المؤلفون: Lisa A. Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Alyssa Hahn, Greg Bonde, Abby Long, Jennifer Standley, Anastasia Tyryshkina, George Wehby, Nanette R. Lee, Sandra Daack-Hirsch, Karen Mohlke, Santhosh Girirajan, Benjamin W. Darbro, Robert A. Cornell, Douglas W. Houston, Jeffrey C. Murray, J. Robert Manak

المصدر: Am J Hum Genet

مصطلحات موضوعية: Genetics, Genetics (clinical), Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bba6616746d610ade3107edac5c664dTest
https://europepmc.org/articles/PMC9892779Test/

المؤلفون: Ann Marie McCarthy, Bridget Zimmerman, Jeffrey C. Murray, Kirsten Hanrahan, Debra L. Schutte, Anne L. Ersig, Elizabeth J. Leslie, Jennifer Standley

المصدر: Biological Research For Nursing. 21:157-165

مصطلحات موضوعية: Adult, Male, Parents, Hypothalamo-Hypophyseal System, Genotype, Hydrocortisone, Exploratory research, Pituitary-Adrenal System, Physiology, Polymorphism, Single Nucleotide, Fight-or-flight response, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Child, Alleles, Research and Theory, business.industry, Brain-Derived Neurotrophic Factor, Genetic variants, Genetic Variation, Articles, 030227 psychiatry, Phenotype, Haplotypes, Child, Preschool, Female, business, Stress, Psychological, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f009416a9cdf99dbf246f91f753386Test
https://doi.org/10.1177/1099800419826315Test

المؤلفون: Alissa M. Hulstrand, Jeffrey C. Murray, J. Robert Manak, Robert A. Cornell, Lisa A. Lansdon, Douglas W. Houston, Abby Long, Rachel B. Brouillette, M. Adela Mansilla, Aline Petrin, Benjamin W. Darbro, Jennifer Standley

المصدر: Genetics. 208:283-296

مصطلحات موضوعية: 0301 basic medicine, Genetics, Candidate gene, Synexpression, Locus (genetics), 030105 genetics & heredity, Biology, 03 medical and health sciences, 030104 developmental biology, Copy-number variation, Craniofacial, Haploinsufficiency, Gene, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8713d29ba88b897f6f94c1fd7e6969f0Test
https://doi.org/10.1534/genetics.117.300535Test

المؤلفون: H. V. Bernabe, Lisa A. Lansdon, Jeffrey C. Murray, Nichole Nidey, Michael J. Schnieders, Jennifer Standley

المصدر: Journal of Dental Research. 96:1339-1345

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Ectrodactyly, Genotype, Cleft Lip, Protein domain, Mutation, Missense, 030105 genetics & heredity, Biology, Craniofacial Abnormalities, Fingers, 03 medical and health sciences, Exon, Holoprosencephaly, Intellectual Disability, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, Agenesis of the corpus callosum, General Dentistry, Genetic Association Studies, Genetics, Fibroblast growth factor receptor 1, Genetic Variation, Research Reports, medicine.disease, Phenotype, Cleft Palate, stomatognathic diseases, 030104 developmental biology, Hand Deformities, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8157649bdced63bf521b962a0d5f9c92Test
https://doi.org/10.1177/0022034517726496Test

المؤلفون: Parada-Sanchez Mt, Jennifer Standley, Liza L Cox, Jeffrey C. Murray, Undurty Ss, Timothy C. Cox, Chu Ey

المصدر: Journal of Dental Research. 96:1330-1338

مصطلحات موضوعية: 0301 basic medicine, Cleft Lip, Tissue Adhesions, Chick Embryo, Bioinformatics, medicine.disease_cause, Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Animals, Humans, Immunoprecipitation, Medicine, Phosphorylation, General Dentistry, Mutation, Cleft lip palate, business.industry, NM23 Nucleoside Diphosphate Kinases, Genetic Variation, Research Reports, Cleft Palate, 030104 developmental biology, 030220 oncology & carcinogenesis, Interferon Regulatory Factors, IRF6, business, Transcription Factors, Interferon regulatory factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff10e999c2a7a862f14d02cec0342b3Test
https://doi.org/10.1177/0022034517723615Test

المؤلفون: Ann Marie McCarthy, Jennifer Standley, Charmaine Kleiber, Jeffrey C. Murray, Debra L. Schutte, Anne L. Ersig, Bridget Zimmerman, Kirsten Hanrahan, Elizabeth J. Leslie

المصدر: Biological Research For Nursing. 19:339-349

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Candidate gene, Pain, Anxiety, 03 medical and health sciences, 0302 clinical medicine, Catheterization, Peripheral, medicine, Humans, Child, Psychiatry, Research and Theory, Depression, Brain-Derived Neurotrophic Factor, Genetic variants, Genetic Variation, Articles, Procedural Pain, Distress, Phenotype, 030104 developmental biology, Variation (linguistics), Female, medicine.symptom, Psychology, Child, Hospitalized, 030217 neurology & neurosurgery, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa375748bf6242b8ee1c562649b8f3f3Test
https://doi.org/10.1177/1099800417692878Test

المؤلفون: Mekonen Eshete, Bryan C. Bjork, Irfan Saadi, Jennifer Standley, Nathan R. Wilson, Brian C. Schutte, Nagato Natsume, Jeffrey C. Murray, Dusica Babovic-Vuksanovic, Sarah A. Kroc, Tamara Busch, Akihiro Mori, Everett G. Hall, Laura Schultz-Rogers, Eric W. Klee, Jeremy P. Goering, Wasiu Lanre Adeyemo, Diana S. Acevedo, Masaaki Ito, Satoshi Suzuki, Hideto Imura, Sraavya S. Undurty-Akella, Eno Abasi Augustine-Akpan, Luke W. Wenger, Youssef A. Kousa, Azeez Butali, Lenore Pitstick, Shahnawaz Paroya

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, Calponin, Mutant, Compound heterozygosity, Adherens junction, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, Animals, Humans, Allele, Molecular Biology, Gene, Genetics (clinical), Mice, Knockout, biology, Heterozygote advantage, General Medicine, Phosphoproteins, Molecular biology, Cleft Palate, Mice, Inbred C57BL, 030104 developmental biology, Interferon Regulatory Factors, Mutation, biology.protein, IRF6, Female, General Article, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0444ea6016318afa546a9ba969377a2Test
https://pubmed.ncbi.nlm.nih.gov/31943082Test

المؤلفون: Andrew C. Lidral, Deborah A. Nickerson, Ryan D. Anderson, Chika T. Richter, Robert A. Cornell, Lina M. Moreno Uribe, Huiqing Zhou, Deepti Anand, Jessica X. Chong, Hans van Bokhoven, Elizabeth E. Blue, Edwin P. Kirk, Mei Deng, Joshua D. Smith, Nichole Nidey, Jason C. McCoy, Jennifer Standley, Huan Liu, Katy N. Krahn, Jeffrey C. Murray, Salil A. Lachke, Hanka Venselaar, Timothy C. Cox, Michael J. Bamshad, Tony Roscioli, Ying Zhu, Michael F. Buckley, Ian A. Glass, Liza L Cox, Thomas B. Thompson

المصدر: Hum Mutat
Human Mutation, 40, 10, pp. 1813-1825
Human Mutation, 40, 1813-1825

مصطلحات موضوعية: Models, Molecular, Follistatin, Protein Conformation, Cleft Lip, Biology, Article, Cell Line, 03 medical and health sciences, symbols.namesake, 130 000 Cognitive Neurology & Memory, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Gene, Furin, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, Computational Biology, Genomics, Phenotype, Pedigree, Growth Differentiation Factors, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Amino Acid Substitution, GDF11, Knockout mouse, Bone Morphogenetic Proteins, Mutation, biology.protein, Mendelian inheritance, symbols, Molecular Developmental Biology, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a989194cf576016e2505f9cf67f020Test
https://pubmed.ncbi.nlm.nih.gov/31215115Test

المؤلفون: Bruce Bedell, Deborah A. Nickerson, Michael O. Dorschner, Ian A. Glass, Joshua D. Smith, Edwin P. Kirk, Lina M. Moreno Uribe, Liza L Cox, Chika T. Richter, Eric Haan, Michael F. Buckley, Katy N. Krahn, Salil A. Lachke, Deepti Anand, Jennifer Standley, Hanka Venselaar, Huiqing Zhou, Tony Roscioli, Andrew C. Lidral, Yueqin Yang, Luz Consuelo Valencia-Ramirez, Timothy C. Cox, Jessica X. Chong, Jonathan A. Cooper, Ying Zhu, Anne V. Hing, Nichole Nidey, Michael J. Bamshad, Elizabeth Blue, Russ P. Carstens, Mei Deng, Hans van Bokhoven, Jeffrey C. Murray

المصدر: American Journal of Human Genetics, 102, 1143-1157
American Journal of Human Genetics, 102, 6, pp. 1143-1157

مصطلحات موضوعية: 0301 basic medicine, Male, Delta Catenin, Cleft Lip, Biology, Article, Epithelium, CDH1, 03 medical and health sciences, symbols.namesake, Mice, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Genetics, Animals, Humans, Biotinylation, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Genetics (clinical), Exome sequencing, Alleles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cadherin, CTNND1, Palate, Infant, Newborn, Infant, Catenins, Syndrome, Cadherins, Penetrance, Pedigree, Cleft Palate, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], 030104 developmental biology, Catenin, Mutation, Mendelian inheritance, symbols, biology.protein, Female, Molecular Developmental Biology, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f41fd0d53a156a679fe2856923443caTest
https://europepmc.org/articles/PMC5992119Test/

المؤلفون: Elizabeth J. Leslie, Fernando A. Poletta, Frederic W.-D. Deleyiannis, Eleanor Feingold, John R. Shaffer, Natsume Nagato, L. Leigh Field, Aline Petrin, Carmencita D. Padilla, Satoshi Suzuki, Terri H. Beaty, Jenna C. Carlson, Azeez Butali, George L. Wehby, Seth M. Weinberg, Carmen J. Buxó, Eduardo E. Castilla, Jeffrey C. Murray, Lina M. Moreno Uribe, Ariuntuul Garidkhuu, Alexandre R. Vieira, Mary L. Marazita, Jennifer Standley, Iêda M. Orioli, Jacqueline T. Hecht, Kaare Christensen

المصدر: Carlson, J C, Standley, J, Petrin, A, Shaffer, J R, Butali, A, Buxó, C J, Castilla, E, Christensen, K, Deleyiannis, F W-D, Hecht, J T, Field, L L, Garidkhuu, A, Moreno Uribe, L M, Nagato, N, Orioli, I M, Padilla, C, Poletta, F, Suzuki, S, Vieira, A R, Wehby, G L, Weinberg, S M, Beaty, T H, Feingold, E, Murray, J C, Marazita, M L & Leslie, E J 2017, ' Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes ', Genetic Epidemiology, vol. 41, no. 8, pp. 887-897 . https://doi.org/10.1002/gepi.22090Test

مصطلحات موضوعية: 0301 basic medicine, Male, GENE-GENE INTERACTION, CIENCIAS MÉDICAS Y DE LA SALUD, Epidemiology, Cleft Lip, Inmunología, Single-nucleotide polymorphism, Locus (genetics), Biology, Genetic analysis, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Risk Factors, Journal Article, Humans, Allele, Genetics (clinical), Alleles, Genetics, Genetic heterogeneity, Racial Groups, Brain, Forkhead Transcription Factors, COMPLEX TRAIT, OROFACIAL CLEFT, Phenotype, Genetic architecture, Cleft Palate, Medicina Básica, 030104 developmental biology, Genetic Loci, GENETIC MODIFIER, Female, Chromosomes, Human, Pair 16, FOXE1, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c37af9e178aa1524ee5835abeadfefTest
https://europepmc.org/articles/PMC5728176Test/