المؤلفون: Eloïse Giabicani, Aurélie Pham, Céline Sélénou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnès Linglart, Anne Poliard, Catherine Chaussain, Irène Netchine

المصدر: International Journal of Oral Science, Vol 14, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Dentistry, RK1-715

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1674-2818Test; https://doaj.org/toc/2049-3169Test

الوصول الحر: https://doaj.org/article/9a988a1be4c44aa7ba3015d2d49b8cffTest

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

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/54434e9b12d244b4afc959af61b29a70Test

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

المصدر: Cells, Vol 11, Iss 12, p 1886 (2022)

مصطلحات موضوعية: IGF2, growth, Silver–Russell syndrome, Beckwith–Wiedemann syndrome, parental imprinting, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/11/12/1886Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/a746b99110ee4c9eb8d95958d314f495Test

المؤلفون: Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle

المصدر: EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396418303840Test; https://doaj.org/toc/2352-3964Test

الوصول الحر: https://doaj.org/article/eb38d45a2af84fb1a420e9f01ae4ca4cTest

المؤلفون: Keren Borensztajn, Marie-Laure Sobrier, Philippe Duquesnoy, Anne-Marie Fischer, Jacqueline Tapon-Bretaudière, Serge Amselem

المصدر: PLoS Genetics, Vol 2, Iss 9, p e138 (2006)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC1557585?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/4c6bbe7e7c014188a6e4d1c6aad461f0Test

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: Ana Cristina Victorino Krepischi, Vinicius Nahime Brito, Mariana F A Funari, Alexander A. L. Jorge, Carla Rosenberg, Luciana Ribeiro Montenegro, Lucas Santos de Santana, Virginie Steunou, Chong Ae Kim, Lorna C Gilligan, Jan Idkowiak, Francis de Zegher, Ana Pinheiro Machado Canton, Ana Claudia Latronico, Rachel Sayuri Honjo, Berenice B. Mendonca, Marie-Laure Sobrier, Irène Netchine, Silvia Figueiredo Costa, Wiebke Arlt

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, Male, Candidate gene, Ubiquitin-Protein Ligases, Puberty, Precocious, 030209 endocrinology & metabolism, Bioinformatics, ANORMALIDADES CROMOSSÔMICAS, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Humans, Copy-number variation, Genetic Testing, Allele, Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, Rehabilitation, Puberty, Genetic disorder, Obstetrics and Gynecology, RNA-Binding Proteins, medicine.disease, Reproductive Medicine, Female, business, Candidate Disease Gene, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587aa4afb11114d3fd90155d02d81cceTest
https://pubmed.ncbi.nlm.nih.gov/33313884Test

المؤلفون: Ana Pinheiro-Machado Canton, Virginie Steunou, Alexander A. L. Jorge, Danielle S Bessa, Berenice B. Mendonca, Marie-Laure Sobrier, Ana Claudia Latronico, Vinicius Nahime Brito, Luciana Ribeiro Montenegro, Irène Netchine, Larissa G. Gomes

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, DLK1, Pediatric Endocrinology, Pediatric Sexual Differentiation, Puberty, and Bone Biology, Endocrinology, Diabetes and Metabolism, Internal medicine, DNA methylation, medicine, Biology, Imprinting (psychology), Idiopathic central precocious puberty, AcademicSubjects/MED00250

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc873b81ff23a95f49a83fbfba78c25Test
https://doi.org/10.1210/jendso/bvaa046.847Test

المؤلفون: Merih Berberoğlu, Régis Coutant, Şenay Savaş Erdeve, Cécile Brachet, Caroline Thalassinos, Frédéric Brioude, Michel Polak, Erdal Kurnaz, Sabrina Belkacem, Claudine Heinrichs, Aude Soleyan, Zeynep Şıklar, Nathalie Collot, Philippe Chanson, Jean-Claude Carel, Zehra Aycan, Marie-Laure Sobrier, Serge Amselem, Géraldine Viot, Noureddine Kaffel, Stanislas Lyonnet, Philippe Duquesnoy, Eliane Khallouf, Marie Legendre, Enzo Cohen, Soumeya Fedala, Sophie Rose, Florence Dastot, Frédérique Gatelais

المساهمون: Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm 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), Hôpital Lamine Debaghine [Alger, Algérie] (HLD), Centre Hospitalier Universitaire Bab El Oued [Alger, Algérie] (CHU Bab El Oued), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpitaux Universitaires Paris Centre (CHU Paris Centre), Hôpital Robert Debré, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Universitaire des Enfants Reine Fabiola [Brussels, Belgium]. (HUERF), Complexe Médical Multidisciplinaire [Sfax, Tunisia] (C2M), Ankara University School of Medicine [Turkey], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Dupuis, Christine, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie des maladies génétiques d'expression pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), 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], Service de Génétique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Division of Paediatric Endocrinology, Dr Sami Ulus Woman Health, Children Research Hospital, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Human Mutation
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩

مصطلحات موضوعية: Male, Receptors, Neuropeptide, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, MESH: Amino Acid Sequence, medicine.disease_cause, molecular epidemiology, MESH: Genotype, Exon, Receptors, Pituitary Hormone-Regulating Hormone, Cyclic AMP, IGHD, MESH: Human Growth Hormone, Missense mutation, MESH: DNA Mutational Analysis, Idiopathic Isolated Growth Hormone Deficiency, Genetics (clinical), genotype‐phenotype correlation, MESH: Cyclic AMP, MESH: Genetic Association Studies, Genetics, 0303 health sciences, Mutation, Human Growth Hormone, MESH: Receptors, Neuropeptide, 030305 genetics & heredity, MESH: Genetic Predisposition to Disease, MESH: Amino Acid Substitution, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], functional studies, Female, MESH: Mutation, Genotype, MESH: Pedigree, Genetic counseling, GHRHR, Biology, genotype-phenotype correlation, MESH: Dwarfism, Pituitary, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Dwarfism, Pituitary, Gene, Alleles, Genetic Association Studies, 030304 developmental biology, MESH: Humans, Molecular epidemiology, MESH: Receptors, Pituitary Hormone-Regulating Hormone, MESH: Alleles, MESH: Male, Amino Acid Substitution, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013fc4132e589725e8cbefc8344e1c72Test
https://www.hal.inserm.fr/inserm-03712902/documentTest

المؤلفون: Marie-Laure Sobrier, Serge Amselem, Heike Pfäffle, Cheri Deal, Charmian A. Quigley, Jurgen Klammt, John S. Parks, Ron G. Rosenfeld, Alan Zimmerman, Roland Pfäffle, Gordon B. Cutler, Marie Legendre, Marie-Pierre Luton, Christine Jones, Werner F. Blum, Christopher J. Child, Jan Lebl

المساهمون: Universität Leipzig [Leipzig], Justus-Liebig-Universität Gießen = Justus Liebig University (JLU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], Eli Lilly and Company Limited [Windlesham], Eli Lilly and Company [Bad Homburg] (ELC), Eli Lilly and Company [Indianapolis], Sydney Children's hospital, Gordon Cutler Consultancy LLC [Deltaville, VA, USA] (G2C), Université du Québec à Montréal = University of Québec in Montréal (UQAM), University Hospital Motol [Prague], Charles University [Prague] (CU), Oregon Health and Science University [Portland] (OHSU), Emory University School of Medicine, Emory University [Atlanta, GA], Couvet, Sandrine

المصدر: EBioMedicine
EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Receptors, Neuropeptide, Research paper, DNA Mutational Analysis, Physiology, Hypopituitarism, medicine.disease_cause, 0302 clinical medicine, Receptors, Pituitary Hormone-Regulating Hormone, Prospective Studies, Mutation frequency, Child, Mutation, Human Growth Hormone, Nuclear Proteins, General Medicine, Growth hormone secretion, Phenotype, Child, Preschool, Pituitary Gland, Cohort, Medical genetics, Female, medicine.symptom, Transcription Factor Pit-1, medicine.medical_specialty, Adolescent, LIM-Homeodomain Proteins, 030209 endocrinology & metabolism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Neuroendocrinology, Zinc Finger Protein Gli2, Short stature, General Biochemistry, Genetics and Molecular Biology, Growth hormone deficiency, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Genetics, Humans, Dwarfism, Pituitary, Genotyping, Homeodomain Proteins, business.industry, SOXB1 Transcription Factors, medicine.disease, Clinical trial, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Pituitary, business, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfb5b1181c353f4200992c8440734f3Test
https://pubmed.ncbi.nlm.nih.gov/30266296Test