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1دورية أكاديمية
المؤلفون: Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
المصدر: PLoS ONE, Vol 18, Iss 1, p e0279745 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Endika Haro, Florence Petit, Charmaine U. Pira, Conor D. Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A. Ros, Kerby C. Oberg
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Andy Nguyen, Endika Haro, Florence Petit, Lauren I. Yorozuya, Kerby C. Oberg, Anne-Sophie Jourdain, Florence Fellmann, Conor D. Spady, Marian A. Ros, Sylvie Manouvrier-Hanu, Charmaine U. Pira, Christine Francannet, Jean-Marc Good, Sara Lucas-Toca, Fabienne Escande, Austin L. Gray
المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Rare Disorders Consortium Disease Network (US)
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Nature communications, vol. 12, no. 1, pp. 5533
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communicationsمصطلحات موضوعية: Male, Science, LIM-Homeodomain Proteins, General Physics and Astronomy, Biology, Development, Bioinformatics, Article, General Biochemistry, Genetics and Molecular Biology, Mesoderm, Mice, Genes, Reporter, Nail-Patella Syndrome, medicine, Animals, Humans, Autoregulation, Enhancer, Gene, Nail patella syndrome, Kidney, Multidisciplinary, Base Sequence, Disease genetics, Disease model, Homozygote, Extremities, General Chemistry, medicine.disease, Phenotype, Chromatin, Pedigree, medicine.anatomical_structure, Organ Specificity, Female, Haploinsufficiency, Chickens, Gene Deletion, Transcription Factors, Kidney disease
وصف الملف: application/pdf
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المؤلفون: Thomas Smol, Perrine Brunelle, Roseline Caumes, Odile Boute-Benejean, Caroline Thuillier, Martin Figeac, Emilie Ait-Yahya, Fabrice Bonte, Frederic Tran Mau-Them, Christel Thauvin-Robinet, Laurence Faivre, Catherine Roche-Lestienne, Sylvie Manouvrier-Hanu, Florence Petit, Jamal Ghoumid
المصدر: European journal of medical genetics. 65(11)
مصطلحات موضوعية: Alkyl and Aryl Transferases, Phenotype, RNA, Transfer, Genetics, Microcephaly, Humans, General Medicine, Codon, Genetics (clinical), Alleles, Mitochondria
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المؤلفون: Bénédicte Duban-Bedu, Caroline Thuillier, Catherine Roche-Lestienne, Roseline Caumes, Jamal Ghoumid, Sonia Bouquillon, Anne Dieux-Coeslier, Sylvie Manouvrier-Hanu, Elise Boudry-Labis, Thomas Smol
المصدر: neurogenetics. 21:67-72
مصطلحات موضوعية: Male, 0301 basic medicine, Cell Cycle Proteins, Locus (genetics), 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Gene Duplication, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Loss function, business.industry, Macrocephaly, Brain, medicine.disease, Human genetics, DNA-Binding Proteins, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Autism spectrum disorder, Autism, Female, medicine.symptom, Haploinsufficiency, business, 030217 neurology & neurosurgery, Transcription Factors
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المصدر: European journal of medical genetics. 65(1)
مصطلحات موضوعية: Phosphorylation sites, Mediator Complex, Individual gene, Mutation, Missense, General Medicine, Computational biology, Biology, medicine.disease, Hypotonia, DNA sequencing, Intellectual disability, Genetics, medicine, Missense mutation, Humans, In patient, medicine.symptom, Exome, Genetics (clinical), Algorithms
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المؤلفون: Delphine Héron, Elodie Brugallé, Laurence Bellengier, Jamal Ghoumid, Sylvie Manouvrier-Hanu, Pascal Antoine, Laura Geerts‐Crabbé, Carole Fantini-Hauwel, Patrick Edery
المساهمون: Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Faculté des Sciences [Bruxelles] (ULB), Université libre de Bruxelles (ULB), Université de Lille, LillOA, Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Journal of Genetic Counseling
Journal of Genetic Counseling, 2019, Journal of Genetic Counseling, ⟨10.1002/jgc4.1153⟩
Journal of genetic counseling, 28 (5مصطلحات موضوعية: Male, Génétique clinique, [SDV]Life Sciences [q-bio], Psychological intervention, subjective experience, coping strategies, 0302 clinical medicine, health behavior, Adaptation, Psychological, poor self-esteem, Nail-Patella syndrome, carrier testing, 030212 general & internal medicine, Social isolation, Child, Qualitative Research, Genetics (clinical), Nail patella syndrome, Interpretative phenomenological analysis, medicine.diagnostic_test, Middle Aged, 3. Good health, [SDV] Life Sciences [q-bio], Distress, Female, medical adherence, medicine.symptom, Clinical psychology, Adult, Adolescent, Genetic counseling, Carrier testing, genetic testing, Young Adult, 03 medical and health sciences, risk perception, medicine, Humans, predictive genetic testing, Genetic testing, adaptation difficulty, congenital physical disability, business.industry, distress, medicine.disease, disability, quality of life, lived experience, beliefs, business, genetic counselling, 030217 neurology & neurosurgery
وصف الملف: 1 full-text file(s): application/pdf
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المؤلفون: Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
المساهمون: Developmental Biology, Obstetrics & Gynecology, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Duke University [Durham], Hospital Universitario Virgen del Rocío [Sevilla], University of Tübingen, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Hunter Genetics, Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Nationwide Children's Hospital, Ohio State University [Columbus] (OSU), University Hospitals Leuven [Leuven], Nemours/Alfred I. du Pont Hospital for Children, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, University of Adelaide, Women’s and Children’s Hospital [Adelaide], SA Pathology [Adelaide, SA, Australia], Vrije Universiteit Brussel (VUB), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), univOAK, Archive ouverte, Reproduction and Genetics, Clinical sciences, Medical Genetics
المصدر: Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩مصطلحات موضوعية: Male, 0301 basic medicine, X-linked intellectual disability, PROTEIN, [SDV.GEN] Life Sciences [q-bio]/Genetics, FUNCTIONAL-ACTIVITY, Mice, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, RNF12, Missense mutation, TRANSCRIPTION, Child, Zebrafish, Genetics, Middle Aged, Phenotype, Pedigree, Ubiquitin ligase, Psychiatry and Mental health, medicine.anatomical_structure, Child, Preschool, Female, Adult, Conduct Disorder, Adolescent, Ubiquitin-Protein Ligases, NPAS3, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, medicine, Ring finger, Animals, Humans, Molecular Biology, Transcription factor, RLIM, [SDV.GEN]Life Sciences [q-bio]/Genetics, CHROMOSOME INACTIVATION, MUTATIONS, Infant, Newborn, Ubiquitination, Wild type, Zebrafish Proteins, medicine.disease, biology.organism_classification, HEK293 Cells, 030104 developmental biology, Mutation, Mental Retardation, X-Linked, biology.protein, LIM COFACTORS, 030217 neurology & neurosurgery, Transcription Factors, GENE UBE2A CAUSE
وصف الملف: application/pdf
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المؤلفون: Julien Thevenon, Sophie Blesson, Sylvie Manouvrier Hanu, Chloé Quélin, Florence Fellmann, Nicolas Chassaing, Fabienne Giuliano, Laetitia Lambert, Caroline Rooryck-Thambo, Pierre-Simon Jouk, Sylvie Di Filippo, Alexandre Vasiljevic, Christine Francannet, Daphné Lehalle, Audrey Putoux, Anna‐Gaëlle Giguet‐Valard, Sophie Naudion, Salima El Chehadeh, Estelle Colin, Viorica Ciorna‐Monferrato, Bruno Reversade, Lionel Van Maldergem, Fanny Morice-Picard, Renaud Touraine, Sébastien Moutton, Jocelyne Attia, Laurent Pasquier, A. Vigouroux-Castera, Catherine Yardin, Tania Attié-Bitach, Carine Abel, Hui Liu, Sylvie Odent, Christelle Cabrol, Florence Petit, Philippe Khau Van Kien, Thomas Simonet, Catherine Vincent-Delorme, Jean Chiesa, Juliette Piard, Anne Bazin, Mélanie Fradin, Bertrand Isidor, Loubna El Zein, Patrice Bouvagnet, Marie-Pierre Brechard, Emmanuelle Szenker-Ravi, Sophie Scheidecker, Claire Beneteau
المساهمون: ACS - Heart failure & arrhythmias
المصدر: Human mutation, 41(12), 2167-2178. Wiley-Liss Inc.
مصطلحات موضوعية: Heart Defects, Congenital, Male, midline anomaly, Heterozygote, medicine.medical_specialty, Genetic counseling, Consanguinity, Heterotaxy Syndrome, Biology, DNA sequencing, 03 medical and health sciences, consanguinity, Genetics, medicine, Humans, Family, Family history, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Fetus, Obstetrics, Homozygote, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, heterotaxy, congenital heart defects, Cardiac malformations, Pedigree, fetus, Parental consanguinity, Cytogenetic Analysis, Mutation, Female, next-generation sequencing, Heterotaxy
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المؤلفون: David Geneviève, Jamal Ghoumid, Myriam Mikaty, Hélène Deleersnyder, Nicole Philip, Delphine Héron, Laurence Perrin, Lyse Ruaud, Faustine Ageorge, Adeline Jacquinet, Laurence Faivre, Sophie Chancenotte, Jennifer Gallard, Didier Lacombe, Nicolas Rive Le Gouard, Natacha Lehman, Patrick Edery, Christel Thauvin-Robinet, Sylvie Manouvrier-Hanu, Coralie Rastel, Sylvie Odent, Alain Verloes
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, Retrospective cohort study, Smith–Magenis syndrome, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7487fff69324e511f556a9e467ae8dd1
https://doi.org/10.1111/cge.13906/v2/response1
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