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المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, Human Genetics, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, APH - Personalized Medicine, ACS - Pulmonary hypertension & thrombosis

المصدر: Kleinendorst, L, van den Heuvel, L M, Henneman, L & van Haelst, M M 2020, ' Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1196-1204 . https://doi.org/10.1038/s41431-020-0644-6Test
European Journal of Human Genetics
European Journal of Human Genetics, 28(9), 1196-1204. Nature Publishing Group
European journal of human genetics, 28(9), 1196-1204. Nature Publishing Group

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ccbe389fed567d43c8ccace60901570Test
https://doi.org/10.1038/s41431-020-0644-6Test

6

Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review

المؤلفون: Alicja Ilnicka, Anna Kucińska-Chahwan, Beata Nowakowska, Anna Beneturska, Tomasz Roszkowski, Grzegorz Panek, Sylwia Dąbkowska, Julia Bijok

المصدر: Prenatal Diagnosis. 40:612-617

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Chromosomes, Human, Pair 22, Perinatal Death, Trisomy, Prenatal diagnosis, 030105 genetics & heredity, Ultrasonography, Prenatal, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Chromosome Duplication, Humans, Medicine, Abnormalities, Multiple, Clinical significance, Genetics (clinical), Encephalocele, Retrospective Studies, Genetic testing, Polycystic Kidney Diseases, 030219 obstetrics & reproductive medicine, Cephalocele, medicine.diagnostic_test, business.industry, Obstetrics, Mortality rate, Infant, Newborn, Obstetrics and Gynecology, Abortion, Induced, Retrospective cohort study, medicine.disease, Abortion, Spontaneous, Cytoskeletal Proteins, Chromosomes, Human, Pair 6, Female, Amniotic Band Syndrome, Chromosome Deletion, business, Chromosomes, Human, Pair 16, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c93e93c69f768f027bda5a0fd09bb9Test
https://doi.org/10.1002/pd.5654Test

7

t(11;16)(q23;p13)/KMT2A-CREBBP in hematologic malignancies: presumptive evidence of myelodysplasia or therapy-related neoplasm?

المؤلفون: Guillermo Garcia-Manero, Endi Wang, Hagop M. Kantarjian, Shimin Hu, Carlos E. Bueso-Ramos, Young L. Kim, Qi Shen, Yi Zhou, Sanam Loghavi, L. Jeffrey Medeiros, Sa Wang, Wei Xie, Aileen Y. Hu, Guiling Tang, Adam Cloe

المصدر: Annals of Hematology. 99:487-500

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Databases, Factual, Oncogene Proteins, Fusion, Malignancy, Risk Assessment, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Topoisomerase II Inhibitors, Cytotoxic T cell, Neoplasm, Pathological, Aged, Aged, 80 and over, Hematology, biology, business.industry, Chromosomes, Human, Pair 11, Myeloid leukemia, Neoplasms, Second Primary, Histone-Lysine N-Methyltransferase, General Medicine, Middle Aged, medicine.disease, CREB-Binding Protein, Leukemia, Myeloid, Acute, KMT2A, Dysplasia, Hematologic Neoplasms, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, biology.protein, Female, business, Chromosomes, Human, Pair 16, Myeloid-Lymphoid Leukemia Protein, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35323f8db4c2f5ebab8914b85eb23407Test
https://doi.org/10.1007/s00277-020-03909-7Test

8

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

المؤلفون: Alexandre Reymond, Borja Rodriguez-Herreros, Stefan Ehrlich, Tiago Reis Marques, Roberto Roiz-Santiañez, Barbara Franke, Henry Brodaty, Ryota Hashimoto, Tobias Kaufmann, Thomas Gareau, Gary Donohoe, Masataka Kikuchi, David Ames, Greig I. de Zubicaray, Vince D. Calhoun, Zdenka Pausova, Anouk den Braber, Laurena Holleran, Katharina Wittfeld, Roel A. Ophoff, G. Bragi Walters, Sandra Martin-Brevet, Karen A. Mather, Dan J. Stein, Costin Leu, Rachel M. Brouwer, Norman Delanty, Nicholas G. Martin, Arvid Lundervold, Jean Shin, Geneviève Richard, Dorret I. Boomsma, Gudrun A. Jonsdottir, Emma Knowles, Margie Wright, Magnus O. Ulfarsson, Yunpeng Wang, Thomas W. Mühleisen, Vincent Frouin, Andrew J. Schork, Peter R. Schofield, Michael Andersson, Katrin Amunts, Hans J. Grabe, Wei Wen, Manon Bernard, James Rucker, Anbu Thalamuthu, Hans-Richard Brattbak, Joanne E. Curran, Hidenaga Yamamori, Bruce Pike, Brenda W.J.H. Penninx, Derek W. Morris, Masaki Fukunaga, Aiden Corvin, René S. Kahn, John Blangero, Yuri Milaneschi, Nynke A. Groenewold, Mark McCormack, Allan F. McRae, Clara Moreau, Gunter Schumann, Robin M. Murray, Bogdan Draganski, Simone Ciufolini, Carlos Prieto, Diana Tordesillas-Gutiérrez, Astri J. Lundervold, Sinead Kelly, Simon E. Fisher, Erik G. Jönsson, Stefan Johansson, Neda Jahanshad, Elena Shumskaya, Christopher D. Whelan, Tomáš Paus, Evangelos Vassos, Tetyana Zayats, Sébastien Jacquemont, Benedicto Crespo-Facorro, Erin Burke Quinlan, Anja Vaskinn, Ingrid Agartz, Knut K. Kolskår, Robin Bülow, Alexander Teumer, Sven Cichon, Neeltje E.M. van Haren, Jayne Y. Hehir-Kwa, Anders M. Dale, Nhat Trung Doan, Stephanie Le Hellard, John B.J. Kwok, Lars Nyberg, Sigrid Botne Sando, Omar Gustafsson, Gianpiero L. Cavalleri, Andreas Heinz, Ida E Sønderby, Sonja M C de Zwarte, Hreinn Stefansson, Derrek P. Hibar, Daniel Quintana, Vidar M. Steen, Jouke-Jan Hottenga, Paola Dazzan, David C. Glahn, Shareefa Dalvie, Lars T. Westlye, Nicholas B. Blackburn, Loes M. Olde Loohuis, Kari Stefansson, Dennis van der Meer, Lianne Schmaal, Anne Uhlmann, Nicola J. Armstrong, Stacy Steinberg, Christiane Jockwitz, Jarek Rokicki, Hilleke E Hulshoff, Sanjay M. Sisodiya, Anne-Marthe Sanders, Jan Haavik, Perminder S. Sachdev, Asta Håberg, Samuel R. Mathias, Dennis van 't Ent, Torill Ueland, Per Hoffmann, Terry L. Jernigan, Abdel Abdellaoui, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda, Paul M. Thompson, Eco J. C. de Geus, Céline S. Reinbold, Jingyu Liu, Juan M. Peralta, Sara Pudas, Jan Egil Nordvik, Srdjan Djurovic, David Mothersill, Lachlan T. Strike, Chi-Hua Chen, Jessica A. Turner, Manon H.J. Hillegers, Thomas Espeseth, Janita Bralten, Katie L. McMahon

المساهمون: APH - Methodology, APH - Mental Health, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Rafmagns- og tölvuverkfræðideild (HÍ), Faculty of Electrical and Computer Engineering (UI), Læknadeild (HÍ), Faculty of Medicine (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, 16p11.2 European Consortium, for the ENIGMA-CNV working group, Child and Adolescent Psychiatry / Psychology, Epidemiology and Data Science, Neurology, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Digital Health

المصدر: Molecular Psychiatry
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1Test
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1Test
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1Test

مصطلحات موضوعية: Male, 0301 basic medicine, Netherlands Twin Register (NTR), genetics [Chromosome Disorders], Pathology, Databases, Factual, Autism, Taugasjúkdómar, methods [Magnetic Resonance Imaging], 0302 clinical medicine, pathology [Basal Ganglia], pathology [Brain], methods [Image Processing, Computer-Assisted], Chromosome Duplication, Basal ganglia, pathology [Globus Pallidus], genetics [Schizophrenia], Copy-number variation, pathology [Putamen], medicine.diagnostic_test, Einhverfa, Gen, genetics [Neurodevelopmental Disorders], Putamen, Neurodevelopmental disorders, Middle Aged, Microdeletion syndrome, 3. Good health, Psychiatry and Mental health, genetics [Chromosomes, Human, Pair 16], Globus pallidus, Schizophrenia, genetics [Autism Spectrum Disorder], Female, Chromosome Deletion, Medical Genetics, Adult, Neuroinformatics, medicine.medical_specialty, genetics [DNA Copy Number Variations], Article, genetics [Autistic Disorder], 03 medical and health sciences, Cellular and Molecular Neuroscience, SDG 17 - Partnerships for the Goals, Geðklofi, medicine, Humans, ddc:610, Molecular Biology, Medicinsk genetik, CNVs, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], genetics [Organ Size], business.industry, Brain morphometry, Magnetic resonance imaging, medicine.disease, 030104 developmental biology, genetics [Intellectual Disability], business, Psychiatric disorders, 030217 neurology & neurosurgery, Neuroscience

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8892573af184bdde7b49c9035bbb920dTest
https://doi.org/10.1038/s41380-018-0118-1Test

9

Characteristics and outcome of patients with acute myeloid leukaemia and t(8;16)(p11;p13): results from an International Collaborative Study

مصطلحات موضوعية: Male, Oncogene Proteins, Fusion, International Cooperation, medicine.medical_treatment, Abnormal Karyotype, Gastroenterology, Translocation, Genetic, chemistry.chemical_compound, 0302 clinical medicine, hemic and lymphatic diseases, Antineoplastic Combined Chemotherapy Protocols, Remission Induction, Hematopoietic Stem Cell Transplantation, Neoplasms, Second Primary, Hematology, Middle Aged, Combined Modality Therapy, 3. Good health, Leukemia, Myeloid, Acute, RUNX1, 030220 oncology & carcinogenesis, Disease Progression, Female, Myeloid leukaemia, Abnormality, Chromosomes, Human, Pair 8, Adult, medicine.medical_specialty, Adolescent, MLH1, Disease-Free Survival, 03 medical and health sciences, Internal medicine, Complex Karyotype, medicine, Humans, Survival rate, neoplasms, Aged, Chemotherapy, Whole Genome Sequencing, business.industry, Cytogenetics, Survival Analysis, Consolidation Chemotherapy, chemistry, Myelodysplastic Syndromes, Mutation, business, Chromosomes, Human, Pair 16, Follow-Up Studies, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff05dfb4c0cfe20e3c626f735710e68aTest

10

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

المؤلفون: Meshael Alharbi, Shahad Haddad, Majid Alfadhel, Abeer Al Tuwaijri, Maha Al-Ghuraibi, Muhammad Umair, Yusra Alyafee, Sahar Al-Showaier, Qamre Alam, Hayat Ahmed Alrabiah

المصدر: Genes, Vol 12, Iss 461, p 461 (2021)
Genes
Volume 12
Issue 4

مصطلحات موضوعية: Adult, 0301 basic medicine, Infertility, medicine.medical_specialty, lcsh:QH426-470, medicine.medical_treatment, Saudi Arabia, Aneuploidy, Fertilization in Vitro, Article, Paternal Age, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Embryo Implantation, Genetic Testing, aneuploidy, Genetics (clinical), Aged, Genetic testing, Chromosome Aberrations, euploidy, 030219 obstetrics & reproductive medicine, In vitro fertilisation, medicine.diagnostic_test, Obstetrics, business.industry, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Blastomere, Middle Aged, Embryo Transfer, medicine.disease, Embryo transfer, lcsh:Genetics, 030104 developmental biology, Female, preimplantation genetic testing for aneuploidy (PGTA), Abnormality, business, Chromosomes, Human, Pair 16, embryos, Maternal Age

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48288b658ad3bd775c073f331f562336Test
https://www.mdpi.com/2073-4425/12/4/461Test

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