نتائج البحث - "Karine Siquier"

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Great Ormond Street Institute of Child Health (UCL), University College of London [London] (UCL), Maison de Santé Protestante de Bordeaux-Bagatelle (MSPB), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), URC, hôpital Necker Enfants Maladies, Paris, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Sultan Qaboos University (SQU), Peninsula Medical School, University Hospitals Bristol, Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux, Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-16-CE12-0005,SCD-Mec,Mécanismes développementaux des anomalies structurelles cérébelleuses(2016)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Am J Hum Genet

مصطلحات موضوعية: Brain Diseases, Developmental Disabilities, Neurogenesis, Histone-Lysine N-Methyltransferase, Nervous System Malformations, Article, Mice, Purkinje Cells, Cerebellum, Mutation, Genetics, Animals, Humans, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Genetics (clinical), Zebrafish, ComputingMilieux_MISCELLANEOUS, Brain Stem, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7a9db33865434b1804b62cde18c38
https://amu.hal.science/hal-03654319

6

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

المصدر: Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)

مصطلحات موضوعية: General Medicine, Hematologic Diseases, Histone Code, Phenotype, Vestibular Diseases, Transcription Factor TFIIA, Face, Endopeptidases, Genetics, Histone Methyltransferases, Animals, Abnormalities, Multiple, Original Article, Molecular Biology, Genetics (clinical), Zebrafish

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82b1a14904cdc0173758c0e7464c36e
https://pubmed.ncbi.nlm.nih.gov/35512351

7

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

المؤلفون: Romain Nicolle, Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel, Valérie Malan

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Chromosome Aberrations, Segmental Duplications, Genomic, Whole Genome Sequencing, Genetics, Chromosome Mapping, Humans, Genomics, Syndrome, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f233684735fca1668360c52a6306dd65
https://pubmed.ncbi.nlm.nih.gov/35388186

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8

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

المؤلفون: Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer

المصدر: NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, General Physics and Astronomy, 0302 clinical medicine, Neurodevelopmental disorder, Loss of Function Mutation, RNA-Seq, Neurons, Regulation of gene expression, Myoclonic Cerebellar Dyssynergia, Multidisciplinary, Neurodevelopmental disorders, Developmental disorders, Rigor Mortis, Gene Expression Regulation, Developmental, SMN Complex Proteins, Ribonucleoproteins, Small Nuclear, Hypotonia, Pedigree, Cell biology, medicine.anatomical_structure, Child, Preschool, Gene Knockdown Techniques, Muscle Hypotonia, Drosophila, Female, medicine.symptom, Ataxia, Science, Induced Pluripotent Stem Cells, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, medicine, Animals, Humans, snRNP, Amino Acid Sequence, Alleles, Loss function, Cerebellar ataxia, General Chemistry, Motor neuron, medicine.disease, Gene Ontology, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed9687e3344ab597c47489b1520ba6f
https://doi.org/10.1038/s41467-021-22627-w

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9

Caractérisation par FISH, cartographie optique du génome et séquençage haut débit de génome de deux cas de triplication 16p13.11p11.2

المؤلفون: Serge Romana, Vincent Cantagrel, Valérie Malan, Karine Siquier-Pernet, Marlène Rio, Romain Nicolle, Emmanuelle Olivier, Patrick Nitschke, Christine Bole-Feysot, Alex Hastie, Anne Guimier

المصدر: Morphologie. 105:S16-S17

مصطلحات موضوعية: Anatomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a31e4d5150ca92a8e7a0f8e83399342b
https://doi.org/10.1016/j.morpho.2021.05.033

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10

Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders

المؤلفون: Marcie A. Steeves, Marjorlaine Willems, Siddharth Banka, Yline Capri, Michael J. Parker, Stephanie Greville-Heygate, Emma Clement, David Goudie, Vincent Cantagrel, Diana Rodriguez, Marlène Rio, Matthew Guille, Htoo A Wai, Anne Debant, Ajoy Sarkar, Fleur Vansenne, Frédéric Tran Mau-Them, Peter D Turnpenny, Audrey Putoux, Christine Fagotto-Kaufmann, Karine Siquier-Pernet, Bert B.A. de Vries, Boris Keren, Maxime Bonnet, Lydie Burglen, Sébastien Moutton, Marion Gérard, Susanne Schmidt, Diana Baralle, Sónia Barbosa, Benjamin Cogné, Damien Laouteouet, Amélie Piton, Helen Cox, Rebecca Mawby, Marie Vincent, Annie Godwin, Andrey V. Kajava, Sarju G. Mehta, Alexander J. M. Dingemans, Jozef Hertecant, Jayne Y. Hehir-Kwa, Gaetan Lesca

المساهمون: Centre de recherche en Biologie Cellulaire (CRBM), Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1)

المصدر: C4RCD Research Group 2020, ' Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩

مصطلحات موضوعية: Male, rac1 GTP-Binding Protein, 0301 basic medicine, Microcephaly, INTELLECTUAL DISABILITY, [SDV]Life Sciences [q-bio], APC-PAID, medicine.disease_cause, Cohort Studies, PATHWAY, 0302 clinical medicine, Guanine Nucleotide Exchange Factors, Missense mutation, Spectrin, microcephaly, GEF, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Genetics, Mutation, Spectrin repeat, Phenotype, intellectual disability, BBSRC, Female, Nonsense mutation, autism, Protein Serine-Threonine Kinases, Biology, macrocephaly, RHO-GTPASES, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Humans, Amino Acid Sequence, BB/R014841/1, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Sequence Homology, Amino Acid, RCUK, medicine.disease, HEK293 Cells, 030104 developmental biology, XENOPUS, Neurodevelopmental Disorders, Axon guidance, 030217 neurology & neurosurgery, SPERM

وصف الملف: text; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6feb0d914090bef0d0a94f376bcc6f
https://eprints.soton.ac.uk/438435/

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