: Genes, X-Linked / genetics, Cystic fibrosis transmembrane conductance regulator, Pedigree, medicine.anatomical_structure, Female, Infertility, medicine.medical_specialty, MESH: Pedigree, Genetic counseling, Biology, 03 medical and health sciences, Report, Internal medicine, Genetics, medicine, Humans, MESH: Vas Deferens / abnormalities, MESH: Humans, MESH: Receptors, G-Protein-Coupled / genetics, MESH: Male Urogenital Diseases / genetics, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, MESH: Gene Deletion, medicine.disease, MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Male, 030104 developmental biology, Endocrinology, biology.protein, MESH: Female, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a95b8993b4b0cc0a1936deeaaabcea
https://doi.org/10.1016/j.ajhg.2016.06.012

المؤلفون: Antoine Huart, Isabelle Fauquet, François Isus, Eric Bieth, Dominique Chauveau, Roger Mieusset, M. Daudin, Laetitia Monteil, Stanislas Faguer, Patrick Calvas, Cathy Prouheze, Louis Bujan, Nicolas Chassaing

المساهمون: Hôpital Paule de Viguier, CHU Toulouse [Toulouse], Groupe de recherche en fertilité humaine ( GRFH), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Clinique Pasteur, Clinique Pasteur [Toulouse], Université Fédérale Toulouse Midi-Pyrénées, Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, Hôpital de Rangueil, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Néphrologie et Transplantation d'organes, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]

المصدر: Journal of Nephrology
Journal of Nephrology, Italian Society of Nephrology/Springer, 2017, 30 (2), pp.211-218. ⟨10.1007/s40620-016-0286-5⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Nephrology, HNF1B, Pregnancy Rate, 030232 urology & nephrology, Reproductive technology, MESH: Risk Assessment, Kidney, urologic and male genital diseases, Gastroenterology, Male infertility, MESH: Pregnancy, Vas Deferens, 0302 clinical medicine, MESH: Polycystic Kidney, Autosomal Dominant / physiopathology, Male Urogenital Diseases, MESH: Risk Factors, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, Risk Factors, MESH: Infertility, Male* / epidemiology, Prevalence, Polycystic kidney disease, MESH: Vas Deferens / physiopathology, Medicine, Absence of vas deferens, MESH: Kidney / abnormalities, MESH: Treatment Outcome, MESH: Pregnancy Rate, MESH: France / epidemiology, MESH: Middle Aged, MESH: Polycystic Kidney, Autosomal Dominant / therapy, MESH: Genetic Predisposition to Disease, MESH: Male Urogenital Diseases / therapy, Middle Aged, MESH: Hepatocyte Nuclear Factor 1-beta / genetics, Polycystic Kidney, Autosomal Dominant, 3. Good health, MESH: Reproductive Techniques, Assisted, Phenotype, Treatment Outcome, medicine.anatomical_structure, MESH: Fertility / genetics, MESH: Live Birth, Female, France, MESH: Kidney / physiopathology, MESH: Genetic Counseling, MESH: Tomography, X-Ray Computed, MESH: Infertility, Male* / diagnosis, Live Birth, Adult, Infertility, medicine.medical_specialty, MESH: Mutation, Reproductive Techniques, Assisted, Renal disease, Genetic Counseling, MESH: Male Urogenital Diseases / physiopathology, MESH: Phenotype, Risk Assessment, Nephropathy, 03 medical and health sciences, MESH: Male Urogenital Diseases / epidemiology, Internal medicine, MESH: Polycystic Kidney, Autosomal Dominant / genetics, Humans, Genetic Predisposition to Disease, MESH: Prevalence, Infertility, Male, ADPKD, Hepatocyte Nuclear Factor 1-beta, Retrospective Studies, MESH: Vas Deferens / abnormalities, Azoospermia, Gynecology, MESH: Infertility, Male* / genetics, MESH: Humans, business.industry, MESH: Male Urogenital Diseases / genetics, MESH: Adult, MESH: Retrospective Studies, MESH: Infertility, Male* / physiopathology, medicine.disease, MESH: Male, Fertility, 030104 developmental biology, Mutation, MESH: Polycystic Kidney, Autosomal Dominant / epidemiology, Tomography, X-Ray Computed, business, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e58d8809ae18fc6b95e49420a8f5cca
https://doi.org/10.1007/s40620-016-0286-5

المؤلفون: Mathilde Cambron-Goulet, Laetitia Monteils-Laeng

المصدر: Cahiers des Études Anciennes, Vol 55, Pp 7-16 (2018)

مصطلحات موضوعية: vieillesse, sagesse, déchéance, vieillard, History of the Greco-Roman World, DE1-100, Ancient history, D51-90

وصف الملف: electronic resource

Relation: http://journals.openedition.org/etudesanciennes/1030; https://doaj.org/toc/0317-5065; https://doaj.org/toc/1923-2713

URL الوصول: https://doaj.org/article/768c91b89e1e42c189887ae4657883a0

المؤلفون: Laetitia Monteils-Laeng

المصدر: Études Platoniciennes, Vol 9, Pp 202-206 (2012)

مصطلحات موضوعية: Philosophy (General), B1-5802

وصف الملف: electronic resource

Relation: http://journals.openedition.org/etudesplatoniciennes/302; https://doaj.org/toc/2275-1785

URL الوصول: https://doaj.org/article/e01b5c9e1e744903be750e7dc9d56ce2