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1. Full Text ARX spectrum disorders: making inroads into the molecular pathology
by Shoubridge, Cheryl and Fullston, Tod and Gécz, Jozef
Human mutation, ISSN 1059-7794, 08/2010, Volume 31, Issue 8, pp. 889 - 900
Aristaless‐related homeobox gene | seizures | homeodomain transcription factor | expanded polyalanine | intellectual disability | ARX | Aristaless-related homeobox gene | Homeodomain transcription factor | Intellectual disability | Expanded polyalanine | Seizures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, X-Linked | Genetic Association Studies | Islets of Langerhans - metabolism | Humans | Intellectual Disability - pathology | Transcription Factors - genetics | Mutation - genetics | Homeodomain Proteins - genetics | Intellectual Disability - genetics | Index Medicus
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2. Full Text Refining analyses of copy number variation identifies specific genes associated with developmental delay
by Coe, B.P and Witherspoon, K and Rosenfeld, J.A and Bon, B.W.M. van and Silfhout, A.T. van and Bosco, P and Friend, K.L and Baker, C and Buono, S and Vissers, L.E.L.M and Schuurs-Hoeijmakers, J.H.M and Hoischen, A and Pfundt, R and Krumm, N and Carvill, G.L and Li, D and Amaral, D and Brown, N and Lockhart, P.J and Scheffer, I.E and Alberti, A and Shaw, M and Pettinato, R and Tervo, R and Leeuw, N. de and Reijnders, M.R and Torchia, B.S and Peeters, H and Thompson, E and O'Roak, B.J and Fichera, M and Hehir-Kwa, J.Y and Shendure, J and Mefford, H.C and Haan, E and Gécz, J and Vries, L.B.A. de and Romano, C and Eichler, E.E
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Haploinsufficiency - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Developmental Disabilities - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Carrier Proteins - genetics | Comparative Genomic Hybridization | Base Sequence | Female | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Child | Psychological aspects | Copy number variations | Genes | Genetic aspects | Health aspects | Identification and classification | Developmental delay | Studies | Medical research | Autism | Integrated approach | Genomics | Mental health | Mutation | Morbidity | Index Medicus
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3. Full Text A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
by Brickner, Joshua R and Soll, Jennifer M and Lombardi, Patrick M and Vågbø, Cathrine B and Mudge, Miranda C and Oyeniran, Clement and Rabe, Renana and Jackson, Jessica and Sullender, Meagan E and Blazosky, Elyse and Byrum, Andrea K and Zhao, Yu and Corbett, Mark A and Gécz, Jozef and Field, Michael and Vindigni, Alessandro and Slupphaug, Geir and Wolberger, Cynthia and Mosammaparast, Nima
Nature (London), ISSN 0028-0836, 11/2017, Volume 551, Issue 7680, pp. 389 - 393
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Trichothiodystrophy Syndromes - genetics | Alkylating Agents - pharmacology | Humans | Ubiquitin - metabolism | Endoplasmic Reticulum - metabolism | RNA Polymerase II - metabolism | Trichothiodystrophy Syndromes - pathology | Alkylation | DNA Adducts - metabolism | DNA-Binding Proteins - metabolism | Multiprotein Complexes - metabolism | RNA Splicing | Ubiquitination | Genes, X-Linked | AlkB Homolog 3, Alpha-Ketoglutarate-Dependent Dioxygenase - metabolism | Trichothiodystrophy Syndromes - metabolism | Polyubiquitin - metabolism | Amino Acid Sequence | Signal Transduction | DNA Adducts - chemistry | Models, Molecular | Nuclear Proteins - metabolism | DNA-Binding Proteins - genetics | Nuclear Proteins - chemistry | AlkB Enzymes - metabolism | DNA Helicases - metabolism | DNA Repair | Kinetics | Ubiquitin | Genetic research | Genetic aspects | Cellular signal transduction | Research | DNA repair | DNA damage | Trichothiodystrophy | Cytotoxicity | Nucleotides | DNA-directed RNA polymerase | Proteins | Coupling (molecular) | Signal transduction | Pathways | Rodents | Cell cycle | Lesions | Ubiquitin-protein ligase | Deoxyribonucleic acid--DNA | Elongation | Biodegradation | Enzymes | Splicing | Dealkylation | Alkylating agents | Crosslinking | Ribonucleic acid--RNA | Signaling | Chemotherapy | Damage detection | Mutation | RNA polymerase II | Cancer | Index Medicus
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4. Full Text Glutamate receptors and learning and memory
by Gécz, Jozef
Nature genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 925 - 926
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Learning - physiology | Translocation, Genetic | Phenotype | Receptors, Glutamate - genetics | Synapses - physiology | Humans | Epilepsy - genetics | Intellectual Disability - genetics | Memory - physiology | Receptors, N-Methyl-D-Aspartate - genetics | Physiological aspects | Genetic aspects | Research | AMPA receptors | Glutamate | Mental illness | Autism | Rodents | Genetics | Mutation | Behavior | Mental retardation | Brain diseases
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5. Full Text Cerebral palsy: causes, pathways, and the role of genetic variants
by MacLennan, Alastair H., MD, FRANZCOG and Thompson, Suzanna C., MBBS, FRACP and Gecz, Jozef, PhD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2015, Volume 213, Issue 6, pp. 779 - 788
Obstetrics and Gynecology | genetic variants | DNA variants | epidemiological risk factors | causes | cerebral palsy | genomics | heterogeneity | whole exome sequencing | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy, Multiple | Premature Birth | Humans | Pregnancy Complications | Risk Factors | Fetal Growth Retardation | Placenta Diseases | Obstetric Labor Complications | False Positive Reactions | Hypoxia-Ischemia, Brain - complications | Genetic Variation | Pregnancy | Congenital Abnormalities | Defensive Medicine | Cardiotocography | Cerebral Palsy - etiology | Dystocia | Sex Factors | Female | Mutation | Nuchal Cord | Infant, Newborn | Infection - complications | Metabolism, Inborn Errors - complications | Cerebral palsy | Genetic disorders | Growth | Comorbidity | Mortality | Genomics | Birth defects | Gene expression | Costs (Law) | Genetic research | Fetus | Nucleotide sequencing | DNA sequencing | Index Medicus | Abridged Index Medicus
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6. Full Text Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
by Gecz, Jozef and Thomas, Paul Q
Current opinion in genetics & development, ISSN 0959-437X, 12/2020, Volume 65, pp. 169 - 175
Index Medicus
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7. Full Text PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
by Heron, Sarah E and Grinton, Bronwyn E and Kivity, Sara and Afawi, Zaid and Zuberi, Sameer M and Hughes, James N and Pridmore, Clair and Hodgson, Bree L and Iona, Xenia and Sadleir, Lynette G and Pelekanos, James and Herlenius, Eric and Goldberg-Stern, Hadassa and Bassan, Haim and Haan, Eric and Korczyn, Amos D and Gardner, Alison E and Corbett, Mark A and Gécz, Jozef and Thomas, Paul Q and Mulley, John C and Berkovic, Samuel F and Scheffer, Ingrid E and Dibbens, Leanne M
American journal of human genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 152 - 160
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Medical genetics | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Seizures - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Athetosis - genetics | Infant | Male | Nerve Tissue Proteins - genetics | Animals | Epilepsy, Benign Neonatal - genetics | Pedigree | Base Sequence | Age of Onset | Brain - pathology | Mice | Mutation | Chorea - genetics | Chromosomes, Human, Pair 16 - genetics | Gene mutations | Epilepsy in children | Causes of | Genetic aspects | Research | Convulsions | Health aspects | Movement disorders | Membrane proteins | Babies | Proteins | Genetic research | Convulsions & seizures | Epilepsy | Index Medicus | Basal ganglia | Protein kinase C | paroxysmal kinesigenic | Benign | Cortex | Heredity | pleiotropy | Choreoathetosis | Children | Age | Seizures | Report | Medicin och hälsovetenskap
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8. Full Text Cerebral palsy with autism and ADHD: time to pay attention
by Gecz, Jozef and Berry, Jesia G
Developmental medicine and child neurology, ISSN 0012-1622, 12/2020
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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9. Full Text La FAM fatale: USP9X in development and disease
by Murtaza, Mariyam and Jolly, Lachlan A and Gecz, Jozef and Wood, Stephen A
Cellular and molecular life sciences : CMLS, ISSN 1420-682X, 6/2015, Volume 72, Issue 11, pp. 2075 - 2089
Life Sciences | Biochemistry, general | Ubiquitin | Embryo | Life Sciences, general | Fat facets | Stem cells | Biomedicine general | Cell Biology | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Ubiquitin-Specific Proteases - genetics | Humans | Protein Processing, Post-Translational - genetics | Embryonic Development - genetics | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Neurodegenerative Diseases - genetics | Ubiquitin Thiolesterase - genetics | Protein Transport - genetics | Autoimmune Diseases - genetics | Neurogenesis - genetics | Cell Polarity - genetics | Animals | Neoplasms - genetics | Ubiquitin Thiolesterase - metabolism | Ubiquitin-Specific Proteases - metabolism | Ubiquitination - genetics | Drosophila - genetics | Drug discovery | Proteases | Alzheimer's disease | Analysis | Epilepsy | Index Medicus | Review
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