المؤلفون: Dias, Cristina, Estruch, Sara B, Graham, Sarah A, McRae, Jeremy, Sawiak, Stephen J, Hurst, Jane A, Joss, Shelagh K, Holder, Susan E, Morton, Jenny E V, Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F, Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E, Fisher, Simon E, Logan, Darren W.

المصدر: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & ....

مصطلحات موضوعية: Animals, Carrier Proteins/chemistry, Cerebral Cortex/metabolism, Chromatin Assembly and Disassembly/genetics, Codon, Nonsense/genetics, Cognition Disorders/genetics, Frameshift Mutation/genetics, Haploinsufficiency/genetics, Hippocampus/metabolism, Humans, Intellectual Disability/genetics, Male, Mice, Microcephaly/genetics, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Nuclear Proteins/chemistry, Phenotype, Social Behavior, Syndrome, Transcription Factors/chemistry, Transcription, Genetic, Transcriptome

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/7bac2c7b-2843-4c7e-b9b7-d21307408416
https://doi.org/10.1016/j.ajhg.2016.05.030
https://kclpure.kcl.ac.uk/ws/files/141954613/BCL11A_Haploinsufficiency_Causes_DIAS_Publishedonline21July2016_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84994127960&partnerID=8YFLogxK

المؤلفون: Dias, Cristina, Estruch, Sara B, Graham, Sarah A, McRae, Jeremy, Sawiak, Stephen J, Hurst, Jane A, Joss, Shelagh K, Holder, Susan E, Morton, Jenny E V, Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F, Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E, Fisher, Simon E, Logan, Darren W.

المصدر: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & ....

مصطلحات موضوعية: Animals, Carrier Proteins/chemistry, Cerebral Cortex/metabolism, Chromatin Assembly and Disassembly/genetics, Codon, Nonsense/genetics, Cognition Disorders/genetics, Frameshift Mutation/genetics, Haploinsufficiency/genetics, Hippocampus/metabolism, Humans, Intellectual Disability/genetics, Male, Mice, Microcephaly/genetics, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Nuclear Proteins/chemistry, Phenotype, Social Behavior, Syndrome, Transcription Factors/chemistry, Transcription, Genetic, Transcriptome

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/bcl11a-haploinsufficiency-causes-an-intellectual-disability-syndrome-and-dysregulates-transcription(7bac2c7b-2843-4c7e-b9b7-d21307408416).html
https://doi.org/10.1016/j.ajhg.2016.05.030
https://kclpure.kcl.ac.uk/ws/files/141954613/BCL11A_Haploinsufficiency_Causes_DIAS_Publishedonline21July2016_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84994127960&partnerID=8YFLogxK

المؤلفون: Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

المصدر: The American Journal of Human Genetics ; volume 99, issue 2, page 253-274 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2016.05.030
https://api.elsevier.com/content/article/PII:S0002929716302014?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929716302014?httpAccept=text/xml

المؤلفون: Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song Choon, Faivre, Laurence, Sawiak, Stephen J., McRae, Jeremy, Graham, Sarah A., Estruch, Sara B., Dias, Cristina

Relation: American Journal of Human Genetics; American Journal of Human Genetics, 2016, v. 99, n. 2, p. 253-274; 274; eid_2-s2.0-84994127960; 253; http://hdl.handle.net/10722/248990; 99

الاتاحة: https://doi.org/10.1016/j.ajhg.2016.05.030
http://hdl.handle.net/10722/248990

المؤلفون: Dias, Cristina, Estruch, Sara b., Graham, Sarah a., Mcrae, Jeremy, Sawiak, Stephen j., Hurst, Jane a., Joss, Shelagh k., Holder, Susan e., Morton, Jenny e.V., Turner, Claire, Thévenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui f., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew e., Fisher, Simon e., Logan, Darren w.

المساهمون: Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), 849 Department of Human Genetics, Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute Cambridge, Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: de-novo mutations, 2p15p16.1 microdeletion syndrome, autism spectrum disorders, epileptic encephalopathies, cell-differentiation, lymphoid development, projection neurons, neural development, axon guidance, genes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-01680178; https://u-bourgogne.hal.science/hal-01680178; PUBMEDCENTRAL: PMC4974071

الاتاحة: https://u-bourgogne.hal.science/hal-01680178
https://doi.org/10.1016/j.ajhg.2016.05.030

المؤلفون: Dias, Cristina, Estruch, Sara b., Graham, Sarah a., Mcrae, Jeremy, Sawiak, Stephen j., Hurst, Jane a., Joss, Shelagh k., Holder, Susan e., Morton, Jenny e.V., Turner, Claire, Thévenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui f., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew e., Fisher, Simon e., Logan, Darren w.

المساهمون: Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), 849 Department of Human Genetics, Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute Cambridge, Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: de-novo mutations, 2p15p16.1 microdeletion syndrome, autism spectrum disorders, epileptic encephalopathies, cell-differentiation, lymphoid development, projection neurons, neural development, axon guidance, genes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-01680178; https://u-bourgogne.hal.science/hal-01680178; PUBMEDCENTRAL: PMC4974071

الاتاحة: https://u-bourgogne.hal.science/hal-01680178
https://doi.org/10.1016/j.ajhg.2016.05.030