المؤلفون: Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: Ann Neurol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Sodium Channels, Article, 03 medical and health sciences, Epilepsy, SCN3A, 0302 clinical medicine, Neurodevelopmental disorder, Fetus, Channelopathy, Intellectual disability, medicine, NAV1.3 Voltage-Gated Sodium Channel, Missense mutation, Humans, Child, Sodium channel, Brain, Genetic Variation, Infant, medicine.disease, Electrophysiology, 030104 developmental biology, HEK293 Cells, Neurology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9Test
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdfTest

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977Test
https://urn.nsk.hr/urn:nbn:hr:105:093095Test

المؤلفون: Stephen P. Robertson, Renzo Guerrini, Silvia Cappello, Timothy R. Morgan, Micha Drukker, Andrew E. Fry, Adam C. O’Neill, Richard J. Leventer, Samuel F. Berkovic, Christina Kyrousi, David Markie, Ingrid E. Scheffer, Johannes Klaus, Zandra A. Jenkins, Edwin P. Kirk, Magdalena Götz, Daniela T. Pilz

المصدر: CELL REPORTS
Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)

مصطلحات موضوعية: Male, Primates, 0301 basic medicine, Gene isoform, Cell type, RHOA, Neurogenesis, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Species Specificity, Cell Movement, medicine, Animals, Guanine Nucleotide Exchange Factors, Humans, Protein Isoforms, Exome, lcsh:QH301-705.5, Alleles, Neurons, Regulation of gene expression, Genome, Neocortex, Base Sequence, Infant, Newborn, Brain, Phenotype, Cell biology, Mice, Inbred C57BL, Organoids, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, lcsh:Biology (General), Cerebral cortex, biology.protein, rhoA GTP-Binding Protein, Neuroglia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d806bd94a392d4e363785c4a2b0e70Test
https://orca.cardiff.ac.uk/id/eprint/117584/1/O?Neill_PLEKHG6_2018.pdfTest

المؤلفون: Karen W. Gripp, Jean-Baptiste Rivière, Alain Verloes, Jean-Pierre Fryns, Michael Marble, Joris A. Veltman, Grazia M.S. Mancini, Christopher T. Sullivan, Susan L. Christian, Marlies Kempers, Joan F. Atkin, Victoria Mok Siu, Valérie Drouin-Garraud, M. Elizabeth Ross, Daniela T. Pilz, Conny M. A. van Ravenswaaij-Arts, Andrew E. Fry, Omar A. Abdul-Rahman, Bregje W.M. van Bon, Jill A. Rosenfeld, Nicolas Chassaing, Brian J. O'Roak, Jay Shendure, Christian Gilissen, Tony Roscioli, S.S. Kholmanskikh, Alexander Hoischen, Han G. Brunner, Bert B.A. de Vries, William B. Dobyns, Małgorzata J.M. Nowaczyk, Sabine Gijsen, Tjitske Kleefstra

المساهمون: Public Health, Clinical Genetics, Ethical, Legal, Social Issues in Genetics (ELSI)

المصدر: Nature Genetics, 44(4), 440-U255. Nature Publishing Group
Nature Genetics, 44, 4, pp. 440-4, S1-2
Nature Genetics; Vol 44
Nature Genetics, 44, 440-4, S1-2
Nature genetics
Paediatrics Publications

مصطلحات موضوعية: Male, Proband, PTOSIS, Developmental Disabilities, medicine.disease_cause, 0302 clinical medicine, Missense mutation, Child, Exome sequencing, Sequence Deletion, Genetics, 0303 health sciences, Mutation, Brain, Syndrome, Phenotype, Coloboma, GROWTH, Female, Adult, Adolescent, DNA Copy Number Variations, Molecular Sequence Data, Mutation, Missense, DNA-SEQUENCING DATA, NOONAN-SYNDROME, Biology, Nervous System Malformations, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, MALFORMATIONS, Amino Acid Sequence, Gene, Actin, 030304 developmental biology, ACTG1, Base Sequence, IDENTIFICATION, GAMMA-ACTIN, Sequence Analysis, DNA, Actins, IRIS COLOBOMA, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], BETA-ACTIN, PAX9 Transcription Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sequence Alignment, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: Electronic; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0138dd6e14fb3e0c15f66dbee60a92Test
https://hdl.handle.net/2066/110786Test

المؤلفون: Gökhan Uyanik, Udo Koehler, Richard H Scott, Nicolas Chassaing, Birgit Zirn, Neophytos Apeshiotis, Marisol Heise, Bettina Chilian, Ute Grasshoff, Gudrun A. Rappold, Bertrand Isidor, Ute Moog, Tatjana Bierhals, Gregor Schlüter, Christine Coubes, Hilde Van Esch, Stefanie Balg, Kerstin Kutsche, Barbara Oehl-Jaschkowitz, Hartmut Engels, William B. Dobyns, Joanna Jarvis, Eva Wohlleber, Günther Rettenberger, Isabella Rau, Soma Das, Els Ortibus, Moonef Shoukier, Thomas Martin, Prab Prabhakar, Fanny Kortüm, Daniela T. Pilz

المصدر: Journal of Medical Genetics. 48:741-751

مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Pathology, Microcephaly, Genotype, Molecular Sequence Data, Gene Dosage, Neuroimaging, Postnatal microcephaly, Biology, Real-Time Polymerase Chain Reaction, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Intellectual Disability, Molecular genetics, Genetics, medicine, Humans, CASK, Child, Cerebellar hypoplasia, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, Optic nerve hypoplasia, Base Sequence, Brain, Genetic Variation, Infant, medicine.disease, Null allele, Molecular biology, Hypotonia, Phenotype, Child, Preschool, Karyotyping, Female, medicine.symptom, Guanylate Kinases, Biomarkers, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca4f3577137764290d9ace245620b872Test
https://doi.org/10.1136/jmedgenet-2011-100218Test

المؤلفون: Daniela T. Pilz, Tracy A Briggs, William B. Dobyns, F. Ebinger, John H. Livingston, W. Squier, Stefano D'Arrigo, Christopher Rowland-Hill, Nick Stoodley, Nicole I. Wolf, Yanick J. Crow, Gillian I. Rice, Inga Harting, D. Crooks

المساهمون: Pediatric surgery

المصدر: Briggs, T A, Wolf, N I, D'Arrigo, S, Ebinger, F, Harting, I, Dobyns, W B, Livingston, J H, Rice, G I, Crooks, D, Rowland-Hill, C A, Squier, W, Stoodley, N, Pilz, D T & Crow, Y J 2008, ' Band-like intracranial calcification with simplified gyration and polymicrogyria : A distinct "pseudo-TORCH" phenotype ', American Journal of Medical Genetics, Part A, vol. 146, no. 24, pp. 3173-3180 . https://doi.org/10.1002/ajmg.a.32614Test
American Journal of Medical Genetics, Part A, 146(24), 3173-3180. Wiley-Liss Inc.

مصطلحات موضوعية: Male, Microcephaly, Congenital cytomegalovirus infection, Context (language use), Biology, Autosomal recessive trait, Fatal Outcome, Genetics, medicine, Polymicrogyria, Humans, Abnormalities, Multiple, Sibling, Child, Genetics (clinical), Brain Diseases, Brain, Calcinosis, Infant, medicine.disease, Phenotype, Magnetic Resonance Imaging, Malformations of Cortical Development, Postmortem Changes, Female, Tomography, X-Ray Computed, Calcification

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653238bc15d2fd1f0742a56353e231eaTest
http://www.scopus.com/inward/record.url?scp=57149119935&partnerID=8YFLogxKTest

المؤلفون: B Minns, David FitzPatrick, Daniela T. Pilz, W T Keng

المصدر: Developmental Medicine & Child Neurology. 45:704-708

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, Encephalopathy, Gene Expression, Biology, MELAS syndrome, DNA, Mitochondrial, Developmental Neuroscience, MELAS Syndrome, Polymicrogyria, medicine, Humans, Point Mutation, Child, Myopathy, Transition (genetics), Point mutation, Brain, Calcinosis, medicine.disease, Neuroepithelial cell, Diffusion Magnetic Resonance Imaging, Phenotype, Lactic acidosis, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edecd6287962b7114c552725d2895907Test
https://doi.org/10.1111/j.1469-8749.2003.tb00874.xTest

المؤلفون: Heather L. Ward, David H. Ledbetter, Kristin Petras, William B. Dobyns, James J. Dowling, Ann M. Weiss, Soma Das, June Chung, Carlos Cardoso, Jessica A. Roseberry, Richard J. Leventer, Daniela T. Pilz, Christa Lese Martin

المصدر: Human Mutation. 19:4-15

مصطلحات موضوعية: Genetics, Miller–Dieker syndrome, Brain, Lissencephaly, Syndrome, Biology, medicine.disease, Molecular biology, Phenotype, Disease Models, Animal, Exon, PAFAH1B1, WD40 repeat, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Mutation, medicine, Animals, Humans, Missense mutation, Microtubule-Associated Proteins, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4ed122f9ae05881a6627882933c6aeTest
https://doi.org/10.1002/humu.10028Test

المؤلفون: Naomichi Matsumoto, David H. Ledbetter, Daniela T. Pilz

المصدر: Genomics. 56:179-183

مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, Transcription, Genetic, Molecular Sequence Data, Gene Expression, Lissencephaly, Protein Serine-Threonine Kinases, Biology, Exon, Doublecortin-Like Kinases, Gene mapping, Gene expression, Genetics, medicine, Humans, Tissue Distribution, Northern blot, Gene, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 13, medicine.diagnostic_test, Neuropeptides, Intracellular Signaling Peptides and Proteins, Intron, Brain, Chromosome Mapping, Gene Expression Regulation, Developmental, Exons, Phosphoproteins, medicine.disease, Introns, Genes, Female, Microtubule-Associated Proteins, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718ca2fabb575ccc0552960a29a41d47Test
https://doi.org/10.1006/geno.1998.5673Test

المؤلفون: J A Fantes, Naomichi Matsumoto, K Kittikamron, David H. Ledbetter, Daniela T. Pilz

المصدر: Journal of Medical Genetics. 35:829-832

مصطلحات موضوعية: X Chromosome, Lissencephaly, Translocation Breakpoint, Chromosomal translocation, Biology, Translocation, Genetic, Contig Mapping, Gene mapping, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Sequence Tagged Sites, Contig, Breakpoint, Brain, food and beverages, Sequence Analysis, DNA, Chromosomes, Bacterial, medicine.disease, Electrophoresis, Gel, Pulsed-Field, Chromosomes, Human, Pair 2, Female, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa5bb3c13f4a13efe5389bb1055eda5Test
https://doi.org/10.1136/jmg.35.10.829Test