المؤلفون: Ophir D. Klein, Najla Alrejaye, Snehlata Oberoi, Alice F. Goodwin, Haotian Cao

المصدر: Orthodontics & craniofacial research, vol 20 Suppl 1, iss Suppl 1

مصطلحات موضوعية: 0301 basic medicine, Port-Wine Stain, 030105 genetics & heredity, Bioinformatics, LEOPARD Syndrome, Craniofacial Abnormalities, Congenital, Costello syndrome, Ectodermal Dysplasia, Ras/MAPK pathway, 2.1 Biological and endogenous factors, Aetiology, Heart Defects, Pediatric, Cafe-au-Lait Spots, Costello Syndrome, Noonan Syndrome, craniofacial development, Oral Surgery, Noonan Syndrome with Multiple Lentigines, Heart Defects, Congenital, Neurofibromatosis 1, MAP Kinase Signaling System, Orthodontics, RASopathy, Article, Arteriovenous Malformations, 03 medical and health sciences, Rare Diseases, Genetics, medicine, Humans, Dental/Oral and Craniofacial Disease, Craniofacial, Neurofibromatosis, Germ-Line Mutation, Legius syndrome, business.industry, Facies, MAPK pathway, malocclusion, medicine.disease, dental anomalies, Capillaries, Failure to Thrive, 030104 developmental biology, Otorhinolaryngology, Dentistry, ras Proteins, Congenital Structural Anomalies, Noonan syndrome, Surgery, business, Ras

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4efb0c8e486e5a8e44eeb6abed073a3fTest
https://doi.org/10.1111/ocr.12144Test

المؤلفون: Lauren A. Weiss, Katherine A. Rauen, Erika Yeh, Gemma E. Rooney, Jeroen P. Roose, Ophir D. Klein, Erik M. Ullian, Claude M. Schofield, Philippe Depeille, Amnon Sharir, Alice F. Goodwin

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 36, iss 1

مصطلحات موضوعية: 0301 basic medicine, Male, Autism, Cellular differentiation, Regenerative Medicine, Medical and Health Sciences, Costello syndrome, Neural Stem Cells, Stem Cell Research - Nonembryonic - Human, 2.1 Biological and endogenous factors, Aetiology, Induced pluripotent stem cell, Child, Cells, Cultured, Pediatric, Cultured, Stem Cell Research - Induced Pluripotent Stem Cell - Human, General Neuroscience, Costello Syndrome, Cell Differentiation, Articles, Middle Aged, Neural stem cell, Up-Regulation, iPS cells, Mental Health, Child, Preschool, Neurological, Stem Cell Research - Nonembryonic - Non-Human, Female, Stem cell, Adult, Neurite, Adolescent, Cells, Intellectual and Developmental Disabilities (IDD), Induced Pluripotent Stem Cells, Biology, 03 medical and health sciences, Directed differentiation, stem cells, medicine, Humans, cortical development, Preschool, Neurology & Neurosurgery, Stem Cell Research - Induced Pluripotent Stem Cell, Psychology and Cognitive Sciences, Neurosciences, Infant, Stem Cell Research, medicine.disease, Brain Disorders, Developmental disorder, 030104 developmental biology, ras Proteins, Neuroscience, Ras

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c33826688773ee032bb9b125ac8a7e4Test
https://europepmc.org/articles/PMC4701956Test/

المؤلفون: Cyril Charles, Ophir D. Klein, Maya Landan, Snehlata Oberoi, Katherine A. Rauen, Cecilia Fairley, Alice F. Goodwin, Jessica C. Massie

المصدر: American journal of medical genetics. Part A, vol 164A, iss 6

مصطلحات موضوعية: Male, Ectodermal dysplasia, Pathology, Craniofacial abnormality, gingival hyperplasia, Oral and gastrointestinal, Craniofacial Abnormalities, Congenital, Phosphatidylinositol 3-Kinases, Costello syndrome, Ectodermal Dysplasia, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Heart Defects, Pediatric, Dental Enamel Hypoplasia, Costello Syndrome, enamel, Anatomy, craniofacial development, Female, medicine.symptom, Abnormalities, Mitogen-Activated Protein Kinases, CS, Multiple, signal transduction, Heart Defects, Congenital, Adult, medicine.medical_specialty, Pediatric Research Initiative, Adolescent, MAP Kinase Signaling System, Clinical Sciences, occlusion, Biology, RASopathy, Article, Proto-Oncogene Proteins p21(ras), Young Adult, Rare Diseases, stomatognathic system, medicine, Genetics, Humans, Abnormalities, Multiple, HRAS, Craniofacial, Dental/Oral and Craniofacial Disease, Tooth Abnormalities, Macrocephaly, Facies, tooth development, MAPK pathway, malocclusion, medicine.disease, Failure to Thrive, stomatognathic diseases, Gingival Hyperplasia, Mutation, receptor tyrosine kinase, Congenital Structural Anomalies, Tooth, Malocclusion, Ras

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fd303490107e32d7aa99c0270e9802Test
https://escholarship.org/uc/item/1qs5q956Test

المؤلفون: Ophir D. Klein, Cyril Charles, Katherine A. Rauen, Xu Zheng, Amnon Sharir, Andrew H. Jheon, William E. Tidyman, Thomas G.H. Diekwisch, Alice F. Goodwin, James A. Fagin, Martin McMahon, Bernhard Ganss

المصدر: Human molecular genetics, vol 23, iss 3

مصطلحات موضوعية: MAPK/ERK pathway, Male, Medical and Health Sciences, Cohort Studies, Mice, Phosphatidylinositol 3-Kinases, Anti-apoptotic Ras signalling cascade, Ameloblasts, 2.1 Biological and endogenous factors, Scanning, Aetiology, Enzyme Inhibitors, Child, Genetics (clinical), Phosphoinositide-3 Kinase Inhibitors, Pediatric, Genetics & Heredity, Microscopy, Costello Syndrome, Cell Polarity, General Medicine, Articles, Biological Sciences, Cell biology, Mutant Strains, Child, Preschool, Female, Ameloblast, Signal Transduction, Adult, Adolescent, 1.1 Normal biological development and functioning, MAP Kinase Kinase Kinase 1, Biology, Electron, Proto-Oncogene Proteins p21(ras), Young Adult, Rare Diseases, stomatognathic system, Underpinning research, Genetics, Animals, Humans, HRAS, Dental/Oral and Craniofacial Disease, Progenitor cell, Preschool, Dental Enamel, Molecular Biology, PI3K/AKT/mTOR pathway, Animal, Infant, Stem Cell Research, Mice, Mutant Strains, Disease Models, Animal, Ras Signaling Pathway, Case-Control Studies, Disease Models, Immunology, Microscopy, Electron, Scanning

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4270d19f5798493b2d515b8ec68baadTest
https://pubmed.ncbi.nlm.nih.gov/24057668Test