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1. Full Text A case of severe neonatal hyperammonemia
by Peake, Roy W.A and Neilan, Edward G
Clinical Chemistry, ISSN 0009-9147, 08/2017, Volume 63, Issue 8, pp. 1420 - 1422
A urine specimen was collected for organic acid analysis by gas chromatography-mass spectrometry. The presence of OA by qualitative gas chromatography-mass... 
MEDICAL LABORATORY TECHNOLOGY | Ornithine Carbamoyltransferase Deficiency Disease - diagnosis | Infant | Male | Ornithine Carbamoyltransferase Deficiency Disease - blood | Hyperammonemia - blood | Humans | Case studies | Infants (Newborn) | Medical examination | Diagnosis | Hyperammonemia | Urine | Edema | Neonates | Ventilators | Spectroscopy | Hemodialysis | Metabolism | Chromatography | Gas chromatography | Dilution | Antibiotics | Scientific imaging | Qualitative analysis | Mass spectrometry
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2. Full Text Two Cockayne Syndrome patients with a novel splice site mutation – clinical and metabolic analyses
by Sanchez-Roman, Ines and Lautrup, Sofie and Aamann, Maria Diget and Neilan, Edward G and Østergaard, John R and Stevnsner, Tinna
Mechanisms of Ageing and Development, ISSN 0047-6374, 10/2018, Volume 175, pp. 7 - 16
Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging. Most of the cases are due... 
Metabolomics | Splice site mutation | Premature aging | CSB | ERCC6 | Cockayne Syndrome | SYNDROME GROUP-B | CSB PROTEIN | CELLS | OXIDATIVE STRESS | POLYMERASE-II TRANSCRIPTION | NUCLEOTIDE EXCISION-REPAIR | SIRT3 | CELL BIOLOGY | GERIATRICS & GERONTOLOGY | DNA | GENE ERCC6 | Genetic Predisposition to Disease | RNA Splice Sites - genetics | Cockayne Syndrome - metabolism | Cockayne Syndrome - complications | Humans | DNA Repair Enzymes - genetics | Child, Preschool | Poly-ADP-Ribose Binding Proteins - genetics | Infant | Male | Tomography, X-Ray Computed | Cockayne Syndrome - diagnosis | Metabolomics - methods | Magnetic Resonance Imaging | Phenotype | DNA Mutational Analysis | Cockayne Syndrome - genetics | Mutation | Energy Metabolism - genetics | DNA Helicases - genetics | Phosphates | RNA | Proline | Genetic aspects | Superoxide | Genetic transcription | Glycine | Saturated fatty acids
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3. Full Text A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
by Burton, Barbara K and Balwani, Manisha and Feillet, François and Barić, Ivo and Burrow, T. Andrew and Camarena Grande, Carmen and Coker, Mahmut and Consuelo-Sánchez, Alejandra and Deegan, Patrick and Di Rocco, Maja and Enns, Gregory M and Erbe, Richard and Ezgu, Fatih and Ficicioglu, Can and Furuya, Katryn N and Kane, John and Laukaitis, Christina and Mengel, Eugen and Neilan, Edward G and Nightingale, Scott and Peters, Heidi and Scarpa, Maurizio and Schwab, K. Otfried and Smolka, Vratislav and Valayannopoulos, Vassili and Wood, Marnie and Goodman, Zachary and Yang, Yijun and Eckert, Stephen and Rojas-Caro, Sandra and Quinn, Anthony G
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1010 - 1020
This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia,... 
WOLMANS DISEASE | FIBROSIS | MEDICINE, GENERAL & INTERNAL | LIPIDOSIS | THERAPY | FATTY LIVER-DISEASE | PHENOTYPE | ESTER STORAGE DISEASE | ADULT | TRANSPLANTATION | CHILDREN | Dyslipidemias - genetics | Sterol Esterase - pharmacology | Sterol Esterase - therapeutic use | Dyslipidemias - drug therapy | Liver - pathology | Double-Blind Method | Humans | Middle Aged | Child, Preschool | Male | Alanine Transaminase - blood | Sterol Esterase - adverse effects | Wolman Disease - drug therapy | Young Adult | Liver - drug effects | Biopsy | Wolman Disease - blood | Adolescent | Cholesterol, HDL - blood | Adult | Cholesterol, LDL - blood | Female | Aged | Child | Metabolism, Inborn errors of | Enzymes | Care and treatment | Usage | Children | Health aspects | Biotechnology | Alanine | Genetic disorders | Liver diseases | Body weight | Dyslipidemia | Lipids | Triglycerides | Pharmacology | Apolipoproteins | Lipase | Patients | Low density lipoprotein | Cholesterol | Cirrhosis | Acids | Alanine transaminase | Lipid metabolism | Drug therapy | Liver cirrhosis | Age | Life Sciences
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4. Full Text Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
by Zhang, Xue and Horibata, Katsuyoshi and Saijo, Masafumi and Ishigami, Chie and Ukai, Akiko and Kanno, Shin-Ichiro and Tahara, Hidetoshi and Neilan, Edward G and Honma, Masamitsu and Nohmi, Takehiko and Yasui, Akira and Tanaka, Kiyoji
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 593 - 597
UV-sensitive syndrome ((UVS)-S-S) is an autosomal recessive disorder characterized by photosensitivity and deficiency in transcription-coupled repair (TCR), a... 
RNA-POLYMERASE-II | CSA | TRANSLOCATION | XERODERMA-PIGMENTOSUM | NUCLEAR-MATRIX | GENETICS & HEREDITY | COCKAYNE-SYNDROME | DEGRADATION | SYNDROME CELLS | DAMAGE | SYNDROME-B-PROTEIN | DNA Helicases - chemistry | Transcription Factors - chemistry | Humans | Cells, Cultured | DNA Repair Enzymes - genetics | DNA Repair - radiation effects | Kidney - cytology | DNA Repair - genetics | RNA Polymerase II - metabolism | Transcription Factors - genetics | Mutation - genetics | Carrier Proteins - genetics | Poly-ADP-Ribose Binding Proteins | Exome - genetics | Kidney - metabolism | Ultraviolet Rays | Cockayne Syndrome - genetics | DNA Damage - genetics | Transcription, Genetic | Protein Stability - radiation effects | DNA Helicases - genetics | DNA Damage - radiation effects | DNA Repair Enzymes - chemistry | Proteins | RNA polymerase | Chromosomes | Genes | Cloning | Molecular weight
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5. Full Text Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
: PLCB1 Deletion Causes MMPEI
by Poduri, Annapurna and Chopra, Sameer S and Neilan, Edward G and Christina Elhosary, P and Kurian, Manju A and Meyer, Esther and Barry, Brenda J and Khwaja, Omar S and Salih, Mustafa A. M and Stödberg, Tommy and Scheffer, Ingrid E and Maher, Eamonn R and Sahin, Mustafa and Wu, Bai-Lin and Berry, Gerard T and Walsh, Christopher A and Picker, Jonathan and Kothare, Sanjeev V
Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. e146 - e150
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6. Full Text Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
by Poduri, Annapurna and Chopra, Sameer S and Neilan, Edward G and Christina Elhosary, P and Kurian, Manju A and Meyer, Esther and Barry, Brenda J and Khwaja, Omar S and Salih, Mustafa A. M and Stödberg, Tommy and Scheffer, Ingrid E and Maher, Eamonn R and Sahin, Mustafa and Wu, Bai‐Lin and Berry, Gerard T and Walsh, Christopher A and Picker, Jonathan and Kothare, Sanjeev V
Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. e146 - e150
Summary Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a... 
Genetics | Focal epilepsy | Migrating partial seizures in infancy | Phospholipase C beta 1 | PHOSPHOLIPASE-C ISOZYMES | DISORDER | CLINICAL NEUROLOGY | Homozygote | Pedigree | Gene Deletion | Humans | Infant | Male | Epilepsies, Partial - genetics | Phospholipase C beta - genetics | Medical colleges | Neurosciences | Orphans | Genes | Epilepsy | Genomics | Development and progression | Diseases | Anopheles | Analysis | Cytogenetics | Phospholipases | Seizures (Medicine) | Children | Health aspects | Breakpoints | Animal models | Exons | Chromosome deletion | Gene deletion | Promoters | Phospholipase C | Polymerase chain reaction | Molecular modelling | Etiology | Encephalopathy | chromosome 20 | genomics | Mutation | copy number | Seizures | phospholipase C beta 1 (PLCB1) | genetics | migrating partial seizures in infancy
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7. Full Text Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
by Kimonis, Virginia. E and Mehta, Sarju G and Fulchiero, Erin C and Thomasova, Dana and Pasquali, Marzia and Boycott, Kym and Neilan, Edward G and Kartashov, Alex and Forman, Mark S and Tucker, Stuart and Kimonis, Katerina and Mumm, Steven and Whyte, Michael P and Smith, Charles D and Watts, Giles D. J
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2008, Volume 146A, Issue 6, pp. 745 - 757
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder... 
Paget disease of bone | chromosome 9p13.3‐12 | frontotemporal dementia | autosomal dominant | hereditary inclusion body myopathy | limb‐girdle muscular dystrophy | VCP (valosin‐containing protein) | Autosomal dominant | Limb-girdle muscular dystrophy | VCP (valosin-containing protein) | Hereditary inclusion body myopathy | Frontotemporal dementia | Chromosome 9p13.3-12 | GENE-MUTATIONS | ALZHEIMER-DISEASE | DIAGNOSIS | VALOSIN-CONTAINING-PROTEIN | ATPASE | chromosome 9p13.3-12 | INCLUSION-BODY MYOSITIS | limb-girdle muscular dystrophy | P97 | PATHOGENESIS | PROTEASOME | GENETICS & HEREDITY | DISORDER | Inclusion Bodies - ultrastructure | Cross-Sectional Studies | Humans | Middle Aged | Valosin Containing Protein | Muscle, Skeletal - ultrastructure | Male | Dementia - genetics | Osteitis Deformans - genetics | Osteitis Deformans - complications | Dementia - complications | Pedigree | Cell Cycle Proteins - genetics | Muscular Diseases - complications | Adult | Family | Female | Adenosine Triphosphatases - genetics | Retrospective Studies | Muscle, Skeletal - pathology | Muscular Diseases - genetics
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8. Full Text Laminopathies, other progeroid disorders, and aging: Common pathogenic themes and possible treatments
by Neilan, Edward G
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2009, Volume 149A, Issue 4, pp. 563 - 566
HYPERGONADOTROPIC HYPOGONADISM | MUTATIONS | CARDIOMYOPATHY | GENETICS & HEREDITY | Cardiomyopathy, Dilated - genetics | Werner Syndrome - etiology | Humans | Mutation, Missense | Lipodystrophy - etiology | Syndrome | Primary Ovarian Insufficiency - therapy | Lipodystrophy - genetics | Aging - genetics | Models, Biological | Werner Syndrome - genetics | Lamin Type A - genetics | Primary Ovarian Insufficiency - genetics | Female | DNA Damage | Lipodystrophy - therapy | Cardiomyopathy, Dilated - therapy
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9. Full Text Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation
by Wessel, Ann E and Mogensen, Kris M and Rohr, Frances and Erick, Miriam and Neilan, Edward G and Chopra, Sameer and Levy, Harvey L and Gray, Kathryn J and Wilkins-Haug, Louise and Berry, Gerard T
Journal of Parenteral and Enteral Nutrition, ISSN 0148-6071, 9/2015, Volume 39, Issue 7, pp. 875 - 879
Maple syrup urine disease (MSUD) is an inherited disorder of metabolism of the branched-chain amino acids leucine, isoleucine, and valine. Complications of... 
MSUD | parenteral nutrition | lactation | maple syrup urine disease | pregnancy | SURGERY | MORTALITY | CARDIAC SURGICAL-PATIENTS | RISK-FACTORS | LENGTH-OF-STAY | NOSOCOMIAL INFECTIONS | PREALBUMIN | NUTRITION & DIETETICS | PROLONGED VENTILATION | PREDICTORS | BODY-MASS INDEX | Nutritional Requirements | Pregnancy | Lactation | Maple Syrup Urine Disease - therapy | Humans | Adult | Female | Treatment Outcome | Amino Acids, Branched-Chain - blood | Parenteral Nutrition | Energy Intake | Pregnancy Complications - therapy
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10. Full Text Gene trap insertional mutagenesis in mice: New vectors and germ Line mutations in two novel genes
by Neilan, Edward G and Barsh, Gregory S
Transgenic Research, ISSN 0962-8819, 12/1999, Volume 8, Issue 6, pp. 451 - 458
Insertional mutagenesis based on gene trap vectors that capture endogenous splice sites is a promising tool for functional genomics. Several groups have... 
Human Genetics | vectors | Biomedicine | embryonic stem cells | gene trap | electroporation | Plant Sciences | Animal Anatomy / Morphology / Histology | GenBank accession numbers: AF064781 | AF064782 | AF064783 | Electroporation | Gene trap | Vectors | Embryonic stem cells | SITE | VIRUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | INTEGRATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | EMBRYONIC STEM-CELLS | RETROVIRUS | SELECTION | Moloney murine leukemia virus - genetics | Mutagenesis, Insertional - methods | Gene Expression Regulation | Molecular Sequence Data | Male | Mice, Transgenic | Mice, Inbred Strains | Phenotype | RNA Splicing | Animals | Mice, Mutant Strains | Cloning, Molecular | Gene Products, env - genetics | beta-Galactosidase - metabolism | Germ-Line Mutation | Female | Mice | beta-Galactosidase - genetics | Genetic Vectors | Mutagenesis | Genes | Genomics
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11. Full Text Hyperammonemia as a presenting feature in two siblings with FBXL4 variants
by Morton, Sarah U and Neilan, Edward G and Peake, Roy W. A and Shi, Jiahai and Schmitz-Abe, Klaus and Towne, Meghan and Markianos, Kyriacos and Prabhu, Sanjay P and Agrawal, Pankaj B
JIMD Reports, ISSN 2192-8304, 2017, Volume 35, pp. 7 - 15
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay.... 
Aspartate | Mitochondrial encephalomyopathy | Anaplerosis | FBXL4 | Lactic acidosis | Hyperammonemia
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12. Full Text Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa
by Neilan, Edward G and Delgado, Mauricio R and Donovan, Melissa A and Kim, Sara Y and Jou, Rita L and Wu, Bai-Lin and Kang, Peter B
Archives of Neurology, ISSN 0003-9942, 08/2008, Volume 65, Issue 8, pp. 1117 - 1121
BACKGROUND Gait difficulties, tremors, and coordination difficulties are common features of Cockayne syndrome that are consequences of leukodystrophy,... 
NUCLEOTIDE REPAIR DISORDERS | XERODERMA-PIGMENTOSUM | NEURODEGENERATION | SYNDROME TYPE-A | MUTATIONS | LESIONS | CLINICAL NEUROLOGY | Cockayne Syndrome - complications | Humans | Male | Movement Disorders - complications | Levodopa - administration & dosage | Adolescent | Cockayne Syndrome - genetics | Female | Movement Disorders - genetics | Drug Therapy, Combination | Carbidopa - administration & dosage | Cockayne Syndrome - drug therapy | Movement Disorders - drug therapy
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13. Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa
by Edward G Neilan and Mauricio R Delgado and Melissa A Donovan and Sara Y Kim and Rita L Jou and Bai-Lin Wu and Peter B Kang
Archives of Neurology, ISSN 0003-9942, 08/2008, Volume 65, Issue 8, p. 1117
  Gait difficulties, tremors, and coordination difficulties are common features of Cockayne syndrome that are consequences of leukodystrophy, cerebellar... 
Studies | Neurology | Clinical trials | Genetics | Mutation | Drug therapy | Neurological disorders
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14. Full Text Biosynthesis of toxic naturally-occurring seafood contaminants
by Kalaitzis, John A and Chau, Rocky and Kohli, Gurjeet S and Murray, Shauna A and Neilan, Brett A
Toxicon, ISSN 0041-0101, 2010, Volume 56, Issue 2, pp. 244 - 258
Outbreaks of human illness caused by the consumption of contaminated seafood, continues to be a major problem particularly for the shellfish industry. Toxins... 
Polyketide | Tetrodotoxin | Brevetoxin | Saxitoxin | Harmful algal blooms | Nonribosomal peptide | Marine algae | Toxin biosynthesis | Cyanobacteria | Polyether | Ciguatoxin | DIATOM NITZSCHIA-PUNGENS | PRINCE-EDWARD-ISLAND | TANDEM MASS-SPECTROMETRY | POLYKETIDE SYNTHASE GENES | OKADAIC ACID | TETRODOTOXIN-PRODUCING BACTERIA | GYMNODINIUM-BREVE DAVIS | CYANOBACTERIUM CYLINDROSPERMOPSIS-RACIBORSKII | PHARMACOLOGY & PHARMACY | TOXICOLOGY | DINOFLAGELLATE PROROCENTRUM-LIMA | PARALYTIC SHELLFISH POISONS | Neurotoxins - chemistry | Food Contamination - analysis | Genomics | Humans | Marine Toxins - poisoning | Shellfish Poisoning - metabolism | Marine Toxins - biosynthesis | Dinoflagellida - genetics | Animals | Marine Toxins - chemistry | Neurotoxins - biosynthesis | Disease Outbreaks | Neurotoxins - poisoning | Dinoflagellida - metabolism | Foodborne Diseases - etiology | Shellfish - analysis | Harmful Algal Bloom - physiology | Index Medicus | Pathways | Shellfish | Precursors | Seafood | Biosynthesis | Poisoning | Toxins | Assembly | Feeding
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15. Full Text Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease
by Yuming Wang and Probir Chakravarty and Michael Ranes and Gavin Kelly and Philip J. Brooks and Edward Neilan and Aengus Stewart and Giampietro Schiavo and Jesper Q. Svejstrup
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2014, Volume 111, Issue 40, pp. 14454 - 14459
Cockayne syndrome (CS) is a multisystem disorder with severe neurological symptoms. The majority of CS patients carry mutations in Cockayne syndrome group B... 
Cockayne syndrome | Nervous system diseases | Neurons | Genes | Cell lines | Schwann cells | Fibroblasts | Gene expression | DNA repair | Cellular differentiation | CSA | Neurology | Neuritogenesis | Reprogramming | Gene regulation | CELLS | PROTEIN | CONVERSION | MULTIDISCIPLINARY SCIENCES | SENSITIVITY | MECHANISMS | FIBROBLASTS | reprogramming | gene regulation | ELONGATION | PRODUCT | NEURONS | neuritogenesis | DNA-REPAIR | neurology | Oligonucleotide Array Sequence Analysis | Humans | DNA Repair Enzymes - genetics | Neurons - cytology | Cell Transdifferentiation - genetics | Gene Expression Profiling | Gene Regulatory Networks | Cockayne Syndrome - pathology | Poly-ADP-Ribose Binding Proteins | RNA Interference | DNA Repair Enzymes - metabolism | HEK293 Cells | Neurons - metabolism | DNA Helicases - genetics | Gene Ontology | Fibroblasts - metabolism | Cell Line | Cockayne Syndrome - metabolism | Cells, Cultured | Gene Expression Regulation | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | DNA Helicases - metabolism | Animals | Cockayne Syndrome - genetics | Cell Line, Tumor | Fibroblasts - cytology | Mice | Microscopy, Fluorescence | Causes of | Genetic research | Genetic aspects | Research | Neurological research | Biological Sciences
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16. Full Text Copy number variation plays an important role in clinical epilepsy
by Olson, Heather and Shen, Yiping and Avallone, Jennifer and Sheidley, Beth R and Pinsky, Rebecca and Bergin, Ann M and Berry, Gerard T and Duffy, Frank H and Eksioglu, Yaman and Harris, David J and Hisama, Fuki M and Ho, Eugenia and Irons, Mira and Jacobsen, Christina M and James, Philip and Kothare, Sanjeev and Khwaja, Omar and Lipton, Jonathan and Loddenkemper, Tobias and Markowitz, Jennifer and Maski, Kiran and Megerian, J. Thomas and Neilan, Edward and Raffalli, Peter C and Robbins, Michael and Roberts, Amy and Roe, Eugene and Rollins, Caitlin and Sahin, Mustafa and Sarco, Dean and Schonwald, Alison and Smith, Sharon E and Soul, Janet and Stoler, Joan M and Takeoka, Masanori and Tan, Wen‐Han and Torres, Alcy R and Tsai, Peter and Urion, David K and Weissman, Laura and Wolff, Robert and Wu, Bai‐Lin and Miller, David T and Poduri, Annapurna
Annals of Neurology, ISSN 0364-5134, 06/2014, Volume 75, Issue 6, pp. 943 - 958
Objective To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care... 
INTELLECTUAL DISABILITY | MOLECULAR CHARACTERIZATION | CHROMOSOMAL MICROARRAY | 15Q13.3 MICRODELETIONS | FAMILIAL NEONATAL SEIZURES | IDIOPATHIC GENERALIZED EPILEPSY | CONTIGUOUS-GENE-SYNDROME | SEVERE MYOCLONIC EPILEPSY | COMPARATIVE-GENOMIC-HYBRIDIZATION | AUTISM SPECTRUM DISORDERS | NEUROSCIENCES | CLINICAL NEUROLOGY | International Classification of Diseases | Oligonucleotide Array Sequence Analysis | Humans | Chromosome Disorders - complications | Epilepsy - genetics | Female | Male | DNA Copy Number Variations - genetics | Electroencephalography | Gene Expression Profiling | Retrospective Studies | Epilepsy - etiology | Autism | Convulsions & seizures | Epilepsy | chromosomal microarray | chromosomal abnormalities | array comparative genomic hybridization (aCGH) | deletions | copy number variants | duplications
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