المؤلفون: Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel

المصدر: Genes; Volume 13; Issue 9; Pages: 1668

مصطلحات موضوعية: Male, Parents, Segmental Duplications, Genomic, DiGeorge Syndrome, Genetics, Humans, Child, Homologous Recombination, Alleles, Translocation, Genetic, Genetics (clinical), 22q11.2 Deletion Syndrome, microdeletion, optical mapping, recombination, structural variation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055dc15e4375b079dc7806d8b767ca12Test
https://doi.org/10.3390/genes13091668Test

المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó

المصدر: European journal of medical genetics. 63(10)

مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test

المؤلفون: Yuichiro Sato, Yoshinao Oda, Masahiko Okada, Takako Yoshioka, Mitsutoshi Nakada, Hideo Takeshima, Yohei Mineharu, Junko Hirato, Yasuo Sugita, Sumihito Nobusawa, Tatsuya Yamazaki, Asuka Araki, Satoshi Nakata, Hideaki Yokoo, Akira Nishi, Yuka Yoshida, Kenichi Kohashi, Yoshiki Arakawa

المصدر: Brain Pathol

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Somatic cell, Kidney, Cell morphology, Pathology and Forensic Medicine, Central Nervous System Neoplasms, OLIG2, Young Adult, 03 medical and health sciences, Segmental Duplications, Genomic, Proto-Oncogene Proteins, Glioma, medicine, Humans, Child, Research Articles, biology, General Neuroscience, Mesenchymal stem cell, Brain, Infant, Sarcoma, Exons, Oligodendrocyte Transcription Factor 2, medicine.disease, Neoplasms, Neuroepithelial, Kidney Neoplasms, Repressor Proteins, Neuroepithelial cell, 030104 developmental biology, Child, Preschool, Synaptophysin, biology.protein, Female, Neurology (clinical), Clear cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468caee4bfac9d7a5bbe2c956a3b1daaTest
https://doi.org/10.1111/bpa.12585Test

المؤلفون: Leda Dalprà, Luigina Spaccini, Francesca Crosti, Silvia Maitz, Gaia Roversi, Miriam Rigoldi, Nicoletta Villa, Elena Sala, Angela Bentivegna, Serena Redaelli, Angelo Selicorni, Donatella Conconi

المساهمون: Redaelli, S, Maitz, S, Crosti, F, Sala, E, Villa, N, Spaccini, L, Selicorni, A, Rigoldi, M, Conconi, D, Dalprà, L, Roversi, G, Bentivegna, A

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1095 (2019)
Volume 20
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Male, 16p13.11 deletions and duplications, Microarray, Developmental Disabilities, developmental disability, Genome, speech disorder, lcsh:Chemistry, 0302 clinical medicine, Segmental Duplications, Genomic, Copy-number variation, Child, Homologous Recombination, lcsh:QH301-705.5, Spectroscopy, Segmental duplication, Genetics, Comparative Genomic Hybridization, 16p13.11 deletions and duplication, General Medicine, chromosome 16, Phenotype, Computer Science Applications, Child, Preschool, Female, Chromosome Deletion, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, Karyotype, CNV, Biology, Catalysis, Article, Inorganic Chemistry, 16p11.2 deletions and duplications, 03 medical and health sciences, Young Adult, Chromosome 16, Humans, Abnormalities, Multiple, Physical and Theoretical Chemistry, Molecular Biology, Chromosome Aberrations, Genetic heterogeneity, Organic Chemistry, Infant, Newborn, Infant, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, array-CGH, two-hit model, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b04463dfeb79acf7895996545bc324a4Test
http://hdl.handle.net/10281/221666Test

المؤلفون: Hong Pan, Yinan Ma, Zhi Yi, Hairong Wu, Lin Li, Songtao Wang, Yu Qi

المصدر: European Journal of Medical Genetics. 59:347-353

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, Pediatrics, medicine.medical_specialty, Adolescent, Methyl-CpG-Binding Protein 2, Developmental Disabilities, MECP2 duplication syndrome, Sex Chromosome Disorders, Prenatal diagnosis, 030105 genetics & heredity, Biology, Asymptomatic, Craniofacial Abnormalities, 03 medical and health sciences, Segmental Duplications, Genomic, Neurodevelopmental disorder, Genes, Duplicate, X Chromosome Inactivation, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Family history, Child, Genetics (clinical), Comparative Genomic Hybridization, Facies, Infant, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Hypotonia, Pedigree, Phenotype, Child, Preschool, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f247e8809d58f70499cee673b578f5Test
https://doi.org/10.1016/j.ejmg.2016.05.004Test

المؤلفون: Fabienne Giuliano, Olivier Pichon, Lucile Pinson, Bénédicte Duban-Bedu, Valérie Malan, Emilie Bourel-Ponchel, Rima Nabbout, Mathilde Nizon, Delphine Héron, Marlène Rio, Béatrice Bourgois, Odile Boute, Alice Goldenberg, Sarah Grotto, Sylvie Nusbaum, Odile Raoul, Catherine Turleau, Eric Le Galloudec, Joris Andrieux, Houda Karmous-Benailly, Bruno Delobel, Marie-Christine de Blois, Boris Keren, Martine Le Merrer, Laurence Colleaux, Cédric Le Caignec, Albert David, Serge Romana, Jean-Michel Lapierre, Agnès Roubertie, Didier Lacombe, Caroline Rooryck, Michel Vekemans, Michèle Mathieu-Dramard, Anne-Gaëlle Le Moing

المصدر: American Journal of Medical Genetics Part A. 167:111-122

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Candidate gene, Adolescent, Chromosomal rearrangement, Epilepsy, Segmental Duplications, Genomic, Intellectual disability, Genetics, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), Segmental duplication, Chromosomes, Human, X, Comparative Genomic Hybridization, business.industry, Chromosome Mapping, Electroencephalography, West Syndrome, medicine.disease, Phenotype, Child, Preschool, Cohort, Female, business, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f978123b2d200bc2c3ec23780350be27Test
https://doi.org/10.1002/ajmg.a.36807Test

المؤلفون: Soruba Sivamoorthy, Lakshmi Nagarajan, Tanya Grumball, Julian Ik-Tsen Heng, Ashleigh Murch, Joanne Peverall, Sabine Afchani, John Wray, Matthew S. Edwards, Julie Stampalia, Hamid Alinejad-Rokny, Cathy Kiraly-Borri, Jacqueline Scurlock, Hashika Rijhumal, Fiona Haslam McKenzie, Gareth Baynam, John Beilby, Kim Potts, Hannah Vanyai, Andrew J. O. Whitehouse, Fiona Taylor, Karen J. Woodward

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, TBX1, Adolescent, Autism Spectrum Disorder, Chromosomes, Human, Pair 22, Developmental Disabilities, LCR22B to LCR22D, Genetic counseling, 22q11.2, Penetrance, 030105 genetics & heredity, Biology, 03 medical and health sciences, Segmental Duplications, Genomic, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Molecular Biology, central 22q11.2, Genetics (clinical), Chromosome, Syndrome, Original Articles, Low copy repeats, medicine.disease, Phenotype, Pedigree, duplication, 030104 developmental biology, atypical, Autism spectrum disorder, Child, Preschool, Female, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77316d180315379f9394b871c531564dTest
https://doi.org/10.1002/mgg3.507Test

المؤلفون: Therese B. Nauth, Robin L Hansen, Kian Hui Yeoh, Carl Baker, Santhosh Girirajan, Irva Hertz-Picciotto, Rebecca L. Johnson, Marylyn D. Ritchie, Neerja Katiyar, Isaac N. Pessah, Keolu Fox, Scott B. Selleck, Evan E. Eichler, Jorune Balciuniene, Su Jen Khoo, Flora Tassone, Abhinaya Srikanth

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Male, DNA Copy Number Variations, Population, Biology, Genome, Correlation, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Autistic Disorder, Child, education, Molecular Biology, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, 030304 developmental biology, Segmental duplication, 0303 health sciences, education.field_of_study, Articles, General Medicine, medicine.disease, Vineland Adaptive Behavior Scale, Case-Control Studies, Child, Preschool, Autism, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b85265e13127c72e6837ef8214d8c453Test
https://doi.org/10.1093/hmg/ddt136Test

المؤلفون: Ze Cheng, Santhosh Girirajan, Tiffany H. Vu, Raphael Bernier, Kenneth M. K. Mark, Evan E. Eichler, Megan Y. Dennis, Carl Baker, Catarina D. Campbell, Maika Malig, Bradley P. Coe, Can Alkan, Leslie G. Biesecker

المصدر: The American Journal of Human Genetics. 92(2):221-237

مصطلحات موضوعية: DNA Copy Number Variations, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Gene duplication, mental disorders, Chromosome Duplication, medicine, Genetics, Humans, Heritability of autism, Genetic Predisposition to Disease, Genetics(clinical), Copy-number variation, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Segmental duplication, Gene Rearrangement, 0303 health sciences, Genome, Human, Gene rearrangement, Exons, medicine.disease, Human genetics, Phenotype, Autism spectrum disorder, Child Development Disorders, Pervasive, Case-Control Studies, Autism, Chromosome Deletion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c29ba3935166577fa9d69254c6823b3Test

المؤلفون: William J. Craigen, Ankita Patel, Sherry S. Vinson, M. Williams, Sau Wai Cheung, Sung Hae L. Kang, Patricia I. Bader, James R. Lupski, Przemyslaw Szafranski, John A. Phillips, Vickie L. Hannig, Avinash V. Dharmadhikari, John W. Belmont, Srirangan Sampath, Richard E. Person, Tyler Reimschisel, Siddharth K. Prakash, Pawel Stankiewicz, Weimin Bi, Angus A. Wilfong

المصدر: Human Molecular Genetics. 21:3345-3355

مصطلحات موضوعية: Male, Adolescent, Developmental Disabilities, Locus (genetics), Single-nucleotide polymorphism, Biology, Cell morphology, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Segmental Duplications, Genomic, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, Guanine Nucleotide Exchange Factors, Humans, Child, Molecular Biology, Gene, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Segmental duplication, Epilepsy, Breakpoint, Brain, Infant, Articles, General Medicine, Molecular biology, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Female, Rho Guanine Nucleotide Exchange Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078b95e0bfc02d4932a75ba9ae518a43Test
https://doi.org/10.1093/hmg/dds166Test