المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c1b75f551f3d9ba05ded3008e83778Test
http://link.springer.com/article/10.1038/s41598-020-69134-4Test

المؤلفون: Lisanne Vervoort, Tamim H. Shaikh, Beverly S. Emanuel, Elfi Vergaelen, Ming Xiao, Steven Pastor, Wolfram Demaerel, Donna M. McDonald-McGinn, Matthew S. Hestand, Ann Swillen, Yulia Mostovoy, Elizabeth A. Geiger, Pui-Yan Kwok, Joris Vermeesch, Bernice E. Morrow, Curtis R. Coughlin, Stephen K. Chow, Feyza Yilmaz

المصدر: Genome research, vol 29, iss 9

مصطلحات موضوعية: Primates, Genome instability, 22q11 Deletion Syndrome, Evolution, Bioinformatics, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, Biology, Medical and Health Sciences, Genome, Chromosomes, Fluorescence, Repetitive Sequences, Cell Line, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Chromosomal Instability, Chromosome instability, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Allele, In Situ Hybridization, Fluorescence, In Situ Hybridization, Genetics (clinical), Repetitive Sequences, Nucleic Acid, 030304 developmental biology, 0303 health sciences, Nucleic Acid, Research, Human Genome, Chromosome Mapping, Molecular, Low copy repeats, Biological Sciences, Evolutionary biology, Pair 22, Chromosome 22, 030217 neurology & neurosurgery, Human

وصف الملف: Print; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce69d30c7c07cbca901d9297cc285853Test
https://doi.org/10.1101/gr.248682.119Test

المؤلفون: Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Jeroen Breckpot, Adrian Odrzywolski, Lisanne Vervoort, Anne S. Bassett, Ania Fiksinski, Bernice E. Morrow, Laura Yissel Rengifo, Donna M. McDonald-McGinn, Vandana Shashi, Jacob A. S. Vorstman, Tracy Heung, Wolfram Demaerel, Joris Vermeesch, Janneke Zinkstok, Koen Devriendt, Eva W.C. Chow

المصدر: Hum Mol Genet

مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 22, Chromosome Breakpoints, Biology, Chromosomes, Article, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Genetics, DiGeorge Syndrome, Humans, International 22q11.2 Brain, Allele, Homologous Recombination, Molecular Biology, Genetics (clinical), Alleles, In Situ Hybridization, Fluorescence, 030304 developmental biology, Segmental duplication, Sequence (medicine), Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, Breakpoint, Chromosome, Chromosome Mapping, General Medicine, Chromosome Inversion, Female, Chromosome Deletion, Homologous recombination, 030217 neurology & neurosurgery, Behavior Consortium

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b9d251281485d3e8559478d6dd331cTest
https://pubmed.ncbi.nlm.nih.gov/31884517Test

المؤلفون: Gabriela M. Repetto, Wolfram Demaerel, Carrie E. Bearden, Doron Gothelf, Stephan Eliez, Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M. McDonald-McGinn, Beverly S. Emanuel, Anne S. Bassett, Matthew S. Hestand, Joris Vermeesch, Behavior Consortia, Christian R. Marshall, Ann Swillen, Liangtian Zhang, Jacob A. S. Vorstman, Jeroen Breckpot, Bernice E. Morrow, Felipe Benavides Gonzalez, Wendy R. Kates, Cristina Montagna, Jidong Shan, Maude Schneider, Deyou Zheng, Francisco Ujueta, Yingjie Zhao, Terrence B. Crowley, Elaine H. Zackai, Leila Kushan-Wells

المصدر: Human molecular genetics, vol 27, iss 7
Human Molecular Genetics (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Recombination hotspot, Chromosomes, Human, Pair 22, Biology, Medical and Health Sciences, Chromosomes, 03 medical and health sciences, ddc:616.89, Congenital, 0302 clinical medicine, Rare Diseases, DiGeorge syndrome, Gene duplication, medicine, DiGeorge Syndrome, Genetics, International Chromosome 22q11.2, Humans, Molecular Biology, Genetics (clinical), Alleles, Pediatric, Genetics & Heredity, Haplotype, Breakpoint, Chromosome, Chromosome Mapping, International 22q11.2 Brain and Behavior Consortia, General Medicine, Low copy repeats, Articles, Biological Sciences, medicine.disease, Meiosis, 030104 developmental biology, Female, Pair 22, Chromosome Deletion, Homologous recombination, 030217 neurology & neurosurgery, Human, Biotechnology

وصف الملف: Print; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efaab2f24a124973746e46fc8f0b544cTest
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddy028Test

المؤلفون: James R. Lupski, Melanie Babcock, Bernice E. Morrow, Pawel Stankiewicz, Svetlana A. Yatsenko

المصدر: Genome Research. 17:451-460

مصطلحات موضوعية: Male, Letter, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, Chromosome Disorders, Biology, Genome, Gene Duplication, Heterochromatin, Gene duplication, Genetics, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Segmental duplication, Chromosome Aberrations, Chromosomes, Human, Y, Autosome, Base Sequence, Genome, Human, Chromosome Mapping, Chromosome, Low copy repeats, AT Rich Sequence, Human genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954d8b0ede7955556a250f1846623c59Test
https://doi.org/10.1101/gr.5651507Test

المؤلفون: Pavel Stankiewicz, Lisa G. Shaffer, Lisa Edelmann, Raj K. Pandita, James R. Lupski, Bernice E. Morrow, Elizabeth Spiteri

المصدر: Genome Research. 11:208-217

مصطلحات موضوعية: Letter, Pan troglodytes, Sequence analysis, Chromosomes, Human, Pair 22, Molecular Sequence Data, Sequence alignment, Locus (genetics), Biology, Evolution, Molecular, Mice, Genes, Duplicate, Gene Duplication, DiGeorge syndrome, Gene duplication, DiGeorge Syndrome, medicine, Genetics, Animals, Humans, Amino Acid Sequence, Gene, Genetics (clinical), Extracellular Matrix Proteins, Gorilla gorilla, Base Sequence, Chromosome Mapping, Nuclear Proteins, Proteins, Sequence Analysis, DNA, Evolutionary pressure, Low copy repeats, medicine.disease, Macaca mulatta, Cebidae, Protein Biosynthesis, Sequence Alignment, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18760e1e3f5dfd94595eef33631142d6Test
https://doi.org/10.1101/gr.143101Test

المؤلفون: Raj K. Pandita, C. Carlson, H. Sirotkin, Raju Kucherlapati, Kwame Anyane-Yeboa, Bernice E. Morrow, Sherman M. Weissman, Sankhavaram R. Patanjali, J McKie, Rosalie Goldberg, Robert J. Shprintzen, R Wadey, Peter J. Scambler, D. Warburton

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetic Markers, Heart Defects, Congenital, Genotype, Chromosomes, Human, Pair 22, Chromosome Breakpoints, Chromosome Disorders, Biology, Hybrid Cells, Craniofacial Abnormalities, Gene mapping, DiGeorge syndrome, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), RNA, Messenger, Genetics (clinical), Sequence Tagged Sites, Chromosome Aberrations, Expressed sequence tag, Haplotype, Chromosome Mapping, Low copy repeats, Syndrome, medicine.disease, Cleft Palate, Phenotype, Chromosome Deletion, Haploinsufficiency, Chromosome 22, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480be35d54010a3c7d0c0652bfcb3cbaTest

المؤلفون: Sankhavaram R. Patanjali, Raju Kucherlapati, H. Sirotkin, Anne Puech, Sherman M. Weissman, Arthur I. Skoultchi, Bernice E. Morrow, Ruchira Das Gupta, Bruno Saint-Jore

المصدر: Genomics. 42:245-251

مصطلحات موضوعية: Adult, Heart Defects, Congenital, DNA, Complementary, Chromosomes, Human, Pair 22, Molecular Sequence Data, Locus (genetics), Hemizygosity, Biology, Homology (biology), Embryonic and Fetal Development, Mice, Gene mapping, DiGeorge syndrome, Complementary DNA, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Claudin-5, Cloning, Molecular, Gene, Sequence Deletion, Base Sequence, Sequence Homology, Amino Acid, Chromosome Mapping, Membrane Proteins, Syndrome, medicine.disease, Transmembrane protein, Cleft Palate, Face

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abb8a8e04a64564586204580fb006a67Test
https://doi.org/10.1006/geno.1997.4734Test

المؤلفون: H O'Donnell, Bernice E. Morrow, Carole McKeown, Peter J. Scambler, Clive Gould

المصدر: The American Journal of Human Genetics. 60:1544-1547

مصطلحات موضوعية: Genetic Markers, Male, Cloning, Genetics, Letter, Chromosomes, Human, Pair 22, Chromosome Mapping, Karyotype, Biology, medicine.disease, Pedigree, Genetic marker, Karyotyping, DiGeorge syndrome, DiGeorge Syndrome, medicine, Humans, Genetics(clinical), Female, Chromosome Deletion, 22q11 deletion, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8289d1c85bad783ccc879bad375383b8Test
https://doi.org/10.1086/523992Test

المؤلفون: Linda A. Cannizzaro, H. Sirotkin, Ruchira DasGupta, Sherman M. Weissman, Bernice E. Morrow, Rosalie Goldberg, Guangping Shi, Robert J. Shprintzen, Sankhavaram R. Patanjali, Raju Kucherlapati

المصدر: Human Molecular Genetics. 5:617-624

مصطلحات موضوعية: Heart Defects, Congenital, DNA, Complementary, Chromosomes, Human, Pair 22, Molecular Sequence Data, Locus (genetics), Polymerase Chain Reaction, Clathrin, Gene mapping, Complementary DNA, DiGeorge syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Base Sequence, biology, Muscles, Chromosome Mapping, Gene Expression Regulation, Developmental, General Medicine, Blotting, Northern, medicine.disease, Phenotype, Blotting, Southern, Clathrin Heavy Chains, Face, biology.protein, Autoradiography, Pharynx, Chromosome 22

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c444b0eba280c7abb5d31a8f1a37c6dcTest
https://doi.org/10.1093/hmg/5.5.617Test