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المؤلفون: Elia Samaha, V Cusin, Géraldine Perkins, S Chaussade, R Benamouzig, J Netter-Cotti, E Coffin, E Perez Cuadrado, Aziz Zaanan, M. Dhooge, Olivier Caron, Y Parc, P Laurent Puig, Guillaume Perrod, Jerôme Bellanger, David Malka, C Lekhal, Christophe Cellier, Chrystelle Colas, Bruno Buecher

المصدر: ESGE Days.

مصطلحات موضوعية: Correlation, medicine.medical_specialty, business.industry, Incidence (epidemiology), Internal medicine, Mutation (genetic algorithm), Cohort, medicine, medicine.disease, business, Gastroenterology, Lynch syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f2ec3e2545ed5a74a29eba5a26570b9
https://doi.org/10.1055/s-0040-1704367

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المؤلفون: Patrick Collignon, L. Joly, Bruno Leheup, Elodie Gautier, T. Rousseau, Christine Binquet, M.-A. Delrue, Jean-Eric Wolf, Yves Dulac, Frédéric Huet, C. Cassini, G. Mace, Nadine Hanna, Catherine Boileau, Christel Thauvin-Robinet, Laurent Gouya, Sylvie Odent, Julien Thevenon, Paul Sagot, Guillaume Jondeau, Laurence Faivre, H. Plauchu, V. Cusin, Fanny Coron

المصدر: Prenatal Diagnosis. 32:1318-1323

مصطلحات موضوعية: Marfan syndrome, 0303 health sciences, Pediatrics, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, business.industry, Genetic counseling, 030305 genetics & heredity, Obstetrics and Gynecology, Prenatal diagnosis, Disease, Preimplantation genetic diagnosis, medicine.disease, 3. Good health, 03 medical and health sciences, Reproductive Issues, 0302 clinical medicine, Medicine, Medical diagnosis, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ef761a5153db1f1716ad181ee67753d
https://doi.org/10.1002/pd.4008

المؤلفون: F, Coron, T, Rousseau, G, Jondeau, E, Gautier, C, Binquet, L, Gouya, V, Cusin, S, Odent, Y, Dulac, H, Plauchu, P, Collignon, M-A, Delrue, B, Leheup, L, Joly, F, Huet, J, Thevenon, G, Mace, C, Cassini, C, Thauvin-Robinet, J E, Wolf, N, Hanna, P, Sagot, C, Boileau, L, Faivre

المساهمون: Centre de référence MARFAN, Hôpital Bichat, Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Institut de Génétique et Développement de Rennes (IGDR), 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 ), Service de Génétique, Hôtel Dieu, Centre Hospitalier de toulon, Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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 )

المصدر: Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2012, 32 (13), pp.1318-23. ⟨10.1002/pd.4008⟩
Prenatal Diagnosis, 2012, 32 (13), pp.1318-23. ⟨10.1002/pd.4008⟩

مصطلحات موضوعية: Adult, Male, Parents, Adolescent, Genetics, Medical, [SDV]Life Sciences [q-bio], Middle Aged, Marfan Syndrome, Young Adult, Prenatal Diagnosis, Surveys and Questionnaires, Humans, Female, France, Preimplantation Diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::395c1b8cda2978e25f36afb63610735b
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01120417

المؤلفون: V Belin, Anne Moncla, Annick Toutain, D Girlich, Michel Vekemans, Valérie Cormier-Daire, V Cusin, M. Le Merrer, Géraldine Viot, Arnold Munnich

المصدر: Nature Genetics. 19:67-69

مصطلحات موضوعية: Male, X Chromosome, Genotype, Molecular Sequence Data, Pseudoautosomal region, Mesomelic Dysplasia, chemical and pharmacologic phenomena, Biology, Osteochondrodysplasias, Translocation, Genetic, Short Stature Homeobox Protein, Mesomelic short stature, Y Chromosome, Mesomelia, Genetics, medicine, Humans, Léri–Weill dyschondrosteosis, In Situ Hybridization, Fluorescence, Homeodomain Proteins, Langer mesomelic dysplasia, Short stature homeobox gene, hemic and immune systems, medicine.disease, Pedigree, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928bd0bc5bdd89387aca771c8673cf25
https://doi.org/10.1038/ng0198-67

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المؤلفون: V Sulmont, Nathalie Dagoneau, V Cusin, Valérie Cormier-Daire, Michèle Mathieu, Céline Huber, M. Le Merrer, Arnold Munnich

المصدر: Journal of medical genetics. 38(5)

مصطلحات موضوعية: Pseudoautosomal region, DNA Mutational Analysis, Limb Deformities, Congenital, Biology, Short stature, Frameshift mutation, Exon, Short Stature Homeobox Protein, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Letters to the Editor, Léri–Weill dyschondrosteosis, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Langer mesomelic dysplasia, Point mutation, Exons, medicine.disease, Body Height, Codon, Nonsense, medicine.symptom, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3513562efb8d5be3e37efc4c99df2363
https://pubmed.ncbi.nlm.nih.gov/11403039

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