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المؤلفون: G. Bosser, Bruno Leheup, M. Valduga, L. Lambert, T. Ingrao, E. Albuisson

المصدر: Archives de Pédiatrie. 24:1067-1075

مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Critical pathways, Pediatrics, Perinatology and Child Health, Medicine, 030105 genetics & heredity, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::390f4355c3081a5e23d7e81c0b98fd3f
https://doi.org/10.1016/j.arcped.2017.08.017

المؤلفون: Francine Arbez-Gindre, Claire Toubin, M. Valduga, Didier Riethmuller, Christelle Cabrol, Nicolas Mottet, Ken McElreavey, Lionel Van Maldergem, Juliette Piard, Jean-Patrick Metz

المساهمون: Service de Gynécologie Obstétrique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre de génétique humaine [CHRU Besançon], Service d'Anatomie pathologique [CHRU Besançon], Mécanismes de l'Hérédité épigénétique / Mechanisms of epigenetic inheritance, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université de Lorraine (UL), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62, pp.103539-. ⟨10.1016/j.ejmg.2018.09.006⟩
European Journal of Medical Genetics, 2019, 62 (9), pp.103539. ⟨10.1016/j.ejmg.2018.09.006⟩

مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Disorders of Sex Development, Autopsy, Chromosome Disorders, Abnormal lung lobation, 03 medical and health sciences, Ectodermal Dysplasia, Pregnancy, Genetics, Medicine, Humans, Genetics (clinical), 030304 developmental biology, Hypopigmentation, 0303 health sciences, Fetus, Fetal Growth Retardation, business.industry, Disorder of sex development, Lung lobation, 030305 genetics & heredity, General Medicine, Micropenis, medicine.disease, 19q12q13 deletion, Cytoskeletal Proteins, Hypospadias, Female, Male sex differentiation, medicine.symptom, business, Chromosomes, Human, Pair 19, Co-Repressor Proteins, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80331027e48914ed56dda2750b8f71ba
https://hal.archives-ouvertes.fr/hal-03488020

المؤلفون: Alain Czorny, M. Valduga, Virginie Roze, Aimee L. Fenwick, Andrew O.M. Wilkie, Juliette Piard, Lionel Van Maldergem, Marion Lenoir

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, TCF12, dysmorphism, medicine.disease_cause, Clinical Reports, Craniosynostosis, Exon, Intellectual disability, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Genetics (clinical), Aged, Mutation, Clinical Report, business.industry, medicine.disease, craniosynostosis, intellectual disability, Learning disability, Medical genetics, Female, microdeletion, medicine.symptom, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82477dffff7c0b274e769b167ccdb328
https://doi.org/10.1002/ajmg.a.37083

المؤلفون: T, Ingrao, L, Lambert, M, Valduga, G, Bosser, E, Albuisson, B, Leheup

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 24(11)

مصطلحات موضوعية: Male, Child, Preschool, Critical Pathways, DiGeorge Syndrome, Infant, Newborn, Humans, Infant, Female, Genetic Testing, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8e2f305bac1c6c19ee92d7cf10760baf
https://pubmed.ncbi.nlm.nih.gov/28967605

المؤلفون: Claire Beneteau, Marie-José Grégoire, Christophe Philippe, Marie Marvier, Juliette Piard, M. Béri, Philippe Jonveaux, Virginie Roth, B. Leheup, Céline Bonnet, M. Valduga

المصدر: American Journal of Medical Genetics Part A. :1933-1941

مصطلحات موضوعية: Male, Adolescent, Psychometrics, Biology, Polymerase Chain Reaction, Genomic Imprinting, Gene Duplication, Intellectual Disability, Angelman syndrome, Gene duplication, Genetics, medicine, Humans, Clinical significance, Autistic Disorder, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, medicine.diagnostic_test, Infant, DNA Methylation, medicine.disease, Penetrance, Pedigree, Phenotype, Child, Preschool, Autism, Female, Angelman Syndrome, Abnormality, Prader-Willi Syndrome, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac59465092aef2d71fe4d70fa819293
https://doi.org/10.1002/ajmg.a.33521

المؤلفون: A. Miton, M. Valduga, M. Béri, Christophe Nemos, B. Foliguet, Philippe Jonveaux, P. Bach Segura, O. Thiebaugeorges, Christophe Philippe, Céline Bonnet

المصدر: Prenatal Diagnosis. 30:333-341

مصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, Obstetrics and Gynecology, Prenatal diagnosis, Biology, medicine.disease, Corpus callosum, Agenesis, Tetrasomy, medicine, Copy-number variation, Trisomy, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3cb42f4a7b66887dab3249e8698c771b
https://doi.org/10.1002/pd.2460

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المؤلفون: A. Miton, Philippe Jonveaux, T. Lecompte, B. Foliguet, S. Romana, Christophe Philippe, M. Valduga, P. Droulle, V. Latger Cannard

المصدر: European Journal of Medical Genetics. 50:475-481

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Down syndrome, Monosomy, Genetic counseling, Prenatal diagnosis, Ultrasonography, Prenatal, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Jacobsen syndrome, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal Deletion, medicine.diagnostic_test, Mosaicism, business.industry, Chromosomes, Human, Pair 11, Paris-Trousseau syndrome, General Medicine, medicine.disease, Karyotyping, Amniocentesis, Female, Chromosome Deletion, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e26e1b468d0cfcc975046b83f21b64f
https://doi.org/10.1016/j.ejmg.2007.06.002

المؤلفون: N, Gruchy, F, Vialard, E, Blondeel, N, Le Meur, G, Joly-Hélas, P, Chambon, M, Till, M, Herbaut-Graux, A, Vigouroux-Castera, A, Coussement, J, Lespinasse, F, Amblard, M, Jimenez, L, Lebel Roy Camille, F, Carré-Pigeon, E, Flori, F, Mugneret, S, Jaillard, C, Yardin, R, Harbuz, M, Collonge Rame, P, Vago, M, Valduga, N, Leporrier

المساهمون: Laboratoire de cytogénétique prénatale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Cytogénétique, Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, École des Hautes Études en Santé Publique [EHESP] (EHESP), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Université libre de Bruxelles (ULB), Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Service de cytogénétique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, AGeing and IMagery (AGIM), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale, CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Département Méthodes quantitatives en santé publique (METIS), 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 ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE)

المصدر: Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2014, 34 (12), pp.1133-8. ⟨10.1002/pd.4439⟩
Prenatal Diagnosis, 2014, 34 (12), pp.1133-8. ⟨10.1002/pd.4439⟩

مصطلحات موضوعية: Adult, Pregnancy, Karyotyping, [SDV]Life Sciences [q-bio], Pregnancy Outcome, Humans, Turner Syndrome, Abortion, Induced, Female, Genetic Counseling, France, Nuchal Translucency Measurement, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a83182b4e21c9df4ca8891c15e723a2f
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116593