المؤلفون: Céline Sélénou, Frédéric Brioude, Eloïse Giabicani, Marie-Laure Sobrier, Irène Netchine

المصدر: Cells; Volume 11; Issue 12; Pages: 1886

مصطلحات موضوعية: IGF2, growth, Silver–Russell syndrome, Beckwith–Wiedemann syndrome, parental imprinting

وصف الملف: application/pdf

العلاقة: Cellular Aging; https://dx.doi.org/10.3390/cells11121886Test

الإتاحة: https://doi.org/10.3390/cells11121886Test

المؤلفون: Aurelie Pham, Delphine Mitanchez, Anne Forhan, Laurence Perin, Yves Le Bouc, Frederic Brioude, Marie-Laure Sobrier, Barbara Heude, Irene Netchine

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: DLK1, small for gestational age (SGA), fetal growth restriction, placental vascular dysfunction, biomarker, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.836731/fullTest; https://doaj.org/toc/1664-2392Test; https://doaj.org/article/54434e9b12d244b4afc959af61b29a70Test

الإتاحة: https://doi.org/10.3389/fendo.2022.836731Test
https://doaj.org/article/54434e9b12d244b4afc959af61b29a70Test

المؤلفون: Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann

المصدر: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Maternal uniparental Disomy 7, Formation mechanism, Chromosome 7, Trisomic rescue, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13039-017-0329-1Test; https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/84c97e1f32fb43759434f5e53211c1a6Test

المؤلفون: Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: Beckwith-Wiedemann syndrome, IGF1 receptor, IGF-II, fetal growth restriction, imprinting disease, 11p duplication, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fendo.2019.00263/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/90c82a8e25934b0eacab6d906a29c214Test

المؤلفون: Aurélie Pham, Frédéric Brioude, Marilyne Le Jules Fernandes, Marie-Laure Sobrier, Eloise Giabicani, Irène Netchine, Delphine Mitanchez

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Genetics, Chromosome 7 (human), Silver–Russell syndrome, Calcium-Binding Proteins, Infant, Newborn, Membrane Proteins, Chromosome, Biology, medicine.disease, Phenotype, Article, Silver-Russell Syndrome, Infant, Small for Gestational Age, Mutation, medicine, Humans, Small for gestational age, Female, Imprinting (psychology), Allele, Genomic imprinting, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f543d2a7a3de94e626ecad1b7bbeb6Test
https://doi.org/10.1038/s41431-021-00927-5Test

المؤلفون: Anne Bachelot, Rahaf Haj Hamid, Anna Ly, Frédéric Brioude, Nathalie Sermondade, Laila El Khattabi, Marie Prades, Rachel Levy, Charlotte Dupont, Isabelle Berthaut

المساهمون: CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], 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 d'explorations fonctionnelles [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Centre de référence des maladies endocriniennes rares de la croissance et du développement [CHU Pitié-Salpêtrière], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Gestionnaire, Hal Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Service d'Endocrinologie et Médecine de la Reproduction [CHU Pitié-Salpêtrière], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

المصدر: Journal of Gynecology Obstetrics and Human Reproduction
Journal of Gynecology Obstetrics and Human Reproduction, Elsevier, 2021, 50 (9), pp.102177. ⟨10.1016/j.jogoh.2021.102177⟩
Journal of Gynecology Obstetrics and Human Reproduction, 2021, 50 (9), pp.102177. ⟨10.1016/j.jogoh.2021.102177⟩

مصطلحات موضوعية: Male, medicine.medical_specialty, endocrine system, fertility preservation, [SDV]Life Sciences [q-bio], Context (language use), Male infertility, Young men, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Fertility preservation, Klinefelter syndrome, Infertility, Male, reproductive and urinary physiology, Azoospermia, sperm collection, 030219 obstetrics & reproductive medicine, Obstetrics, Sperm Collection, business.industry, urogenital system, Obstetrics and Gynecology, medicine.disease, Sperm, Testicular sperm extraction, 3. Good health, [SDV] Life Sciences [q-bio], Reproductive Medicine, 030220 oncology & carcinogenesis, TESE, adolescent, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ca953e242e251a1f008e197bcd9e04Test
https://hal.sorbonne-universite.fr/hal-03263414Test

المؤلفون: Frédéric Brioude, Edouard Cottereau, Marie-Pierre Moizard, Annick Toutain, Marie-Laure Vuillaume, Alessandra Baumer, Anita Rauch

المساهمون: University of Zurich, Toutain, Annick

المصدر: European Journal of Human Genetics. 27:663-668

مصطلحات موضوعية: Heart Defects, Congenital, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, 610 Medicine & health, Disease, Biology, Gigantism, 03 medical and health sciences, Glypicans, 1311 Genetics, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), Genetic testing, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Chromosome, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Simpson–Golabi–Behmel syndrome, medicine.disease, Phenotype, Clinical Utility Gene Card, Mutation, Clinical validity, 570 Life sciences, biology, Female

وصف الملف: s41431-019-0339-z.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a39bdf59c80ea64f61a2362d28c0d0Test
https://doi.org/10.1038/s41431-019-0339-zTest

المؤلفون: Maryse Bonnière, Philippe Roth, Michel Vekemans, Frédéric Brioude, Delphine Héron, Bettina Bessières, Aurélie Beaufrère, Irène Netchine, Julia Tantau, Antoinette Gelot, Elodie Schaerer, Ferechté Razavi, Tania Attié-Bitach

المصدر: Fetal and Pediatric Pathology. 37:411-417

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Fetus, Beckwith-Wiedemann Syndrome, business.industry, Beckwith–Wiedemann syndrome, General Medicine, Anatomy, Corpus callosum, medicine.disease, Pathology and Forensic Medicine, body regions, 03 medical and health sciences, 030104 developmental biology, Posterior fossa malformations, Overgrowth syndrome, Pediatrics, Perinatology and Child Health, Humans, Medicine, Femur, Agenesis of Corpus Callosum, business, Short femur

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a41780261c6ff5a67238b69aca4a7cTest
https://doi.org/10.1080/15513815.2018.1520942Test

المؤلفون: Lucie Gaillot-Durand, Jérôme Massardier, Frédérique Le Breton, Fabienne Allias, Frédéric Brioude, Mojgan Devouassoux-Shisheboran, Claire Beneteau, Lucas Michon

المصدر: Fetal and Pediatric Pathology. 37:387-399

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Genotype, Placenta, Beckwith–Wiedemann syndrome, Molecular heterogeneity, Placental Mesenchymal Dysplasia, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Placental pathology, Humans, Pathological, Genetic Association Studies, Retrospective Studies, business.industry, Chorangioma, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810a4410c8d60f24ae8bc540155221b1Test
https://doi.org/10.1080/15513815.2018.1504842Test

المؤلفون: Eloise Giabicani, Aurélie Pham, Frédéric Brioude, Irène Netchine, Delphine Mitanchez

المصدر: Best Practice & Research Clinical Endocrinology & Metabolism. 32:523-534

مصطلحات موضوعية: Male, 0301 basic medicine, Genetic syndromes, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Pregnancy, Global health, medicine, Fetal growth, Humans, Epigenetics, Child, Fetal Growth Retardation, business.industry, Silver–Russell syndrome, Disease Management, medicine.disease, 030104 developmental biology, Etiology, Small for gestational age, Female, business, Perinatal period

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f96257f51e8194a8769f2b8209d66b8Test
https://doi.org/10.1016/j.beem.2018.03.013Test