المؤلفون: Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Sophie Brisset, Anne Mayeur, Jérôme Bouligand, Anne Boland-Auge, Jean-François Deleuze, Frank Yates, Thomas Lemonnier, Patrick Callier, Yannis Duffourd, Patrick Nitschke, Emmanuelle Ollivier, Arnaud Bourdin, John De Vos, Gabriel Livera, Gérard Tachdjian, Leïla Maouche-Chrétien, Lucie Tosca

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/448defd6914244f9bd5854134c078283

المؤلفون: Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: 7q35q36.1, array‐CGH, CNTNAP2 disruption, interstitial deletion, KMT2C haploinsufficiency, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7

المؤلفون: Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian

المصدر: Case Reports in Genetics, Vol 2017 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/c2c686b160e74fecb81c30866e115d0a

المؤلفون: Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen

المصدر: PLoS ONE, Vol 6, Iss 3, p e18334 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3069076?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5061d0c3eb354a89b407b3b4a012778f

المؤلفون: Marie Boisson, Anne‐Gael Cordier, Jelena Martinovic, Aline Receveur, Aurélie Mouka, Romain Diot, Catherine Egoroff, Geoffroy Esnault, Loïc Drévillon, Alexandra Benachi, Gérard Tachdjian, Lucie Tosca

المصدر: Prenatal Diagnosis. 42:1627-1635

مصطلحات موضوعية: Comparative Genomic Hybridization, Fetus, DNA Copy Number Variations, Infant, Newborn, Humans, Obstetrics and Gynecology, Hernias, Diaphragmatic, Congenital, Genetics (clinical), Retrospective Studies, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050bb4f1c67f6a49971450bef2e22977
https://doi.org/10.1002/pd.6268

المؤلفون: Laure Lecerf, Irina Giurgea, Quitterie Laudouar, Audrey Briand, Sophie Brisset, Solveig Heide, Aurélie Mouka, G Tachdjian, Lionel Van Maldergem, Michel Goossens, Corinne Metay, Loïc Drévillon, Valérie Ortonne, Lucie Tosca, Virginie Benoit

المساهمون: Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Biochimie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), IMRB - 'Biologie du système neuromusculaire' [Créteil] (U955 Inserm - UPEC), École nationale vétérinaire d'Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de génétique humaine [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, Sorbonne Université (SU), 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), Gestionnaire, Hal Sorbonne Université, École nationale vétérinaire - Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique moléculaire [CHU Trousseau]

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: Male, CNTNAP2, Candidate gene, Developmental Disabilities, [SDV]Life Sciences [q-bio], Chromosome Disorders, Haploinsufficiency, QH426-470, Bioinformatics, medicine.disease_cause, Craniofacial Abnormalities, Epilepsy, Holoprosencephaly, KMT2C haploinsufficiency, 7q35q36.1, interstitial deletion, Genetics (clinical), Chromosome 7 (human), 0303 health sciences, Mutation, Clinical Report, 030305 genetics & heredity, Hypotonia, 3. Good health, DNA-Binding Proteins, [SDV] Life Sciences [q-bio], Phenotype, Child, Preschool, array‐CGH, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Chromosome Deletion, medicine.symptom, CNTNAP2 disruption, Chromosomes, Human, Pair 7, Noninvasive Prenatal Testing, Nerve Tissue Proteins, Clinical Reports, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Humans, Molecular Biology, 030304 developmental biology, business.industry, Membrane Proteins, medicine.disease, array-CGH, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1bf3ce904f743be703850173c0d934
https://doi.org/10.1002/mgg3.1645

المؤلفون: Serge Amselem, Irina Giurgea, Thierry Gaillon, Fabienne Giuliano, Michel Goossens, Jamal Ghoumid, Damien Haye, H. Jacquemin-Sablon, Loïc Drévillon, Thierry Bienvenu, V. Nau, E. El Khouri, Audrey Briand-Suleau, P. De La Grange

المساهمون: Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01072-7⟩

مصطلحات موضوعية: 0301 basic medicine, Adolescent, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Biology, CDH2, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Intellectual Disability, medicine, Cell Adhesion, Humans, Luciferase, Cell adhesion, Child, Molecular Biology, Wnt Signaling Pathway, ComputingMilieux_MISCELLANEOUS, beta Catenin, Wnt signaling pathway, Infant, Newborn, Infant, RNA-Binding Proteins, Translation (biology), medicine.disease, Cell biology, DNA-Binding Proteins, Psychiatry and Mental health, 030104 developmental biology, Catenin, Child, Preschool, Autism, Haploinsufficiency, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e106d2ddd74115f9a134848406090109
https://pubmed.ncbi.nlm.nih.gov/33867523

المؤلفون: Jelena Martinovic, Jérôme Bouligand, Jeanne Amiel, Frédéric Parisot, Virginie Benoit, François Petit, Aline Receveur, Alexis Proust, Gérard Tachdjian, Lucie Tosca, Elie Azria, Sophie Brisset, Minh-Tuan Huynh, Loïc Drévillon

المصدر: European Journal of Medical Genetics. 61:322-328

مصطلحات موضوعية: 0301 basic medicine, Branchial arch defects, Pathology, medicine.medical_specialty, Candidate gene, Prenatal diagnosis, General Medicine, 030105 genetics & heredity, Microdeletion syndrome, Biology, 03 medical and health sciences, Facial dysmorphism, 030104 developmental biology, Real-time polymerase chain reaction, In utero, Genetics, medicine, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef692aa5cd7d3620b6b38d3bbfe896c5
https://doi.org/10.1016/j.ejmg.2018.01.009

المؤلفون: Sophie Brisset, Lucie Tosca, Gérard Tachdjian, Julien Saada, Virginie Benoit, Loïc Drévillon, Marie-Emmanuelle Naud, Jelena Martinovic, Corinne Metay

المصدر: Case Reports in Genetics
Case Reports in Genetics, Vol 2017 (2017)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Fetus, Pathology, medicine.medical_specialty, lcsh:QH426-470, business.industry, Prenatal diagnosis, Case Report, General Medicine, 030105 genetics & heredity, medicine.disease, Phenotype, 03 medical and health sciences, lcsh:Genetics, 030104 developmental biology, Intellectual disability, medicine, Syndactyly, PSMD12, business, Gene, Craniofacial dysmorphism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd04c415e082e294b877d88a6ad965d4
http://europepmc.org/articles/PMC5390532

المؤلفون: Constantin Yanicostas, Michel Goossens, Jeanne Amiel, David Mowat, Irina Giurgea, Linda Goodwin, Marlène Rio, Nadia Soussi-Yanicostas, Jamal Ghoumid, Seyedeh Maryam Alavi-Naini, Patrick Raymond, Nadege Bondurand, Stanislas Lyonnet, Loïc Drévillon, Audrey Briand-Suleau, Mayssa Nasser

المصدر: Human Molecular Genetics. 22:2652-2661

مصطلحات موضوعية: Male, Microcephaly, Transcription, Genetic, Mowat–Wilson syndrome, Molecular Sequence Data, Mutation, Missense, Biology, Cell Line, Intellectual Disability, Gene Order, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Hirschsprung Disease, Molecular Biology, Gene, Alleles, Zebrafish, Genetics (clinical), Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, Corpus Callosum Agenesis, Facies, Zinc Fingers, Morphant, DNA, General Medicine, medicine.disease, Stop codon, Repressor Proteins, Disease Models, Animal, Phenotype, Female, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ef8d82e64a992341ca37b829e41311
https://doi.org/10.1093/hmg/ddt114