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المؤلفون: Bin Zhou, Alexander Diacou, Bernice E. Morrow, Silvia E. Racedo, Lijie Shi, Taeju Park
المصدر: Hum Mol Genet
مصطلحات موضوعية: Heart Defects, Congenital, animal structures, Vascular smooth muscle, Integrin, Notch signaling pathway, Cell morphology, Muscle, Smooth, Vascular, Adapter molecule crk, Mice, Genetics, medicine, Animals, Molecular Biology, Genetics (clinical), biology, Neural crest, Cell Differentiation, General Medicine, Proto-Oncogene Proteins c-crk, Cell biology, CRKL, medicine.anatomical_structure, Neural Crest, embryonic structures, biology.protein, Original Article, Pharyngeal arch, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3872ecdcc77ea29e695ebc4cf52e14Test
https://pubmed.ncbi.nlm.nih.gov/34686881Test -
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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 -
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المؤلفون: Donna M. McDonald-McGinn, Erica Hasten, Terrence B. Crowley, Elaine H. Zackai, Silvia E. Racedo, Bernice E. Morrow, Beverly S. Emanuel
المصدر: Human molecular genetics. 27(11)
مصطلحات موضوعية: 0301 basic medicine, TBX1, Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Chromosomes, Human, Pair 22, Persistent truncus arteriosus, Embryonic Development, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Internal medicine, DiGeorge syndrome, Gene duplication, Chromosome Duplication, Genetics, medicine, DiGeorge Syndrome, Animals, Humans, Abnormalities, Multiple, Homologous Recombination, Molecular Biology, Genetics (clinical), Aorta, Mutation, Gene Expression Regulation, Developmental, Heart, General Medicine, Articles, medicine.disease, Phenotype, Truncus Arteriosus, Persistent, Disease Models, Animal, Meiosis, 030104 developmental biology, Endocrinology, embryonic structures, 22q11.2 duplication syndrome, T-Box Domain Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dd33d3240e5ca71689124cd7657052Test
https://pubmed.ncbi.nlm.nih.gov/29509905Test -
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المؤلفون: Raquel Castellanos, Deyou Zheng, Joris Vermeesch, Matthew S. Hestand, Maria Delio, Bernice E. Morrow, Nousin Haque, Xingyi Guo
المصدر: Human molecular genetics. 25(17)
مصطلحات موضوعية: 0301 basic medicine, Chromosomes, Artificial, Bacterial, Recombination hotspot, Sequence analysis, Pseudogene, Chromosomes, Human, Pair 22, Chromosome Breakpoints, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetics, DiGeorge Syndrome, ATP Binding Cassette Transporter, Subfamily G, Member 2, Humans, Molecular Biology, Genetics (clinical), Sequence Deletion, Whole genome sequencing, Breakpoint, breakpoint cluster region, High-Throughput Nucleotide Sequencing, General Medicine, Low copy repeats, Sequence Analysis, DNA, Articles, Neoplasm Proteins, 030104 developmental biology, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd73fca1406f56a38ea5f3dbdd3e260Test
https://pubmed.ncbi.nlm.nih.gov/27436579Test -
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المؤلفون: Takeshi Hiramoto, Pekka T. Männistö, Raju Kucherlapati, Gina Kang, Bernice E. Morrow, Mark A. Geyer, Kathryn M. Harper, Go Suzuki, Noboru Hiroi, Mahalah R. Buell, Birgit Funke, Moonsook Lee, Soh Agatsuma
المصدر: Human Molecular Genetics. 18:3914-3925
مصطلحات موضوعية: Male, medicine.medical_specialty, Chromosomes, Human, Pair 22, Transgene, Thioredoxin Reductase 2, Hippocampus, Mice, Transgenic, Striatum, Biology, Catechol O-Methyltransferase, Mice, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Internal medicine, Genetics, medicine, Animals, Humans, Learning, Autistic Disorder, Prefrontal cortex, Molecular Biology, Genetics (clinical), Prepulse inhibition, 030304 developmental biology, Armadillo Domain Proteins, 0303 health sciences, Catechol-O-methyl transferase, Working memory, Gene Expression Regulation, Developmental, Articles, General Medicine, Spontaneous alternation, Phosphoproteins, Disease Models, Animal, Memory, Short-Term, Endocrinology, Female, Cell Adhesion Molecules, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abedbae8fa5aeab04d31eb21d760eceeTest
https://doi.org/10.1093/hmg/ddp334Test -
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المؤلفون: Pawel Stankiewicz, Qing Cao, James M. Sikela, Bernice E. Morrow, Matthew D. Brenton, Svetlana A. Yatsenko, Pieter J. de Jong, James R. Lupski, Janet A. Hopkins, Melanie Babcock
المصدر: Human Molecular Genetics. 16:2560-2571
مصطلحات موضوعية: Chromosomes, Human, Pair 22, Pseudogene, Gene Dosage, Biology, Genome, Gene dosage, Evolution, Molecular, Alu Elements, Gene Duplication, Gene duplication, DiGeorge Syndrome, Genetics, Animals, Humans, Molecular Biology, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Segmental duplication, Gorilla gorilla, Hominidae, Exons, General Medicine, Low copy repeats, Telomere, Human genome, Pseudogenes, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90284e33b4c5b256274debfabecbf67Test
https://doi.org/10.1093/hmg/ddm197Test -
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المؤلفون: Joe C. Adams, Jun Liao, Jonathan A. Epstein, Sonja Nowotschin, Vimla S. Aggarwal, Jelena S. Arnold, M. Christian Brown, Bernice E. Morrow, Lazaros K. Kochilas
المصدر: Human Molecular Genetics. 13:1577-1585
مصطلحات موضوعية: TBX1, medicine.medical_specialty, Cardiovascular Abnormalities, Gene Dosage, Thyroid Gland, Thymus Gland, Biology, Gene dosage, Craniofacial Abnormalities, Parathyroid Glands, Mice, stomatognathic system, Internal medicine, DiGeorge syndrome, DiGeorge Syndrome, Genetics, medicine, Animals, Expressivity (genetics), Craniofacial, Molecular Biology, Genetics (clinical), Ear, General Medicine, Aplasia, medicine.disease, Null allele, Hypoplasia, Disease Models, Animal, Endocrinology, T-Box Domain Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2420d89b0f93280e973dfe831f4e31Test
https://doi.org/10.1093/hmg/ddh176Test -
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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 -
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المؤلفون: Mikael Nilsson, Louise Andersson, Henrik Fagman, Jun Liao, Bernice E. Morrow, Jessica Westerlund
المصدر: Human molecular genetics. 16(3)
مصطلحات موضوعية: TBX1, endocrine system, Mesoderm, medicine.medical_specialty, endocrine system diseases, Thyroid Gland, Biology, Choristoma, Thyroid dysgenesis, Models, Biological, Mice, 22q11 Deletion Syndrome, stomatognathic system, Internal medicine, DiGeorge syndrome, Pharyngeal apparatus, Genetics, medicine, DiGeorge Syndrome, Animals, Computer Simulation, Molecular Biology, Genetics (clinical), Mice, Knockout, Thyroid, General Medicine, Organ Size, medicine.disease, Congenital hypothyroidism, Mice, Inbred C57BL, medicine.anatomical_structure, Endocrinology, embryonic structures, Thyroid Dysgenesis, T-Box Domain Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e8190d7283a19969b423b2442970ccTest
https://pubmed.ncbi.nlm.nih.gov/17164259Test -
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المؤلفون: Marina Campione, Mark Lewandoski, Vimla S. Aggarwal, Alexei Bondarev, Alan L. Shanske, Thomas Schimmang, Bernice E. Morrow, Joseph Locker, Jun Liao
المصدر: Human molecular genetics. 15(21)
مصطلحات موضوعية: TBX1, Heart Defects, Congenital, animal structures, Fibroblast Growth Factor 8, Mutant, Fibroblast Growth Factor 3, Thyroid Gland, Thymus Gland, Biology, Fibroblast growth factor, Craniofacial Abnormalities, Mice, stomatognathic system, Pharyngeal apparatus, Genetics, DiGeorge Syndrome, Animals, Humans, Molecular Biology, Genetics (clinical), In Situ Hybridization, Regulation of gene expression, FGF10, Gene Expression Regulation, Developmental, Epistasis, Genetic, General Medicine, Phenotype, Null allele, Fibroblast Growth Factors, stomatognathic diseases, embryonic structures, Pharynx, T-Box Domain Proteins, Fibroblast Growth Factor 10
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842f9ede138375c326481d7453907833Test
https://pubmed.ncbi.nlm.nih.gov/17000704Test