نتائج البحث - "genomic disorders"

1

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

المصدر: Clinical Genetics. 92:415-422

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test

2

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

المؤلفون: Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk

المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Microcirculation, Paediatric Nephrology

المصدر: Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group

مصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, endocrine system diseases, Kidney, 0302 clinical medicine, Copy-number variation, deletion, Urinary Tract, Obstructive uropathy, Genetics, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genomics, digeorge-syndrome, Microdeletion syndrome, 3. Good health, medicine.anatomical_structure, Female, vitamin-a, branching morphogenesis, Chromosome Deletion, candidate genes, renal replacement therapy, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urinary system, Locus (genetics), Biology, Vesicoureteral reflux, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, genomic disorders, 030304 developmental biology, Vesico-Ureteral Reflux, disease, Extramural, rare variants, medicine.disease, mutations, Urogenital Abnormalities, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277Test
https://ruj.uj.edu.pl/xmlui/handle/item/108818Test

3

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

المؤلفون: Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.

المصدر: American Journal of Medical Genetics. Part a

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::121c9c23ea583f3e8bc7bb42959067ebTest
http://europepmc.org/articles/PMC4849199Test

4

Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa

المؤلفون: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes

المساهمون: Immunology, Ophthalmology

المصدر: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705

مصطلحات موضوعية: Adult, Male, Proband, Oncology, medicine.medical_specialty, Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Visual Acuity, Mevalonic Acid, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Fluorescein Angiography, Exome sequencing, Mevalonate kinase deficiency, biology, business.industry, Genetic heterogeneity, Mevalonate kinase, Middle Aged, medicine.disease, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, Mutation, biology.protein, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Retinitis Pigmentosa, Tomography, Optical Coherence

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17Test
https://doi.org/10.1016/j.ophtha.2013.07.052Test

5

Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7

مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test

6

Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95

مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test

7

Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome-wide association study of both common and rare variants

المؤلفون: Yang, Li, Neale, Benjamin M., Liu, Lu, Lee, S. Hong, Wray, Naomi R., Ji, Ning, Li, Haimei, Qian, Qiujin, Wang, Dongliang, Li, Jun, Faraone, Stephen V., Wang, Yufeng, Doyle, Alysa, Reif, Andreas, Rothenberger, Aribert, Franke, Barbara, Sonuga-Barke, Edmund J.S., Steinhausen, Hans-Christoph, Buitelaar, Jan K, Kuntsi, Jonna, Biederman, Joseph, Lesch, Klaus Peter, Kent, Lindsey, Asherson, Philip, Oades, Robert D., Loo, Sandra K., Nelson, Stanley F., Smalley, Susan L., Banaschewski, Tobias, Vasquez, Alejandro Arias, Todorov, Alexandre, Charach, A., Miranda, Ana, Warnke, Andreas, Thapar, Anita, Cormand, B., Freitag, Christine, Mick, Eric, Mulas, Fernando, Middleton, Frank, Hakonarson, Hakon, Pálmason, Haukur, Schäfer, Helmut, Roeyers, Herbert, McGough, James J., Romanos, Jasmin, Crosbie, J., Meyer, Jobst, Ramos-Qiroga, J.A., Sergeant, Joseph A, Elia, Josephine, Langely, Kate, Nisenbaum, Laura, Romanos, Marcel, Daly, Mark, Ribases, M., Gill, Michael, O’Donovan, Michael, Owen, Michael, Casas, M., Bayes, M., Lambregts-Rommelse, Nanda, Williams, Nigel, Holmans, Peter, Anney, Richard J.L., Ebstein, Richard, Schachar, R., Medland, Sarah E., Ripke, Stephan, Walitza, Susanne, Nguyen, Thuy Trang, Renner, Tobias J., Hu, Xiaolan

المساهمون: Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: MHeNs School for Mental Health and Neuroscience, Yang, Li, Neale, Benjamin M, Liu, Lu, Lee, S Hong, Wray, Naomi R, Ji, Ning, Li, Haimei, Qian, Qiujin, Wang, Dongliang, Li, Jun, Faraone, Stephen V, Wang, Yufeng, Psychiatric GWAS Consortium: ADHD Subgroup

المصدر: American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 162B(5), 419-430. Wiley
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 162B, 419-30
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 162B, 5, pp. 419-30

مصطلحات موضوعية: Male, Adolescent, DCN MP - Plasticity and memory, Medizin, SNP, Single-nucleotide polymorphism, Genome-wide association study, DCN PAC - Perception action and control, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Correlation, single nucleotide polymorphisms, Cellular and Molecular Neuroscience, Polymorphism (computer science), attention-deficit hyperactivity disorder, mental disorders, medicine, ddc:61, Humans, ADHD, GWAS, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Copy-number variation, Child, Genetics (clinical), Genetics & Heredity, Psychiatry, Genetics, neurodevelopment, pathway, Case-control study, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, genetic architecture, Genetic architecture, Psychiatry and Mental health, polygenic disorders, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Female, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8716900432f90604e2c87cec43f69b6Test
https://doi.org/10.1002/ajmg.b.32169Test

8

Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy

المؤلفون: S. H. Powis, Robert Kleta, Marieke J H Coenen, Anne Boland-Augé, Peter W. Mathieson, Paul Brenchley, Hanna Debiec, Jack F.M. Wetzels, Johanne M. Groothuismink, Bénédicte Stengel, Horia Stanescu, Alan Medlar, Julia M. Hofstra, Pierre Ronco, Detlef Bockenhauer

المساهمون: Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Department of Nephrology [Nijmegen, The Netherlands], Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Nephrology [London, UK], University College of London [London] (UCL), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Academic Renal Unit [Bristol, UK], University of Bristol [Bristol], School of Biomedicine [Manchester, UK], University of Manchester [Manchester], The research leading to these results has received funding from the European Community’s Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)' (to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the FrenchFoundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d’aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., Department of Human Genetics, Department of nephrology, Remodelage et Reparation du Tissu Renal, Centre for Nephrology, Equipe 10, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Academic Renal Unit, School of Biomedicine, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The research leading to these results has received funding from the European Community's Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)'(to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the French Foundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d'aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., RONCO, Pierre, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Radboud University Medical Centre [Nijmegen, The Netherlands], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)

المصدر: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 24, 4, pp. 677-83
Journal of the American Society of Nephrology; Vol 24
Journal of the American Society of Nephrology, 24, 677-83

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, MESH: Glomerulonephritis, Membranous, 030232 urology & nephrology, Glomerulonephritis, Membranous, Exon, 0302 clinical medicine, Coding region, MESH: Genomic Structural Variation, Renal disorder [IGMD 9], MESH: Aged, Genetics, Sanger sequencing, 0303 health sciences, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, General Medicine, Middle Aged, 3. Good health, Nephrology, symbols, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Adult, dbSNP, Sequence analysis, Biology, Polymorphism, Single Nucleotide, Mental health [NCEBP 9], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, symbols.namesake, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Receptors, Phospholipase A2, Humans, Genetic Predisposition to Disease, Allele, 1000 Genomes Project, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Gene, Aged, 030304 developmental biology, MESH: Humans, Receptors, Phospholipase A2, MESH: Adult, Sequence Analysis, DNA, Molecular biology, MESH: Male, Genomic Structural Variation, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b192b20a06677d3bf650e3bd66ad35fTest
https://doi.org/10.1681/asn.2012070730Test

9

High loading of polygenic risk for ADHD in children with comorbid aggression

المؤلفون: Stephen V. Faraone, Aribert Rothenberger, Tobias J. Renner, Tobias Banaschewski, Alejandro Arias Vasquez, Marcel Romanos, Richard Anney, J. J. McGough, Michael Conlon O'Donovan, Philip Asherson, Alysa E. Doyle, Stephan Ripke, Barbara Franke, Lindsey Kent, Jasmin Romanos, Andrew Merwood, Benjamin M. Neale, Klaus-Peter Lesch, Peter Holmans, Nigel Williams, Andreas Reif, Joanna Martin, Jonna Kuntsi, Jan Buitelaar, Hans-Christoph Steinhausen, Edmund J.S. Sonuga-Barke, Christine M. Freitag, Anita Thapar, Kate Langley, Evangelia Stergiakouli, Nanda Lambregts-Rommelse, Marian L. Hamshere, Herbert Roeyers, Sharifah Shameem Agha, Hakon Hakonarson, Joseph Biederman, Andreas Warnke, Michael John Owen, Haukur Palmason, Sarah E. Medland, Robert D. Oades, Jobst Meyer

المساهمون: University of Zurich, Thapar, Anita, Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: CARIM School for Cardiovascular Diseases, RS: MHeNs School for Mental Health and Neuroscience

المصدر: AMERICAN JOURNAL OF PSYCHIATRY
The American Journal of Psychiatry
Hamshere, M L, Langley, K, Martin, J, Agha, S S, Stergiakouli, E, Anney, R J L, Buitelaar, J, Faraone, S V, Lesch, K-P, Neale, B M, Franke, B, Sonuga-Barke, E, Asherson, P, Merwood, A, Kuntsi, J, Medland, S E, Ripke, S, Steinhausen, H-C, Freitag, C, Reif, A, Renner, T J, Romanos, M, Romanos, J, Warnke, A, Meyer, J, Palmason, H, Vasquez, A A, Lambregts-Rommelse, N, Roeyers, H, Biederman, J, Doyle, A E, Hakonarson, H, Rothenberger, A, Banaschewski, T, Oades, R D, McGough, J J, Kent, L, Williams, N, Owen, M J, Holmans, P, O'Donovan, M C & Thapar, A 2013, ' High loading of polygenic risk for ADHD in children with comorbid aggression ', American Journal of Psychiatry, vol. 170, no. 8, pp. 909-16 . https://doi.org/10.1176/appi.ajp.2013.12081129Test
The American journal of psychiatry, vol 170, iss 8
American Journal of Psychiatry, 170(8), 909-916. American Psychiatric Publishing, Inc.
American Journal of Psychiatry, 170, 909-16
American Journal of Psychiatry, 170, 8, pp. 909-16

مصطلحات موضوعية: Male, Multifactorial Inheritance, SYMPTOMS, Medizin, Poison control, Social Sciences, Genome-wide association study, Comorbidity, Logistic regression, Medical and Health Sciences, 2738 Psychiatry and Mental Health, 0302 clinical medicine, Child, Psychiatry, ATTENTION-DEFICIT/HYPERACTIVITY DISORDER, Articles, ANTISOCIAL-BEHAVIOR, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], New Research, 10058 Department of Child and Adolescent Psychiatry, Anxiety Disorders, Aggression, Psychiatry and Mental health, Conduct disorder, Child, Preschool, Female, medicine.symptom, Psychology, Clinical psychology, Conduct Disorder, medicine.medical_specialty, GENETIC-BASIS, 610 Medicine & health, behavioral disciplines and activities, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, mental disorders, medicine, Attention deficit hyperactivity disorder, ddc:61, Humans, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, GENOME-WIDE ASSOCIATION, AUTISM, Preschool, DEFICIT-HYPERACTIVITY-DISORDER, Depressive Disorder, Psychology and Cognitive Sciences, Genetic Variation, medicine.disease, OPPOSITIONAL DEFIANT, United Kingdom, 030227 psychiatry, Attention Deficit Disorder with Hyperactivity, DE-NOVO MUTATIONS, CONDUCT DISORDER, Autism, 030217 neurology & neurosurgery

وصف الملف: Hamshere_2013,_High_loading_of_polygenic_risk_for_ADHD_in_children_with_comorbid_aggression.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818f557eda5b443f5af1a4a9d37c2fecTest
https://doi.org/10.1176/appi.ajp.2013.12081129Test

10

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

المؤلفون: Carlo Marcelis, Rolph Pfundt, Bart C.W. Kuipers, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout

المصدر: Clinical Dysmorphology, 22, 1, pp. 18-21
Clinical Dysmorphology, 22, 18-21

مصطلحات موضوعية: Male, Candidate gene, Prominent forehead, Haploinsufficiency, GPI-Linked Proteins, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Short philtrum, Dysmorphic facial features, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, business.industry, Neuropeptides, Infant, General Medicine, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], DNA-Binding Proteins, Feeding problems, Facial Asymmetry, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 6, Female, Syndactyly, Anatomy, Chromosome Deletion, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8c255dfe5b4731ba8b6b01e58a866eTest
https://doi.org/10.1097/mcd.0b013e32835b6e39Test

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