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: 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: Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude

المصدر: Journal of medical genetics. 57(3)

مصطلحات موضوعية: Male, Heterozygote, Fetal Growth Retardation, Adolescent, Homozygote, Mutation, Missense, Dwarfism, Receptors, Somatomedin, Polymorphism, Single Nucleotide, Pedigree, Receptor, IGF Type 1, Fetal Development, Insulin-Like Growth Factor II, Infant, Small for Gestational Age, Microcephaly, Humans, Abnormalities, Multiple, Female, Insulin-Like Growth Factor I, Child, Growth Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606Test
https://pubmed.ncbi.nlm.nih.gov/31586944Test

المؤلفون: Pierre Sarda, Claudine Heinrichs, Lionel Van Maldergem, Caroline Michot, Frédéric Brioude, Véronique Trifard, Sylvie Rossignol, Bénédicte Demeer, Salah Azzi, Eloise Giabicani, Sandra Chantot-Bastaraud, Marilyn Lackmy-Port Lys, Ron S. Newfield, Irène Netchine, Madeleine D. Harbison, Boris Keren, Jean-Pierre Siffroi, Solveig Heide, Yves Le Bouc

المساهمون: Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de génétique et embryologie médicales [CHU Trousseau], 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), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Icahn School of Medicine at Mount Sinai [New York] (MSSM), 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], Axe 3 : organisation structurale multiéchelle des matériaux (SPCTS-AXE3), Science des Procédés Céramiques et de Traitements de Surface (SPCTS), 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), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique médicale, CHU Amiens-Picardie, Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Service de Génétique, Université Montpellier 2 - Sciences et Techniques (UM2)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), Service d'explorations fonctionnelles [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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 National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Libre de Bruxelles [Bruxelles] (ULB), Laboratoire Chrono-environnement - UFC (UMR 6249) (LCE), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Centromere, Cnv, Beckwith–Wiedemann syndrome, Biology, Molecular Imprinting, 03 medical and health sciences, Imprinting Disorder, Insulin-Like Growth Factor II, Gene Duplication, parasitic diseases, Genetics, medicine, Humans, Epigenetics, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), Chromosome Aberrations, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Chromosomes, Human, Pair 11, Silver–Russell syndrome, Beckwith-wiedemann Syndrome, 11p15 Duplication, Telomere, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Phenotype, Silver Russell Syndrome, Silver-Russell Syndrome, 030104 developmental biology, Cytogenetic Analysis, Mutation, Female, Genomic imprinting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4311581de7d3fd36510f8ce964e713cTest
https://hal.archives-ouvertes.fr/hal-02006389Test

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: 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