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index medicus (68) 68
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1. Full Text Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
by Kirov, George and Grozeva, Detelina and Norton, Nadine and Ivanov, Dobril and Mantripragada, Kiran K and Holmans, Peter and Craddock, Nick and Owen, Michael J and O'Donovan, Michael C and Wellcome Trust Case Control Consor and Int Schizophrenia Consortium and International Schizophrenia Consortium and Wellcome Trust Case Control Consortium and the Wellcome Trust Case Control Consortium
Human Molecular Genetics, ISSN 0964-6906, 4/2009, Volume 18, Issue 8, pp. 1497 - 1503
We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases of schizophrenia and 2792 controls that had been genotyped using the... 
DUPLICATIONS | ABNORMALITIES | CORTEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | RISK | ASSOCIATION | DELETIONS | CARDIO-FACIAL SYNDROME | Schizophrenia - genetics | Gene Deletion | Humans | Female | Male | United Kingdom | Gene Dosage | Polymorphism, Single Nucleotide | Index Medicus | Association Studies
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2. Full Text Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
by McGhee, Kevin A and Owen, Michael J and Corvin, Aiden P and Nikolov, Ivan and Jones, Ian R and Gurling, Hugh M and Nimgaonkar, Vishwajit L and Collier, David A and Fan, Jinbo and Holmans, Peter A and Farmer, Anne and O'Donovan, Michael C and Smoller, Jordan W and Caesar, Sian and Kirov, George and Williamson, Richard and Kandaswamy, Radhika and Purcell, Shaun M and Sklar, Pamela and Moskvina, Valentina and Anjorin, Adebayo and Thase, Michael E and Blackwood, Douglas H and Perlis, Roy H and Curtis, David and Daly, Mark J and Gordon-Smith, Katherine and Meng, Yan A and Grozeva, Detelina and Bass, Nicholas J and Hamshere, Marian L and Franklin, Jennifer and McQuillin, Andrew and Scolnick, Edward M and Jones, Lisa and Stone, Jennifer and Pereira, Ana C P and Gill, Michael and Craddock, Nick and Green, Elaine K and Blumenstiel, Brendan and Defelice, Matthew and Gabriel, Stacey B and Lawrence, Jacob and Chambert, Kimberly and MacIntyre, Donald J and Ruderfer, Douglas M and MacLean, Alan W and Sachs, Gary S and Fraser, Christine and McGuffin, Peter and St Clair, David and Nicol Ferrier, I and Elkin, Amanda and Muir, Walter J and Young, Allan H and Breen, Gerome and Ferreira, Manuel A R and Ardlie, Kristin G and Van Beck, Margaret and Robinson, Michelle and Morris, Derek W and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature Genetics, ISSN 1061-4036, 09/2008, Volume 40, Issue 9, pp. 1056 - 1058
To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong... 
RANVIER | LOCI | DISEASES | GENES | GENETICS & HEREDITY | Genetic Predisposition to Disease | Genome-Wide Association Study | Calcium Channels, L-Type - genetics | Ankyrins - genetics | Chromosomes, Human, Pair 15 | Humans | Logistic Models | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Bipolar Disorder - genetics | Chromosomes, Human, Pair 10 | Calcium channels | Genetic variation | Bipolar disorder | Genetic aspects | Research | Health aspects | Risk factors | Studies | Blood transfusions | Medical research | Inflation | Trinity | Colleges & universities | Index Medicus
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3. Full Text Microduplications of 16p11.2 are associated with schizophrenia
by Walsh, Tom and Gary, Sydney and Sutcliffe, James S and Addington, Anjene M and Chitkara, Nisha and Levy, Deborah L and Cichon, Sven and DeRosse, Pamela and Malhotra, Anil K and Leibenluft, Ellen and Dickel, Diane E and Lee, Yoon-ha and Zackai, Elaine H and Stroup, T Scott and McCarthy, Shane E and Crow, Timothy J and McMahon, Francis J and Lakshmi, B and Christian, Susan L and Malhotra, Dheeraj and McClellan, Jon and Goodell, Meredith and Spinner, Nancy B and Pearl, Justin and Wolff, Jessica and Bhandari, Abhishek and Iakoucheva, Lilia M and Deutsch, Curtis K and Pavon, Kevin and Nöthen, Markus M and Gallagher, Louise and Roccanova, Patricia and Lieberman, Jeffrey A and DeLisi, Lynn E and Puura, Kaija and Skuse, David and Rapoport, Judith and Willour, Virginia L and Kirov, George and Vacic, Vladimir and Makarov, Vladimir and Haldeman-Englert, Chad and Sullivan, Patrick F and Schulze, Thomas G and Craddock, Nick and Kendall, Jude and Perkins, Diana O and Kusenda, Mary and Lehtimäki, Terho and Kassem, Layla and Yoon, Seungtai and Krastoshevsky, Olga and Sebat, Jonathan and Owen, Michael J and Ganesh, Jaya and Gill, Michael and King, Mary-Claire and Steele, Jo and Krause, Verena and Susser, Ezra and Mendell, Nancy R and Leotta, Anthony and Shaikh, Tamim H and Kaplan, Paige and Potash, James B and Krantz, Ian D and Grozeva, Detelina and Lajonchere, Clara M and O'Donovan, Michael C and Kustanovich, Vlad and Rietschel, Marcella and Kumar, Ravinesh A and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature Genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental... 
INDIVIDUALS | HUMAN GENOME | DISRUPTION | GENES | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | RECURRENT REARRANGEMENTS | 1ST YEAR | DELETIONS | PERVASIVE DEVELOPMENTAL DISORDERS | HEAD CIRCUMFERENCE | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Schizophrenia | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
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4. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
by Bianciardi, Laura and Fichera, Marco and Failla, Pinella and Di Marco, Chiara and Grozeva, Detelina and Mencarelli, Maria Antonietta and Spiga, Ottavia and Mari, Francesca and Meloni, Ilaria and Raymond, Lucy and Renieri, Alessandra and Romano, Corrado and Ariani, Francesca
Journal of Human Genetics, ISSN 1434-5161, 02/2016, Volume 61, Issue 2, pp. 95 - 101
Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling.... 
POLYMORPHISMS | GENE | CHROMATIN | SERVER | GENETICS & HEREDITY | TRANSCRIPTIONAL REPRESSION | METHYLATED DNA | CLASSIC RETT-SYNDROME | BINDING PROTEIN | IDENTIFICATION | FAMILY | Humans | Child, Preschool | Male | Mutation, Missense | Protein Domains - genetics | Genetic Diseases, X-Linked - diagnosis | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | Phenotype | Intellectual Disability - diagnosis | Adult | Female | Genetic Diseases, X-Linked - genetics | Child
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5. Full Text Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a... 
rare sequence variant | retinal dystrophy | whole-genome sequence | copy-number variants | EXOME | DIAGNOSIS | LEBER CONGENITAL AMAUROSIS | ACTIVATION | PROTEIN | GENE | DYSTROPHY | MUTATION | GENETICS & HEREDITY | STARGARDT DISEASE | REVEALS | Rare Diseases - genetics | Retinal Diseases - genetics | Introns - genetics | Genes, Recessive - genetics | Humans | Male | Genome, Human - genetics | Choroideremia - genetics | Exome - genetics | Ethnic Groups - genetics | DNA Mutational Analysis | Base Sequence | Adaptor Proteins, Signal Transducing - genetics | Alleles | Female | Genetic Variation - genetics | Mutation | Genetic disorders | Genetic variation | Physiological aspects | Genetic aspects | Nucleotide sequencing | Health aspects | Retinal diseases | Methods | DNA sequencing | Pathology | Retina | Visual impairment | Pathogenesis | Genomics | Index Medicus
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6. Full Text Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
by Grozeva, Detelina and Carss, Keren and Spasic‐Boskovic, Olivera and Tejada, Maria‐Isabel and Gecz, Jozef and Shaw, Marie and Corbett, Mark and Haan, Eric and Thompson, Elizabeth and Friend, Kathryn and Hussain, Zaamin and Hackett, Anna and Field, Michael and Renieri, Alessandra and Stevenson, Roger and Schwartz, Charles and Floyd, James A.B and Bentham, Jamie and Cosgrove, Catherine and Keavney, Bernard and Bhattacharya, Shoumo and Hurles, Matthew and Raymond, F. Lucy and Italian X-Linked Mental Retardatio and GOLD Consortium and UK10K Consortium and Italian X-linked Mental Retardation Project
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1197 - 1204
To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or... 
developmental delay | Mendelian disease | intellectual disability | next‐generation sequencing | Intellectual disability | Next-generation sequencing | Developmental delay | MICRODELETION | VARIANTS | next-generation sequencing | STRATEGY | ARID1B | REGION | IMPACT | CHROMATIN-REMODELING COMPLEX | GENETICS | GENES | GENETICS & HEREDITY | MUTATIONS | Inheritance Patterns | Computational Biology - methods | Genetic Association Studies | Humans | Alleles | Female | Male | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Intellectual Disability - genetics | Parenting | Genetic disorders | Analysis | Cytogenetics | Family | Single nucleotide polymorphisms | Mental illness | Intellectual disabilities | Index Medicus | Life Sciences | Genetics | Human genetics
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7. Full Text De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
by Grozeva, Detelina and Carss, Keren and Spasic-Boskovic, Olivera and Parker, Michael J and Archer, Hayley and Firth, Helen V and Park, Soo-Mi and Canham, Natalie and Holder, Susan E and Wilson, Meredith and Hackett, Anna and Field, Michael and Floyd, James A.B and Hurles, Matthew and Raymond, F. Lucy and UK10K Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 04/2014, Volume 94, Issue 4, pp. 618 - 624
To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate... 
MLL2 | 3P25.3-P26.1 | GENES | DISEASE | GENETICS & HEREDITY | PATIENT | SPECTRUM | KABUKI SYNDROME | DELETION SYNDROME | FEATURES | HAPLOINSUFFICIENCY | Chromosome Deletion | Chromosomes, Human, Pair 3 | Humans | Adolescent | Methyltransferases - genetics | Male | Mutation | Child | Intellectual Disability - genetics | Psychological aspects | Gene mutations | Methyltransferases | Causes of | Genetic aspects | Chromosome deletion | Health aspects | Mental retardation | Genotype & phenotype | Learning disabilities | Behavior disorders | Genes | Index Medicus | Report
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8. Full Text Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
by Baker, Kate and Gordon, Sarah L and Grozeva, Detelina and Van Kogelenberg, Margriet and Roberts, Nicola Y and Pike, Michael and Blair, Edward and Hurles, Matthew E and Chong, W. Kling and Baldeweg, Torsten and Kurian, Manju A and Boyd, Stewart G and Cousin, Michael A and Raymond, F. Lucy and UK10K Consortium
Journal of Clinical Investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1670 - 1678
Synaptotagmin-1(SYT1) is a calcium-binding synaptic vesicle protein that is required for both exocytosis and endocytosis. Here, we describe a human condition... 
INTELLECTUAL DISABILITY | MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN BRAIN | C2B DOMAIN | PROTEIN | FUSION | NEUROTRANSMITTER RELEASE | IN-VIVO | OF-FUNCTION MUTATIONS | ENDOCYTOSIS | MEMBRANE PENETRATION | Calcium - metabolism | Humans | Molecular Sequence Data | Male | Motor Skills Disorders - genetics | Mutation, Missense | Exocytosis - physiology | Recombinant Fusion Proteins - metabolism | Intellectual Disability - genetics | Exocytosis - genetics | Genes, Dominant | Evoked Potentials, Visual | Endocytosis - genetics | Child | Synaptic Vesicles - physiology | Amino Acid Sequence | Membrane Fusion | Cells, Cultured | Rats | Presynaptic Terminals - physiology | Hippocampus - cytology | Synaptotagmin I - genetics | Endocytosis - physiology | Sequence Homology, Amino Acid | Point Mutation | Sequence Alignment | Animals | Mice | Kinetics | Movement Disorders - genetics | Synaptotagmin I - physiology | Cellular proteins | Genetic aspects | Genetic variation | Health aspects | Cellular control mechanisms | Studies | Medical research | Pediatrics | Mutation | Behavior | Age | Index Medicus | Abridged Index Medicus
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9. Full Text Genotype–phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype
by Gordon‐Smith, Katherine and Green, Elaine and Grozeva, Detelina and Tavadia, Sherine and Craddock, Nick and Jones, Lisa
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 12/2018, Volume 177, Issue 8, pp. 717 - 726
Darier disease (DD) is an autosomal dominant skin disorder caused by mutations in ATP2A2 encoding the sarco/endoplasmic reticulum Ca 2+ ATPase Isoform 2... 
neuropsychiatric features | Darier disease | genotype–phenotype correlations | POPULATION | RETICULUM STRESS-RESPONSE | ATP2A2 MUTATIONS | PSYCHIATRY | BIPOLAR DISORDER | FEATURES | CALCIUM | GENETICS & HEREDITY | genotype-phenotype correlations | ENDOPLASMIC-RETICULUM | ASSOCIATION | Disease susceptibility | Genetic aspects | Mental illness | Genetic polymorphisms | Phenotypes | Mental disorders | Schizophrenia | Bipolar disorder | Darier's disease | Ca2+-transporting ATPase | Hereditary diseases | Psychosis | Genotype & phenotype | Mutation | Endoplasmic reticulum | Adenosine triphosphatase | Calcium (reticular) | Keratosis
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