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1. Full Text Genetic variants near TIMP3 and high-density lipoprotein—associated loci influence susceptibility to age-related macular degeneration
by Wei Chen and Dwight Stambolian and Albert O. Edwards and Kari E. Branham and Mohammad Othman and Johanna Jakobsdottir and Nirubol Tosakulwong and Margaret A. Pericak-Vance and Peter A. Campochiaro and Michael L. Klein and Perciliz L. Tan and Yvette P. Conley and Atsuhiro Kanda and Laura Kopplin and Yanming Li and Katherine J. Augustaitis and Athanasios J. Karoukis and William K. Scott and Anita Agarwal and Jaclyn L. Kovach and Stephen G. Schwartz and Eric A. Postel and Matthew Brooks and Keith H. Baratz and William L. Brown and Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group and Alexander J. Brucker and Anton Orlin and Gary Brown and Allen Ho and Carl Regillo and Larry Donoso and Lifeng Tian and Brian Kaderli and Dexter Hadley and Stephanie A. Hagstrom and Neal S. Peachey and Ronald Klein and Barbara E. K. Klein and Norimoto Gotoh and Kenji Yamashiro and Frederick Ferris and Jesen A. Fagerness and Robyn Reynolds and Lindsay A. Farrer and Ivana K. Kim and Joan W. Miller and Marta Cortón and Angel Carracedo and Manuel Sanchez-Salorio and Elizabeth W. Pugh and Kimberly F. Doheny and Maria Brion and Margaret M. DeAngelis and Daniel E. Weeks and Donald J. Zack and Emily Y. Chew and John R. Heckenlively and Nagahisa Yoshimura and Sudha K. Iyengar and Peter J. Francis and Nicholas Katsanis and Johanna M. Seddon and Jonathan L. Haines and Michael B. Gorin and Gonçalo R. Abecasis and Anand Swaroop and Mark T. Keating and Complications Age-Related Macular and Complications of Age-Related Macular Degeneration Prevention Trial Research Group and Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2010, Volume 107, Issue 16, pp. 7401 - 7406
We executed a genome-wide association scan for age-related macular degeneration (AMD) in 2,157 cases and 1,150 controls. Our results validate AMD... 
Macular degeneration | Drusen | Genes | Alleles | Disease risk | Genetic loci | P values | Disease susceptibility | Chromosomes | Genotypes | Genome-wide association study | Single nucleotide polymorphism | MACULOPATHY | DRUSEN | RISK-FACTORS | METAANALYSIS | single nucleotide polymorphism | MULTIDISCIPLINARY SCIENCES | POLYMORPHISM | COMPLEMENT FACTOR-H | DEPOSITS | genome-wide association study | DISEASE | COMMON | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Lipoproteins, HDL - metabolism | Complement Factor I - genetics | Genotype | Risk | Chromosome Mapping | Tissue Inhibitor of Metalloproteinase-3 - physiology | Case-Control Studies | Genetic Variation | Regression Analysis | Macular Degeneration - genetics | Polymorphism, Single Nucleotide | Tissue Inhibitor of Metalloproteinase-3 - genetics | Genetic susceptibility | High density lipoproteins | Physiological aspects | Genetic aspects | Single nucleotide polymorphisms | Properties | Identification and classification | Risk factors | Studies | Genotype & phenotype | Enzymes | Lipoproteins | Pathogenesis | Genetics | Comparative analysis | Biological Sciences
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2. Full Text A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Henik and Bala, Elisa and ELee, Kristine and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Francesco and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T.E and Guymer, Robyn and Johnson, Matthew and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabrielle and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratna Priya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and Strachwitz, Claudia and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and ETsironi, Evangelia and Park, Kyu Hyung and Farrer, Lindsay and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Sa'd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hél'ne and Deleuze, Jean-Fran'ois and Igo Jr., Robert and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 134 - 143
textabstractAdvanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report... 
METAANALYSIS | GENE | SEQUENCING IDENTIFIES RARE | HIGH-RISK | DISEASE | MUTATION | BIOLOGY | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | BODY-MASS INDEX | OSTEOARTHRITIS | Genetic Predisposition to Disease | Genome-Wide Association Study | Mutation | Macular Degeneration - genetics | Humans | Macular degeneration | Genetic variation | Development and progression | Genetic aspects | Gene expression | Identification and classification | Health aspects | Proteins | Studies | Confidence intervals | Datasets | Angiogenesis | Data analysis | Genealogy | Disease | Genomics | Quality control | Genomes
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3. Genetic analysis of complex disease
by Haines, Jonathan L., 1957 and Pericak-Vance, Margaret Ann
2003, 2nd ed., ISBN 0471089524, 512
Second Edition features the latest tools for uncovering the genetic basis of human disease The Second Edition of this landmark publication brings together a... 
Medical genetics | Genetic disorders | Molecular diagnosis | Technique | Gene mapping
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4. Full Text Seven new loci associated with age-related macular degeneration
by Fritsche, Lars G and Chen, Wei and Schu, Matthew and Yaspan, Brian L and Yu, Yi and Thorleifsson, Gudmar and Zack, Donald J and Arakawa, Satoshi and Cipriani, Valentina and Ripke, Stephan and Igo, Robert P and Buitendijk, Gabriëlle H. S and Sim, Xueling and Weeks, Daniel E and Guymer, Robyn H and Merriam, Joanna E and Francis, Peter J and Hannum, Gregory and Agarwal, Anita and Armbrecht, Ana Maria and Audo, Isabelle and Aung, Tin and Barile, Gaetano R and Benchaboune, Mustapha and Bird, Alan C and Bishop, Paul N and Branham, Kari E and Brooks, Matthew and Brucker, Alexander J and Cade, William H and Cain, Melinda S and Campochiaro, Peter A and Chan, Chi-Chao and Cheng, Ching-Yu and Chew, Emily Y and Chin, Kimberly A and Chowers, Itay and Clayton, David G and Cojocaru, Radu and Conley, Yvette P and Cornes, Belinda K and Daly, Mark J and Dhillon, Baljean and Edwards, Albert O and Evangelou, Evangelos and Fagerness, Jesen and Ferreyra, Henry A and Friedman, James S and Geirsdottir, Asbjorg and George, Ronnie J and Gieger, Christian and Gupta, Neel and Hagstrom, Stephanie A and Harding, Simon P and Haritoglou, Christos and Heckenlively, John R and Holz, Frank G and Hughes, Guy and Ioannidis, John P. A and Ishibashi, Tatsuro and Joseph, Peronne and Jun, Gyungah and Kamatani, Yoichiro and Katsanis, Nicholas and N Keilhauer, Claudia and Khan, Jane C and Kim, Ivana K and Kiyohara, Yutaka and Klein, Barbara E. K and Klein, Ronald and Kovach, Jaclyn L and Kozak, Igor and Lee, Clara J and Lee, Kristine E and Lichtner, Peter and Lotery, Andrew J and Meitinger, Thomas and Mitchell, Paul and Mohand-Saïd, Saddek and Moore, Anthony T and Morgan, Denise J and Morrison, Margaux A and Myers, Chelsea E and Naj, Adam C and Nakamura, Yusuke and Okada, Yukinori and Orlin, Anton and Ortube, M Carolina and Othman, Mohammad I and Pappas, Chris and Park, Kyu Hyung and Pauer, Gayle J. T and Peachey, Neal S and Poch, Olivier and Priya, Rinki Ratna and Reynolds, Robyn and Richardson, Andrea J and Ripp, Raymond and Rudolph, Guenther and Ryu, Euijung and ... and AMD Gene Consortium and The AMD Gene Consortium
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 433 - 439
Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new... 
COMPLEMENT FACTOR-H | INFLUENCES RISK | GENE | VARIANTS | CFH | SUSCEPTIBILITY | GENETICS & HEREDITY | POLYMORPHISM | HAPLOTYPE | GENOME-WIDE ASSOCIATION | APOLIPOPROTEIN-E | Biomarkers - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Meta-Analysis as Topic | Macular Degeneration - genetics | Humans | Risk Factors | Genetic Loci - genetics | Polymorphism, Single Nucleotide - genetics | Female | Male | Case-Control Studies | Macular degeneration | Quantitative trait loci | Care and treatment | Genetic aspects | Single nucleotide polymorphisms | Research | Identification and classification | Risk factors | Genomes | Genealogy | Disease | Meta-analysis
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5. Approaches to gene mapping in complex human diseases
by Haines, Jonathan L and Pericak-Vance, Margaret Ann
1998, ISBN 0471171956, xxii, 434
Human gene mapping | Genetic disorders
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6. Full Text Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
by Deng, Han-Xiang and Chen, Wenjie and Hong, Seong-Tshool and Boycott, Kym M and Gorrie, George H and Siddique, Nailah and Yang, Yi and Fecto, Faisal and Shi, Yong and Zhai, Hong and Jiang, Hujun and Hirano, Makito and Rampersaud, Evadnie and Jansen, Gerard H and Donkervoort, Sandra and Bigio, Eileen H and Brooks, Benjamin R and Ajroud, Kaouther and Sufit, Robert L and Haines, Jonathan L and Mugnaini, Enrico and Pericak-Vance, Margaret A and Siddique, Teepu
Nature, ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of... 
GENE-MUTATIONS | CRITERIA | PROTEIN AGGREGATION | FUS | TDP-43 | MULTIDISCIPLINARY SCIENCES | PROTEASOME | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | SUPEROXIDE-DISMUTASE | DOMAINS | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Humans | Ubiquitin - metabolism | Molecular Sequence Data | Male | Dementia - genetics | DNA-Binding Proteins - metabolism | Base Sequence | Aging | Cell Cycle Proteins - genetics | Adult | Female | Child | Amino Acid Sequence | Cell Line | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Pedigree | Age of Onset | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Research | Gene mutations | Dementia | Proteins | Studies | Pathology | Pathogenesis | Neurodegeneration | Mutation | Alzheimers disease | Chromosomes | Deoxyribonucleic acid--DNA
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7. Full Text Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
by Nalls, Mike A and Pankratz, Nathan and Lill, Christina M and Do, Chuong B and Hernandez, Dena G and Saad, Mohamad and DeStefano, Anita L and Kara, Eleanna and Bras, Jose and Sharma, Manu and Schulte, Claudia and Keller, Margaux F and Arepalli, Sampath and Letson, Christopher and Edsall, Connor and Stefansson, Hreinn and Liu, Xinmin and Pliner, Hannah and Lee, Joseph H and Cheng, Rong and Ikram, M. Arfan and Ioannidis, John P. A and Hadjigeorgiou, Georgios M and Bis, Joshua C and Martinez, Maria and Perlmutter, Joel S and Goate, Alison and Marder, Karen and Fiske, Brian and Sutherland, Margaret and Xiromerisiou, Georgia and Myers, Richard H and Clark, Lorraine N and Stefansson, Kari and Hardy, John A and Heutink, Peter and Chen, Honglei and Wood, Nicholas W and Houlden, Henry and Payami, Haydeh and Brice, Alexis and Scott, William K and Gasser, Thomas and Bertram, Lars and Eriksson, Nicholas and Foroud, Tatiana and Singleton, Anew B and Plagnol, Vincent and Sheerin, Una-Marie and Simón-Sánchez, Javier and Lesage, Suzanne and Sveinbjörnsdóttir, Sigurlaug and Barker, Roger and Ben-Shlomo, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessano and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Cooper, J. Mark and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Dürr, Alexana and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Dong, Jing and Gardner, Michelle and Gibbs, J. Raphael and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Wurster, Isabel and Mätzler, Walter and ... and GenePD and IPDG and Ashkenazi Jewish Dataset Investiga and 23AndMe and NABEC and HIHG and Greek Parkinson's Dis Consortium and GParkinson's Study Grp PSG Parkins and NGRC and Alzheimer Genetic Analysis Gr and CHARGE and UKBEC and Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) and Hussman Institute of Human Genomics (HIHG) and 23andMe and Greek Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium (IPDGC) and Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) and United Kingdom Brain Expression Consortium (UKBEC) and NeuroGenetics Research Consortium (NGRC) and Ashkenazi Jewish Dataset Investigator and North American Brain Expression Consortium (NABEC) and Alzheimer Genetic Analysis Group and The Ashkenazi Jewish Dataset Investigator
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 9, pp. 989 - +
We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282... 
HEART | IMPUTATION | VARIANTS | GENES | SIZE | GENETICS & HEREDITY | PREDICTION | REGION | Genetic Predisposition to Disease | Humans | Risk Factors | Genotype | Polymorphism, Single Nucleotide | Genetic Loci | Parkinson Disease - genetics | Genome-Wide Association Study - methods | Case-Control Studies | Genome-wide association studies | Parkinson's disease | Genetic aspects | Single nucleotide polymorphisms | Identification and classification | Methods | Risk factors | Studies | Genealogy | Parkinsons disease | Quality control | DNA methylation | Statistical methods | Genomes | Health risk assessment | Meta-analysis
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8. Full Text Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an... 
INTELLECTUAL DISABILITY | DUPLICATIONS | DE-NOVO MUTATIONS | PHENOTYPE ONTOLOGY | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | RISK | COPY NUMBER VARIANTS | STRUCTURAL VARIATION | DELETIONS | GENOME-WIDE ASSOCIATION | Sequence Deletion | Metabolic Networks and Pathways - genetics | Multigene Family | Child Development Disorders, Pervasive - genetics | Pedigree | Humans | Female | Male | Gene Regulatory Networks | Child | DNA Copy Number Variations | Genetic research | Autism | Genetic code | Genetic aspects | Research | Genetic variation | Proteins | Chromatin | Learning disabilities | Genes | Neurological disorders | Life Sciences | Genetics | Psykiatri | Psychiatry
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