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: 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: Frédéric Brioude, Jérôme Bouligand, Bruno Francou, Jérôme Fagart, Ronan Roussel, Say Viengchareun, Laurent Combettes, Sylvie Brailly-Tabard, Marc Lombès, Jacques Young, Anne Guiochon-Mantel

المصدر: PLoS ONE, Vol 8, Iss 1, p e53896 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3548821?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/40b7198a37f6439d9dc1cd1d50c97c53Test

المؤلفون: Yves Le Bouc, Frédéric Brioude, Tony Yuen, Walid Abi Habib, James T. Bennett, Madeleine D. Harbison, Thomas Edouard, Jennifer Salem, Frédérique Tixier, Anne Lienhardt-Roussie, Salah Azzi, Irène Netchine

المساهمون: 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], University of Washington [Seattle], CHU Limoges, Hôpital Debrousse, Hospices Civils de Lyon (HCL), Icahn School of Medicine at Mount Sinai [New York] (MSSM), HAL UPMC, Gestionnaire, 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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, medicine.disease_cause, Epigenesis, Genetic, fetal growth restriction, Genotype, Original Research Article, Growth Charts, Genetics (clinical), Genetics, Regulation of gene expression, Mutation, Fetal Growth Retardation, biology, IGF2, Gene Expression Regulation, Developmental, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Pedigree, 3. Good health, DNA-Binding Proteins, Female, Signal Transduction, HMGA2, Genetic counseling, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Models, Biological, Cell Line, Silver–Russell syndrome, 03 medical and health sciences, Insulin-Like Growth Factor II, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Genetic Association Studies, PLAG1, Whole Genome Sequencing, HMGA2 Protein, Facies, Genetic Variation, medicine.disease, Silver-Russell Syndrome, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9450df7f9884338d7e075047b83c027Test
https://doi.org/10.1038/gim.2017.105Test

المؤلفون: Tania Attié-Bitach, Pierre-Simon Jouk, Frédéric Brioude, Judith Melki, Sophie Julia, Abdelaziz Sefiani, Sophie Naudion, Stephen Stamm, Jennifer Fabre-Teste, Christine Francannet, Sébastien Mur, Muriel Holder-Espinasse, Nicole Revencu, Tiffany Busa, Marine Legendre, Alain Kitzis, Stanislas Lyonnet, Jeanne Amiel, Frédéric Bilan, Patricia Blanchet, Yassamine Doubaj, Massimiliano Rossi, Brigitte Gilbert-Dussardier, Marie-Ange Delrue, Montserrat Rodríguez-Ballesteros, Véronique Abadie

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: European Journal of Human Genetics, Vol. 26, no. 2, p. 287-292 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Sequence analysis, In silico, Computational biology, Biology, Real-Time Polymerase Chain Reaction, Brief Communication, 03 medical and health sciences, CHARGE syndrome, 0302 clinical medicine, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), DNA Helicases, Genetic disorder, Computational Biology, Sequence Analysis, DNA, medicine.disease, DNA-Binding Proteins, RNA Splice Sites, 030104 developmental biology, Chd7 gene, Mutation, RNA splicing, CHARGE Syndrome, 030217 neurology & neurosurgery, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c2a5056427b4862b6cb6c4ff53a9b0Test
https://doi.org/10.1038/s41431-017-0007-0Test

المؤلفون: Luciano Calzari, Sara Guzzetti, Silvia Russo, Daniela Melis, Frédéric Brioude, Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Karen Temple, Angelo Selicorni, Claudia Izzi, Eamonn R. Maher, Irène Netchine, Thomas Eggermann

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), University of Southampton, University of Amsterdam [Amsterdam] (UvA), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Civic Hospital of Brescia, Università degli studi di Napoli Federico II, University of Cambridge [UK] (CAM), NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, Sorbonne Université (SU), 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH)

المصدر: Genetical research, 101. Cambridge University Press
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X

مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Bioinformatics, Chromosomes, 03 medical and health sciences, parasitic diseases, Genetics, medicine, Short Paper, Humans, Genetic Predisposition to Disease, Genetic Testing, Imprinting (psychology), Medical diagnosis, Pair 11, 030304 developmental biology, Genetic testing, Beckwith wiedemann, 0303 health sciences, molecular testing, medicine.diagnostic_test, business.industry, Chromosomes, Human, Pair 11, Silver–Russell syndrome, 030305 genetics & heredity, General Medicine, DNA Methylation, medicine.disease, unexpected results, 3. Good health, Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Phenotype, Silver-Russell Syndrome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA methylation, Anxiety, medicine.symptom, business, Human

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e6e9691c2c46c1c6b65fa268d72665Test
https://pure.amc.nl/en/publications/discrepant-molecular-and-clinical-diagnoses-in-beckwithwiedemann-and-silverrussell-syndromesTest(fd6f1f5d-b912-4493-b624-1e227ebeea2c).html