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: 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: 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: Yves Le Bouc, Eloise Giabicani, Frédéric Brioude, 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), 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Annales d'Endocrinologie
Annales d'Endocrinologie, Elsevier Masson, 2017, 78 (2), pp.112-113. ⟨10.1016/j.ando.2017.04.010⟩
Annales d'Endocrinologie, 2017, 78 (2), pp.112-113. ⟨10.1016/j.ando.2017.04.010⟩

مصطلحات موضوعية: 0301 basic medicine, Beckwith-Wiedemann Syndrome, Endocrinology, Diabetes and Metabolism, Beckwith–Wiedemann syndrome, Epigenesis, Genetic, Fetal Development, MESH: Pregnancy, 0302 clinical medicine, Endocrinology, Pregnancy, MESH: Epigenesis, Genetic, Imprinting (psychology), Growth Disorders, Genetics, KCNQ1OT1, MESH: Infant, Newborn, IGF2, Syndrome de Beckwith-Wiedemann, General Medicine, MESH: Growth Disorders, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Uniparental disomy, Fetal Diseases, MESH: Fetal Diseases, MESH: Silver-Russell Syndrome, embryonic structures, Female, MESH: Beckwith-Wiedemann Syndrome, Imprinting disorders, MESH: Fetal Development, Adult, medicine.medical_specialty, MESH: Mutation, 030209 endocrinology & metabolism, Biology, Silver–Russell syndrome, Genomic Imprinting, 03 medical and health sciences, MESH: Uniparental Disomy, Internal medicine, parasitic diseases, medicine, Humans, Epigenetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Humans, Infant, Newborn, MESH: Adult, Pathologies d’empreinte, Uniparental Disomy, medicine.disease, MESH: Genomic Imprinting, Silver-Russell Syndrome, CDKN1C, 030104 developmental biology, Overgrowth syndrome, Mutation, Genomic imprinting, MESH: Female, Syndrome de Silver-Russell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7004c8b66bfa78359e4ab2eaaf86fbTest
https://doi.org/10.1016/j.ando.2017.04.010Test

المؤلفون: Christine Gicquel, Frédéric Brioude, Sylvie Rossignol, Julie Demars, Irène Netchine, Salah Azzi, Y. Le Bouc

المصدر: Research and Perspectives in Endocrine Interactions ISBN: 9783319025902

مصطلحات موضوعية: Genetics, KCNQ1OT1, CpG site, DNA methylation, Epigenetics, Biology, Imprinting (psychology), Allele, Genomic imprinting, Reprogramming

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::464b5edfdf728d8451594e84d0d9c74fTest
https://doi.org/10.1007/978-3-319-02591-9_8Test

المؤلفون: Salah Azzi, Yves Le Bouc, Irène Netchine, Frédéric Brioude, Sylvie Rossignol

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Fetus, Childhood growth, Methylation, Biology, Endocrinology, Overgrowth syndrome, Internal medicine, DNA methylation, medicine, Age of onset, Imprinting (psychology), Genomic imprinting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0badbdc60a7a04c690d46b95591ca52bTest
https://doi.org/10.1159/000341750Test