المؤلفون: Claire Personnier, Sandra Chantot-Bastaraud, Walid Abi Habib, Cristina Das Neves, Jennifer Salem, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine, Frédéric Brioude, Boris Keren, Salah Azzi

المصدر: Human Mutation. 38:105-111

مصطلحات موضوعية: Male, 0301 basic medicine, Gene Expression, 030105 genetics & heredity, Biology, Genomic Imprinting, 03 medical and health sciences, Insulin-Like Growth Factor II, parasitic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Imprinting (psychology), Allele, Enhancer, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Fetus, Chromosomes, Human, Pair 11, Silver–Russell syndrome, Methylation, DNA Methylation, Fibroblasts, medicine.disease, female genital diseases and pregnancy complications, Pedigree, Silver-Russell Syndrome, Child, Preschool, Overgrowth syndrome, DNA methylation, Female, RNA, Long Noncoding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a9fdb86ef05e60fd983b98f7b23cfaTest
https://doi.org/10.1002/humu.23131Test

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

المؤلفون: Sylvie Rossignol, Walid Abi Habib, Sophie Geoffron, Salah Azzi, Béatrice Dubern, Sandra Chantot-Bastaraud, Isabelle Oliver Petit, Thuy-Ai Vu-Hong, Marie-Noelle Dufourg, Ana Pinheiro Machado Canton, Catherine Pienkowski, Jennifer Salem, Blandine Esteva, Fanny Morice Picard, Bertrand Isidor, Nicole Philip, Frédéric Brioude, Alexandra Afenjar, Julien Thevenon, David Geneviève, Mélanie Fradin, Marlène Rio, Catherine Naud-Saudreau, Irène Netchine, Maithé Tauber, Christel Chalouhi, Tiffanny Busa, Virginie Steunou, Eloise Giabicani, Solveig Heide, Agnès Linglart, Madeleine D. Harbison

المساهمون: 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [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 Pitié-Salpêtrière [AP-HP], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidade de São Paulo Medical School (FMUSP), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, Université de Montpellier (UM), Centre hospitalier universitaire de Nantes (CHU Nantes), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Thérapie génique, Génomique et Epigénomique (U 1169), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Université de Bretagne Sud - Lorient (UBS Lorient), Université de Bretagne Sud (UBS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale [CHU Necker], Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Axe 3 : organisation structurale multiéchelle des matériaux (SPCTS-AXE3), Science des Procédés Céramiques et de Traitements de Surface (SPCTS), Université de Limoges (UNILIM)-Ecole Nationale Supérieure de Céramique Industrielle (ENSCI)-Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Ecole Nationale Supérieure de Céramique Industrielle (ENSCI)-Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre de Référence du Syndrome de Prader-Willi, Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Institut National de la Santé et de la Recherche Médicale (INSERM), 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], Unité de recherche sur les maladies cardiovasculaires et métaboliques, UMR S 1166, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité Fonctionnelle de Génétique Clinique [CHU Pitié Salpétrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service d'ORL et de Chirurgie Cervicofaciale, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Hôpital des Enfants, CHU Toulouse [Toulouse], Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Ecole Nationale Supérieure de Céramique Industrielle (ENSCI)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Ecole Nationale Supérieure de Céramique Industrielle (ENSCI)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM), Service de Génétique et d'Embryologie Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Unité Fonctionnelle de Génétique Clinique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Centre de référence 'Déficiences Intellectuelles de Causes Rares' - Paris-Groupe de Recherche Clinique 'Déficience Intellectuelle et Autisme' - Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Ined Inserm joint unit Elfe, Hôpital Arnaud de Villeneuve, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Service d'endocrinologie et diabétologie pédiatriques - Le Kremlin-Bicêtre, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), MAGIC Foundation

المصدر: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Puberty, Precocious, Chromosome Disorders, Biochemistry, Pubarche, Endocrinology, Young adult, Child, 2. Zero hunger, MEG3, Syndrome, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Uniparental disomy, 3. Good health, Phenotype, Child, Preschool, DNA methylation, Intercellular Signaling Peptides and Proteins, Female, RNA, Long Noncoding, Chromosome Deletion, Adult, medicine.medical_specialty, Adolescent, Diagnosis, Differential, 03 medical and health sciences, Genomic Imprinting, Young Adult, Internal medicine, parasitic diseases, medicine, Humans, Retrospective Studies, Chromosomes, Human, Pair 14, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Silver–Russell syndrome, Biochemistry (medical), Calcium-Binding Proteins, Chromosome, Membrane Proteins, DNA Methylation, Uniparental Disomy, medicine.disease, Silver-Russell Syndrome, 030104 developmental biology, business, Body mass index

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8894e7da80c871defde2fe83383cf6Test
https://hal.science/hal-01926795Test

المؤلفون: Raoul C.M. Hennekam, Yves Le Bouc, Giovanni Battista Ferrero, Eamonn R. Maher, Irène Netchine, Deborah J G Mackay, Christian P. Kratz, Alessandro Mussa, Thomas Eggermann, Frédéric Brioude, Jet Bliek, Saskia M. Maas, Carole Coze

المساهمون: APH - Quality of Care, Paediatric Genetics, Human Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: European journal of human genetics, 26, 471-472. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Beckwith-Wiedemann Syndrome, business.industry, Wilms tumour, Beckwith–Wiedemann syndrome, DNA Methylation, Genomic Imprinting, Humans, Methylation, Wilms Tumor, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Correspondence, DNA methylation, Genetics, Cancer research, Medicine, business, Genomic imprinting, Genetics (clinical)

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5bea0221d5d9f65578ed465fdf1edbTest
https://pure.amc.nl/en/publications/revisiting-wilms-tumour-surveillance-in-beckwithwiedemann-syndrome-with-ic2-methylation-loss-replyTest(fc8ec633-d1d1-4bbf-b492-66bbe8c7b5fe).html

المؤلفون: Christian P. Kratz, Le Bouc Y, Ibrahim A, Jennifer M. Kalish, Tatton-Brown, Frédéric Brioude, Sylvie Rossignol, Jair Tenorio, Kilby, Giovanni Battista Ferrero, Irène Netchine, De Pellegrin M, Raoul C.M. Hennekam, Silvia Russo, Fiona Macdonald, Trevor Cole, Eamonn R. Maher, Mackay Djg, Karen Grønskov, Edmund J. Ladusans, Khalid Hussain, Licia Peruzzi, Saskia M. Maas, Andrea Riccio, Susanne E Boonen, Monica Bertoletti, Pablo Lapunzina, Zeynep Tümer, oze C, Jet Bliek, Alison Foster, Chiara Tortora, Thomas Eggermann, Guido Cocchi, Caroleen Shipster, Małgorzata Krajewska-Walasek, Dirk Prawitt, Robert Baker, Katrin Õunap, Alessandro Mussa, Agata Skórka

المساهمون: Human Genetics, Paediatric Genetics, APH - Quality of Care, ARD - Amsterdam Reproduction and Development, Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository

المصدر: Nature reviews. Endocrinology, 14, 229-249. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature reviews. Endocrinology
(2018). doi:10.1038/nrendo.2017.166
info:cnr-pdr/source/autori:Brioude, Frederic; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R/titolo:Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement./doi:10.1038%2Fnrendo.2017.166/rivista:Nature reviews. Endocrinology (Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Consensus, DNA Copy Number Variations, Reproductive Techniques, Assisted, Statement (logic), Beckwith–Wiedemann syndrome, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Prenatal Diagnosis, Humans, Medicine, 030304 developmental biology, 0303 health sciences, business.industry, Expert consensus, DNA Methylation, Neoplasms, Germ Cell and Embryonal, medicine.disease, 3. Good health, Molecular Diagnostic Techniques, 030220 oncology & carcinogenesis, Family medicine, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c855c5339d282c7473490b0e7bc1e33Test
https://pure.amc.nl/en/publications/expert-consensus-document-clinical-and-molecular-diagnosis-screening-and-management-of-beckwithwiedemann-syndrome-an-international-consensus-statementTest(dcb6ec09-907e-4f7b-8fbc-206cacd7382b).html

المؤلفون: Christian P. Kratz, Monica Bertoletti, Jet Bliek, Khalid Hussain, Thomas Eggermann, Trevor Cole, Pablo Lapunzina, Edmund J. Ladusans, Fiona Macdonald, Dirk Prawitt, Guido Cocchi, Giovanni Battista Ferrero, Jennifer M. Kalish, Katrina Tatton-Brown, Katrin Õunap, Sylvie Rossignol, Karen Grønskov, Małgorzata Krajewska-Walasek, Alison Foster, Maurizio De Pellegrin, Irène Netchine, Saskia M. Maas, Robert Baker, Abdulla Ibrahim, Frédéric Brioude, Alessandro Mussa, Zeynep Tümer, Susanne E Boonen, Chiara Tortora, Licia Peruzzi, Agata Skórka, Deborah J G Mackay, Raoul C.M. Hennekam, Jair Tenorio, Yves Le Bouc, Mark D. Kilby, Carole Coze, Silvia Russo, Caroleen Shipster, Andrea Riccio, Eamonn R. Maher

المساهمون: Brioude, Frédéric, Kalish, Jennifer M, Mussa, Alessandro, Foster, Alison C, Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E, Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D, Krajewska-Walasek, Malgorzata, Kratz, Christian P, Ladusans, Edmund J, Lapunzina, Pablo, Le Bouc, Yve, Maas, Saskia M, Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C, Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thoma, Mackay, Deborah J. G, Riccio, Andrea, Maher, Eamonn R., Kalish, Jennifer M., Foster, Alison C., Boonen, Susanne E., Kilby, Mark D., Kratz, Christian P., Ladusans, Edmund J., Bouc, Yves Le, Maas, Saskia M., MacDonald, Fiona, Hennekam, Raoul C., Mackay, Deborah J.G., Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository

المصدر: Brioude, F, Kalish, J M, Mussa, A, Foster, A C, Bliek, J, Ferrero, G B, Boonen, S E, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, M D, Krajewska-Walasek, M, Kratz, C P, Ladusans, E J, Lapunzina, P, Le Bouc, Y, Maas, S M, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, R C, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, D J G, Riccio, A & Maher, E R 2018, ' Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement ', Nature Reviews Endocrinology, vol. 14, pp. 229-249 . https://doi.org/10.1038/nrendo.2017.166Test

مصطلحات موضوعية: 0301 basic medicine, Beckwith-Wiedemann Syndrome, Consensus, DNA Copy Number Variations, Reproductive Techniques, Assisted, Endocrinology, Diabetes and Metabolism, Library science, 32 Biomedical and Clinical Sciences, Translational research, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Bildung, 03 medical and health sciences, Rare Diseases, Endocrinology, Prenatal Diagnosis, Humans, Medicine, media_common.cataloged_instance, Pediatric nephrology, Child growth, European union, 3202 Clinical Sciences, media_common, Pediatric, business.industry, European research, Expert consensus, DNA Methylation, Neoplasms, Germ Cell and Embryonal, National health service, 3. Good health, Molecular Diagnostic Techniques, business

وصف الملف: STAMPA; application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ccd81d3c3ec7a386b075060c38b821Test
http://hdl.handle.net/11591/385165Test

المؤلفون: Marilyne Le Jule, Cécile Brachet, Cristina Das Neves, Frédéric Brioude, Claudine Heinrichs, Walid Abi Habib, Virginie Steunou, Irène Netchine, Salah Azzi, Madeleine D. Harbison, Annick Blaise, Yves Le Bouc, Nathalie Thibaud, Sylvie Rossignol, Jennifer Salem

المصدر: Human Mutation. 35:1211-1220

مصطلحات موضوعية: Adult, Cell type, Gene Expression, Russell-Silver Syndrome, Biology, Epithelium, Genomic Imprinting, chemistry.chemical_compound, Insulin-Like Growth Factor II, Clinical heterogeneity, Leukocytes, Genetics, Humans, Tissue specific, Imprinting (psychology), Child, Genetics (clinical), Skin, Chromosomes, Human, Pair 11, Postnatal growth retardation, Infant, Newborn, Mouth Mucosa, Methylation, DNA Methylation, Fibroblasts, Molecular biology, Silver-Russell Syndrome, chemistry, Organ Specificity, Child, Preschool, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fda8cbf19a3fdcec8f5df8370b17ed88Test
https://doi.org/10.1002/humu.22623Test

المؤلفون: Virginie Steunou, Boris Keren, Massimiliano Rossi, Frédéric Brioude, Caroline Michot, Marilyne Le Jule, Sandra Chantot-Bastaraud, Sylvie Rossignol, Nathalie Thibaud, Yves Le Bouc, Laurent Pasquier, Stanislas Lyonnet, Walid Abi Habib, Christine Gicquel, Salah Azzi, Cristina Das Neves, Irène Netchine

المصدر: Human Molecular Genetics. 23:5763-5773

مصطلحات موضوعية: Male, Heterozygote, Beckwith-Wiedemann Syndrome, Genetic counseling, Beckwith–Wiedemann syndrome, Biology, Genetic analysis, Genomic Imprinting, Gene Frequency, Insulin-Like Growth Factor II, Genetics, medicine, Humans, Nucleotide Motifs, Molecular Biology, Allele frequency, Genetics (clinical), Sequence Deletion, Binding Sites, Base Sequence, Chromosomes, Human, Pair 11, SOXB1 Transcription Factors, Point mutation, General Medicine, Methylation, DNA Methylation, medicine.disease, Pedigree, Phenotype, Case-Control Studies, Mutation, embryonic structures, DNA methylation, Female, RNA, Long Noncoding, Genomic imprinting, Octamer Transcription Factor-3

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e1dc30402352db58d4fb4b4dcda2bcTest
https://doi.org/10.1093/hmg/ddu290Test

المؤلفون: Yves Le Bouc, Frédéric Brioude, Sylvie Rossignol, Salah Azzi, Boris Keren, Eric Fonteneau, Irène Netchine, Alexis Brice, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Corinne Mach, Christel Depienne

المصدر: European Journal of Medical Genetics. 56:546-550

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Trisomy, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Chromosome Breakpoints, Genomic Imprinting, Gene duplication, Genetics, medicine, Humans, SNP, Epigenetics, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Mosaicism, Karyotype, General Medicine, DNA Methylation, Uniparental Disomy, medicine.disease, Phenotype, Molecular Diagnostic Techniques, Genomic imprinting, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bfb47217251464da23a19e91791337bTest
https://doi.org/10.1016/j.ejmg.2013.06.005Test

المؤلفون: Frédéric Brioude, Eloïse Giabicani, Irène Netchine

المساهمون: Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Current Opinion in Pediatrics
Current Opinion in Pediatrics, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩
Current Opinion in Pediatrics, Lippincott, Williams & Wilkins, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩

مصطلحات موضوعية: 0301 basic medicine, MESH: Abnormalities, Multiple, Genetic counseling, education, MEDLINE, Genetic Counseling, Bioinformatics, MESH: Phenotype, MESH: Insulin-Like Growth Factor II, Genomic Imprinting, 03 medical and health sciences, MESH: DNA Methylation, MESH: Practice Guidelines as Topic, Insulin-Like Growth Factor II, Genotype, parasitic diseases, medicine, Humans, Abnormalities, Multiple, Insulin-like growth factor-II, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Humans, business.industry, Silver–Russell syndrome, DNA Methylation, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Phenotype, 3. Good health, MESH: Genomic Imprinting, Silver-Russell Syndrome, 030104 developmental biology, MESH: Silver-Russell Syndrome, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, DNA methylation, MESH: Genetic Counseling, Genomic imprinting, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e963805d493e3a287c54f9ea20a9eb29Test
https://hal.science/hal-02006402Test