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1دورية أكاديمية
المؤلفون: Bum Jun Kim, Hitisha P. Zaveri, Valerie K. Jordan, Andres Hernandez-Garcia, Daron J. Jacob, Diana L. Zamora, Wei Yu, Robert J. Schwartz, Daryl A. Scott
المصدر: Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
مصطلحات موضوعية: RERE, GATA4, Atrioventricular canal, Atrioventricular cushion, Endothelial-to-mesenchymal transition, Ventricular septal defects, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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المؤلفون: Andrés Hernández-García, Katherine E Pendleton, Sangbae Kim, Yumei Li, Bum J Kim, Hitisha P Zaveri, Valerie K Jordan, Aliska M Berry, M Cecilia Ljungberg, Rui Chen, Rainer B Lanz, Daryl A Scott
المصدر: Human Molecular Genetics.
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::368181fa8752a662f186540cd0a9a609
https://doi.org/10.1093/hmg/ddad050 -
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المؤلفون: Valerie K. Jordan, Tiana M. Scott, Daryl A. Scott, Bum Jun Kim, Peter Kundert, Jenny Carmichael, Hitisha P. Zaveri
المصدر: Human molecular genetics. 30(7)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Cleft Lip, Embryonic Development, Chromosome Disorders, Mice, Transgenic, Nerve Tissue Proteins, Wnt1 Protein, Biology, Mesoderm, 03 medical and health sciences, 0302 clinical medicine, Cranial neural crest, Neurodevelopmental disorder, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Cell Proliferation, Mice, Knockout, 1p36 deletion syndrome, Embryogenesis, Chromosome, Gene Expression Regulation, Developmental, Embryo, General Medicine, medicine.disease, Phenotype, Cleft Palate, Mice, Inbred C57BL, Repressor Proteins, Disease Models, Animal, 030104 developmental biology, Chromosomes, Human, Pair 1, Neural Crest, PAX7, Chromosome Deletion, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082ec83093a17eef82a81252952bc3f2
https://pubmed.ncbi.nlm.nih.gov/33772547 -
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المؤلفون: Yumei Li, M. Cecilia Ljungberg, Sangbae Kim, Rui Chen, Bum Jun Kim, Rainer B. Lanz, Andres Hernandez-Garcia, Hitisha P. Zaveri, Valerie K. Jordan, Daryl A. Scott
مصطلحات موضوعية: Paracrine signalling, Mesenchymal stem cell, WNT4, Embryo, In situ hybridization, Biology, Haploinsufficiency, Embryonic stem cell, Endocardium, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d39b77a2a84ce345b2990ccb9fe76b77
https://doi.org/10.1101/2020.12.04.412288 -
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المؤلفون: Mary E. Dickinson, Shalini N. Jhangiani, Caraciolo J. Fernandes, Amber J. Lashua, Andres Hernandez-Garcia, Daryl A. Scott, Richard A. Gibbs, Kevin P. Lally, Chih-Wei Hsu, Bum Jun Kim, Tyler F. Beck, Eric Boerwinkle, Alexander H. Li, Peter Kundert, Tomasz Gambin, Donna M. Muzny, Ingrid S. Paine, Jaya Punetha, Molly Starkovich, James R. Lupski, Valerie K. Jordan, Xin Sun, Jennifer E. Posey
المصدر: Human Molecular Genetics. 27:2064-2075
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Diaphragmatic breathing, 030105 genetics & heredity, Biology, medicine.disease_cause, Epithelium, Mice, 03 medical and health sciences, Pregnancy, Genetics, medicine, Animals, Humans, Allele, Child, Molecular Biology, Fraser syndrome, Genetics (clinical), Mice, Knockout, Extracellular Matrix Proteins, Mutation, Infant, Newborn, Genetic disorder, Infant, Congenital diaphragmatic hernia, Receptors, Interleukin, Articles, General Medicine, medicine.disease, Diaphragm (structural system), 030104 developmental biology, Child, Preschool, FRAS1, Female, Hernias, Diaphragmatic, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747bfd5546df3336cd8ba15e087642b5
https://doi.org/10.1093/hmg/ddy110 -
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المؤلفون: John A. Bernat, Elliott H. Sherr, Weimin Bi, Tugce B. Balci, Ronald J. Wapner, Jessica L. Giordano, Jill A. Rosenfeld, Donna M. Martin, Brieana Fregeau, Valerie K. Jordan, Annika M. Dries, Amanda Moccia, Colette DeFilippo, Jennefer N. Kohler, Yaping Yang, Vincent Cantagrel, Andrea M. Lewis, Willa Thorson, Xiaoyan Ge, Anshika Srivastava, Stephanie L. Bielas, Jonathan A. Bernstein, Melissa T. Carter, Marlène Rio, Nathalie Boddaert, John Pappas, Melissa D. Svoboda, Fernando Scaglia, Daryl A. Scott
المصدر: Paediatrics Publications
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Biology, 1p36 deletion syndrome, Article, genotype–phenotype correlations, CHD7, Young Adult, 03 medical and health sciences, CHARGE syndrome, Fatal Outcome, Neurodevelopmental disorder, Gene duplication, RERE, Genetics, medicine, Humans, Gene, Genetic Association Studies, Genetics (clinical), Point mutation, Infant, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, Carrier Proteins, NEDBEH, Haploinsufficiency
وصف الملف: application/pdf
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المؤلفون: Robert J. Schwartz, Daron J. Jacob, Wei Yu, Andres Hernandez-Garcia, Daryl A. Scott, Bum Jun Kim, Valerie K. Jordan, Diana L. Zamora, Hitisha P. Zaveri
المصدر: Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
Disease Models & Mechanismsمصطلحات موضوعية: Heart Septal Defects, Ventricular, 0301 basic medicine, Epithelial-Mesenchymal Transition, Atrioventricular canal, Neuroscience (miscellaneous), Medicine (miscellaneous), Endothelial-to-mesenchymal transition, lcsh:Medicine, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, General Biochemistry, Genetics and Molecular Biology, Mesoderm, Mice, 03 medical and health sciences, GATA4, Immunology and Microbiology (miscellaneous), Mesenchymal cell proliferation, RERE, lcsh:Pathology, Animals, Transcription factor, Alleles, Endocardium, Cell Proliferation, Mice, Knockout, Mesenchymal stem cell, lcsh:R, Gene Expression Regulation, Developmental, Embryo, Mammalian, GATA4 Transcription Factor, Cell biology, Mice, Inbred C57BL, Repressor Proteins, 030104 developmental biology, Hypocellularity, Nuclear receptor, embryonic structures, Atrioventricular cushion, Ventricular septal defects, NIH 3T3 Cells, cardiovascular system, Endocardial Cushions, Carrier Proteins, Research Article, lcsh:RB1-214
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المؤلفون: Daryl A. Scott, Valerie K. Jordan, Jill A. Rosenfeld, Seema R. Lalani
المصدر: American Journal of Medical Genetics Part A. 167:2145-2149
مصطلحات موضوعية: medicine.medical_specialty, GATA4, Biology, medicine.disease, Hypotonia, Endocrinology, Internal medicine, Speech delay, Gene duplication, cardiovascular system, Genetics, medicine, Cardiology, Copy-number variation, medicine.symptom, HEY2, Genetics (clinical), Tetralogy of Fallot, Gliogenesis
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المؤلفون: Andres Hernandez-Garcia, Brendan Lee, Eric Boerwinkle, Tyler F. Beck, Shalini N. Jhangiani, Willie Reardon, Wojciech Wiszniewski, Daryl A. Scott, James R. Lupski, Reem Abo-Zahrah, Philippe M. Campeau, Richard A. Gibbs, Valerie K. Jordan, Tomasz Gambin, Donna M. Muzny, Alexander H. Li
المصدر: American Journal of Medical Genetics Part A. 167:831-836
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Congenital diaphragmatic hernia, Biology, medicine.disease, Frameshift mutation, Etiology, medicine, Ectopia lentis, Fibrillin, Exome, Genetics (clinical), Exome sequencing
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المؤلفون: James R. Lupski, Seema R. Lalani, Alejandro D. Iglesias, Amy M. Breman, Lee-Jun C. Wong, Jinglan Zhang, Amyn K. Jiwani, Valerie K. Jordan, Bum Jun Kim, Andres Hernandez-Garcia, Fan Xia, Daryl A. Scott, Bibhuti B. Das, Sandra Darilek, Molly Starkovich, Jill A. Rosenfeld, Yaping Yang, Mahshid S. Azamian
المصدر: Journal of medical genetics. 54(1)
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Developmental Disabilities, Heart Ventricles, Cardiomyopathy, 030105 genetics & heredity, Biology, Corpus callosum, 03 medical and health sciences, Nuclear Matrix-Associated Proteins, Intellectual disability, Genetics, medicine, Humans, Exome, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Infant, RNA-Binding Proteins, medicine.disease, Penetrance, Transplantation, DNA-Binding Proteins, 030104 developmental biology, Child, Preschool, Octamer Transcription Factors