المؤلفون: Stuart M. Pitson, Mark A. Corbett, Stephen P. Robertson, Rebekah de Nys, Heidi E. Kirsch, Deepak Gill, Melissa R. Pitman, Samuel F. Berkovic, Benjamin J. Halliday, Lachlan A. Jolly, Slavé Petrovski, Jozef Gecz, Kavitha Kothur, Kristy L. Kolc, Brigid M. Regan, Alison Gardner, Duyen H. Pham, Ingrid E. Scheffer, Sulekha Rajagopalan, Raman Kumar, Renèe B. Schulz, Sarah E. Heron

المساهمون: Pham, Duyen H, Pitman, Melissa R, Kumar, Raman, Jolly, Lachlan A, Pitson, Stuart M, Gecz, Jozef

المصدر: Human Mutation. 42:1030-1041

مصطلحات موضوعية: medicine.medical_specialty, PCDH19, In silico, Mutation, Missense, Protocadherin, Disease, Computational biology, Biology, functional test, variant assessment, 03 medical and health sciences, Genetics, medicine, Humans, Missense mutation, Relevance (information retrieval), Genetics (clinical), 030304 developmental biology, 0303 health sciences, Epilepsy, Molecular pathology, 030305 genetics & heredity, Sequence Analysis, DNA, Cadherins, Protocadherins, VUS, epilepsy, Medical genetics, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98642cac02b62c426ddada968741bda8Test
https://doi.org/10.1002/humu.24237Test

المؤلفون: Marina Trivisano, Nicola Specchio, Christel Depienne, Lynette G. Sadleir, Raman Kumar, Kristy L. Kolc, Jozef Gecz, Ingrid E. Scheffer, Duyen H. Pham, Rachel M. Roberts, Rikke S. Møller, Carla Marini

المصدر: Translational Psychiatry, Vol 10, Iss 1, Pp 1-9 (2020)
Translational Psychiatry
Kolc, K L, Sadleir, L G, Depienne, C, Marini, C, Scheffer, I E, Møller, R S, Trivisano, M, Specchio, N, Pham, D, Kumar, R, Roberts, R & Gecz, J 2020, ' A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy ', Translational Psychiatry, vol. 10, 127 . https://doi.org/10.1038/s41398-020-0803-0Test

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Genetic counseling, Medizin, Article, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, 0302 clinical medicine, Patient-Centered Care, Human behaviour, Genotype, Cluster Analysis, Humans, Medicine, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, business.industry, Strengths and Difficulties Questionnaire, Cadherins, medicine.disease, Protocadherins, Psychiatry and Mental health, Behavior Rating Inventory of Executive Function, Phenotype, 030104 developmental biology, Autism spectrum disorder, Cohort, Female, Psychiatric disorders, business, 030217 neurology & neurosurgery, Executive dysfunction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf56aae8636a55426366131835291359Test
http://link.springer.com/article/10.1038/s41398-020-0803-0Test

المؤلفون: Ingrid E. Scheffer, Duyen H. Pham, Kristy L. Kolc, Rachel M. Roberts, Jozef Gecz, Atma M. Ivancevic, Lynette G. Sadleir

المصدر: Molecular Psychiatry

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Comorbidity, medicine.disease_cause, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, 0302 clinical medicine, Germline mutation, Seizures, Intellectual Disability, Intellectual disability, medicine, Humans, Association (psychology), Psychiatry, Molecular Biology, Genetic Association Studies, X-linked recessive inheritance, Mutation, business.industry, Infant, Newborn, Infant, Cadherins, medicine.disease, Protocadherins, 3. Good health, Psychiatry and Mental health, 030104 developmental biology, Meta-analysis, Female, Expert Review, business, Spasms, Infantile, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a41e326370e8ffb3670660a7a9d9aeTest
https://doi.org/10.1038/s41380-018-0066-9Test

المؤلفون: Duyen H. Pham, Paul A.B. Moretti, Gregory J. Goodall, Stuart M. Pitson

المصدر: BioTechniques, Vol 45, Iss 2, Pp 155-162 (2008)

مصطلحات موضوعية: Biology (General), QH301-705.5

العلاقة: https://doaj.org/toc/0736-6205Test; https://doaj.org/toc/1940-9818Test; https://doaj.org/article/0d74b497a2bc495eae1d9e1877f6d735Test

الإتاحة: https://doi.org/10.2144/000112896Test
https://doaj.org/article/0d74b497a2bc495eae1d9e1877f6d735Test

المؤلفون: Mark A. Corbett, Paul Q. Thomas, Jozef Gecz, Duyen H. Pham, Chuan C. Tan, Kristy L. Kolc, Archa H. Fox, Claire C. Homan, Dale McAninch, Raman Kumar

المساهمون: Pham, Duyen H, Tan, Chuan C, Homan, Claire C, Kolc, Kristy L, Corbett, Mark A, McAninch, Dale, Fox, Archa H, Thomas, Paul Q, Kumar, Raman, Gecz, Jozef

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Gene Expression, Estrogen receptor, cell adhesion molecules, 0302 clinical medicine, Nuclear Matrix-Associated Proteins, genes, Genetics (clinical), Regulation of gene expression, RNA-Binding Proteins, estrogen receptors, Articles, gene expression regulation, General Medicine, Cadherins, Pedigree, 3. Good health, Cell biology, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, comorbidity, chimerism, Octamer Transcription Factors, neurosteroids, behavioral problems, Protocadherin, Breast Neoplasms, Biology, x chromosomes, 03 medical and health sciences, Cell Line, Tumor, Intellectual Disability, genetic inheritance, Genetics, Humans, cancer, Molecular Biology, Estrogen receptor beta, cognitive impairment, hemizygosity, Epilepsy, hormones, Estrogen Receptor alpha, Paraspeckle, heterozygote, Protocadherins, Androgen receptor, HEK293 Cells, mosaicism, nuclear hormone receptor, 030104 developmental biology, Nuclear receptor, Mutation, gene expression, epilepsy, autistic disorder, mutation, metabolism, Estrogen receptor alpha, breast cancer cells, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e1eba5c559243dbd2c6ad9db9bea88Test
https://doi.org/10.1093/hmg/ddx094Test

المؤلفون: Melissa R. Pitman, Claudine S. Bonder, Michael S. Samuel, Heidi A. Neubauer, Darren J. Creek, Paul A.B. Moretti, Briony L. Gliddon, Stuart M. Pitson, Jason A. Powell, Huasheng Chan, Tamara M. Leclercq, Julia R. Zebol, Duyen H. Pham, Amanda L. Peterson

المساهمون: Neubauer, Heidi A, Pham, Duyen H, Zebol, Julia R, Moretti, Paul AB, Peterson, Amanda L, Leclercq, Tamara M, Chan, Huasheng, Powell, Jason A, Pitman, Melissa R, Samuel, Michael S, Bonder, Claudine S, Creek, Darren J, Gliddon, Briony L, Pitson, Stuart M

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Ceramide, Carcinogenesis, Cell Survival, sphingosine kinase 2, proliferation, Apoptosis, Biology, Ceramides, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Sphingosine, oncogenesis, medicine, Humans, Neoplastic transformation, Cell Proliferation, Cell Nucleus, Kinase, Cell growth, Cell Membrane, Sphingosine Kinase 2, 3. Good health, Gene Expression Regulation, Neoplastic, Phosphotransferases (Alcohol Group Acceptor), Protein Transport, neoplastic transformation, tumorigenesis, HEK293 Cells, 030104 developmental biology, Oncology, chemistry, 030220 oncology & carcinogenesis, Cancer research, Lysophospholipids, Signal transduction, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7a985d761337c790b118b5e2e1a8b1Test
https://hdl.handle.net/11541.2/123313Test

المؤلفون: Jozef Gecz, C Tan, Claire C. Homan, Duyen H. Pham, Lachlan A. Jolly

المساهمون: Pham, Duyen, Tan, Chuan, Homan, Claire, Jolly, Lachlan, Gecz, Jozef

مصطلحات موضوعية: Mutation, PCDH19, Protocadherin, Biology, medicine.disease, medicine.disease_cause, neurodevelopmental disorder, adhesion molecule, Epilepsy, Neurodevelopmental disorder, Schizophrenia, mental disorders, Intellectual disability, medicine, Autism, Bipolar disorder, mutation, protocadherin, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc98d1fc9cd050d0f96892811bd7b21Test
https://doi.org/10.1016/b978-0-12-800109-7.00014-5Test

المؤلفون: Raman Kumar, Jozef Gecz, Michael Field, Marie Shaw, Kathryn Friend, Marie Mangelsdorf, Lynne Hobson, Duyen H. Pham, Jackie Boyle, Anna Hackett, Mark A. Corbett, Gillian Turner, Thuong Ha

المساهمون: Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Adult, Male, RNA Folding, Five prime untranslated region, Short Report, Biology, 03 medical and health sciences, Genetic linkage, Cell Line, Tumor, Gene duplication, Genetics, Humans, RNA, Messenger, Nuclear protein, Gene, Genetics (clinical), X chromosome, Aged, Aged, 80 and over, Chromosomes, Human, X, Nuclear Proteins, Middle Aged, Phenotype, Pedigree, Mutagenesis, Insertional, 030104 developmental biology, HEK293 Cells, intellectual disability, Mental Retardation, X-Linked, Female, mutation, 5' Untranslated Regions, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc09b3965bc94cae52582b32b3e08927Test
https://hdl.handle.net/11541.2/135772Test

المؤلفون: Nicola Specchio, Evelyn Douglas, Enzo Ranieri, Lynette G. Sadleir, Duyen H. Pham, Eric Haan, Jozef Gecz, Kim Hynes, Ingrid E. Scheffer, Chloe Shard, C Tan, Grant Buchanan, Raman Kumar, Cheryl Shoubridge, Samuel F. Berkovic, Renzo Guerrini, Christel Depienne, Damian Leach, Mark A. Corbett, Rikke S. Møller, Carla Marini, Jacinta M McMahon, Lam Son Nguyen, Paul Q. Thomas

المساهمون: Tan, Chuan, Shard, Chloe, Ranieri, Enzo, Hynes, Kim, Gecz, Jozef

المصدر: Tan, C, Shard, C, Ranieri, E, Hynes, K, Pham, D H, Leach, D, Buchanan, G, Corbett, M, Shoubridge, C, Kumar, R, Douglas, E, Nguyen, L S, Mcmahon, J, Sadleir, L, Specchio, N, Marini, C, Guerrini, R, Moller, R S, Depienne, C, Haan, E, Thomas, P Q, Berkovic, S F, Scheffer, I E & Gecz, J 2015, ' Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency ', Human Molecular Genetics, vol. 24, no. 18, pp. 5250-5259 . https://doi.org/10.1093/hmg/ddv245Test

مصطلحات موضوعية: Ganaxolone, Pregnanolone, Epilepsy, chemistry.chemical_compound, PCDH19-FE, Cluster Analysis, Gene Regulatory Networks, Age of Onset, Child, Genetics (clinical), allopregnanolone, General Medicine, Middle Aged, Cadherins, Phenotype, female, Child, Preschool, Hydroxyprostaglandin Dehydrogenases, Female, Signal Transduction, medicine.drug, Adult, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, Neuroactive steroid, Adolescent, Protocadherin, protocadherin 19, Biology, Young Adult, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Sexual differentiation, Gene Expression Profiling, Allopregnanolone, Aldo-Keto Reductase Family 1 Member C3, Infant, Newborn, Infant, Reproducibility of Results, Fibroblasts, medicine.disease, Protocadherins, Endocrinology, Gene Expression Regulation, chemistry, allopregnanolone deficiency, Mutation, Epilepsy syndromes, epilepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e908647186fc5238c8ba3035d80c00Test
https://portal.findresearcher.sdu.dk/da/publications/d137b64e-cd1a-445a-afb9-c07195691c1cTest

المؤلفون: Stuart M. Pitson, Jason A. Powell, Gregory J. Goodall, Duyen H. Pham, Rosalie Kenyon, Paul A.B. Moretti, Briony L. Gliddon, M Van der Hoek, Anna Tsykin

المساهمون: Pham, DH, Powell, JA, Gliddon, BL, Moretti, PAB, Tsykin, A, Van Der Hoek, M, Kenyon, R, Goodall, GJ, Pitson, SM

مصطلحات موضوعية: Cancer Research, Immunoblotting, Sphingosine kinase, Fluorescent Antibody Technique, Transferrin receptor, Biology, Real-Time Polymerase Chain Reaction, Transfection, Cell Line, Mice, Antigens, CD, Neoplasms, Receptors, Transferrin, Genetics, Animals, Humans, Neoplastic transformation, RNA, Small Interfering, Receptor, Molecular Biology, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Kinase, DNA microarray, transferrin receptor, Cell biology, Phosphotransferases (Alcohol Group Acceptor), neoplastic transformation, Cell Transformation, Neoplastic, Gene Expression Regulation, Biochemistry, Sphingosine kinase 1, expression profiling, sphingosine kinase, Gene Knockdown Techniques, biology.protein, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9951558219169a8b56ab9a51cc90582cTest
https://hdl.handle.net/1959.8/154686Test