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

Relation: http://dmm.biologists.org/content/11/9/dmm031534; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/a9ce8e98bdaa403b92be87c363a87bf4

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

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

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

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84dfee63634362cb465883265b436673
https://doi.org/10.1002/humu.23400

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 & Mechanisms

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ee4bb93a8bda02b71662db4441d81f
http://dmm.biologists.org/content/11/9/dmm031534

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c8200fb98899860c6943b712e557b330
https://doi.org/10.1002/ajmg.a.37086

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e666e49c66889213e50d9ac615f82368
https://doi.org/10.1002/ajmg.a.36960

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b526eca86b34892d8cdb9bf5f2b6ea
https://pubmed.ncbi.nlm.nih.gov/27550220