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1. Full Text The genetic basis of DOORS syndrome: an exome-sequencing study
by Campeau, Philippe M, MD and Kasperaviciute, Dalia, PhD and Lu, James T, PhD and Burrage, Lindsay C, PhD and Kim, Choel, PhD and Hori, Mutsuki, MD and Powell, Berkley R, MD and Stewart, Fiona, MBBS and Félix, Têmis Maria, PhD and van den Ende, Jenneke, MD and Wisniewska, Marzena, PhD and Kayserili, Hülya, MD and Rump, Patrick, PhD and Nampoothiri, Sheela, MSc and Aftimos, Salim, MD and Mey, Antje, MD and Nair, Lal D V, MD and Begleiter, Michael L, MSc and De Bie, Isabelle, PhD and Meenakshi, Girish, MBBS and Murray, Mitzi L, MD and Repetto, Gabriela M, MD and Golabi, Mahin, MD and Blair, Edward, MD and Male, Alison, MD and Giuliano, Fabienne, MD and Kariminejad, Ariana, MD and Newman, William G and Bhaskar, Sanjeev S and Dickerson, Jonathan E and Kerr, Bronwyn and Banka, Siddharth and Giltay, Jacques C, PhD and Wieczorek, Dagmar, MD and Tostevin, Anna, MSc and Wiszniewska, Joanna, MD and Cheung, Sau Wai, Prof and Hennekam, Raoul C, Prof and Gibbs, Richard A, Prof and Lee, Brendan H, Prof and Sisodiya, Sanjay M, Prof
Lancet neurology, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Child, Preschool | Infant | Male | Hearing Loss, Sensorineural - genetics | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Nails, Malformed - genetics | Young Adult | Carrier Proteins - genetics | Exome - genetics | Hearing Loss, Sensorineural - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Internationality | Intellectual Disability - diagnosis | Adolescent | Carrier Proteins - chemistry | Female | Child | Sequence Analysis, DNA - methods | Craniofacial Abnormalities - genetics | Nails, Malformed - diagnosis | Deafness | Medical research | Medical colleges | Epilepsy | Genomics | Medical genetics | Medicine, Experimental | Genetic research | Genetic aspects | Genomes | Seizures (Medicine) | Mental illness | Index Medicus | Calvaria
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2. Full Text Genetic architecture of subcortical brain structures in 38,851 individuals
by Satizabal, Claudia L and Adams, Hieab H. H and Hibar, Derrek P and White, Charles C and Knol, Maria J and Stein, Jason L and Scholz, Markus and Sargurupremraj, Muralidharan and Jahanshad, Neda and Roshchupkin, Gennady V and Smith, Albert V and Bis, Joshua C and Jian, Xueqiu and Luciano, Michelle and Hofer, Edith and Teumer, Alexander and van der Lee, Sven J and Yang, Jingyun and Yanek, Lisa R and Lee, Tom V and Li, Shuo and Hu, Yanhui and Koh, Jia Yu and Eicher, John D and Desrivières, Sylvane and Arias-Vasquez, Alejano and Chauhan, Ganesh and Athanasiu, Lavinia and Rentería, Miguel E and Kim, Sungeun and Hoehn, David and Armstrong, Nicola J and Chen, Qiang and Holmes, Avram J and den Braber, Anouk and Kloszewska, Iwona and Andersson, Micael and Espeseth, Thomas and Grimm, Oliver and Abramovic, Lucija and Alhusaini, Saud and Milaneschi, Yuri and Papmeyer, Martina and Axelsson, Tomas and Ehrlich, Stefan and Roiz-Santiañez, Roberto and Kraemer, Bernd and Håberg, Asta K and Jones, Hannah J and Pike, G. Bruce and Stein, Dan J and Stevens, Allison and Bralten, Janita and Vernooij, Meike W and Harris, Tamara B and Filippi, Irina and Witte, A. Veronica and Guadalupe, Tulio and Wittfeld, Katharina and Mosley, Thomas H and Becker, James T and Doan, Nhat Trung and Hagenaars, Saskia P and Saba, Yasaman and Cuellar-Partida, Gabriel and Amin, Najaf and Hilal, Saima and Nho, Kwangsik and Mirza-Schreiber, Nazanin and Arfanakis, Konstantinos and Becker, Diane M and Ames, David and Goldman, Aaron L and Lee, Phil H and Boomsma, Dorret I and Lovestone, Simon and Giddaluru, Sudheer and le Hellard, Stephanie and Mattheisen, Manuel and Bohlken, Marc M and Kasperaviciute, Dalia and Schmaal, Lianne and Lawrie, Stephen M and Agartz, Ingrid and Walton, Esther and Tordesillas-Gutierrez, Diana and Davies, Gareth E and Shin, Jean and Ipser, Jonathan C and Vinke, Louis N and Hoogman, Martine and Jia, Tianye and Burkhardt, Ralph and Klein, Marieke and Crivello, Fabrice and Janowitz, Deborah and Carmichael, Owen and Haukvik, Unn K and Aribisala, Benjamin S and Schmidt, Helena and ...
Nature genetics, ISSN 1061-4036, 2019, Volume 51, Issue 11, pp. 1624 - 1636
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Brain - anatomy & histology | Humans | Middle Aged | Organ Size | Neurodevelopmental Disorders - genetics | Drosophila melanogaster - genetics | Neurodevelopmental Disorders - pathology | Brain - metabolism | Drosophila melanogaster - metabolism | Genetic Variation | Magnetic Resonance Imaging | Animals | Adult | Drosophila melanogaster - growth & development | Aged | Cohort Studies | Neuroimaging | Brain | Genome-wide association studies | Genetic variation | Analysis | Genetic aspects | Structure | Nuclear magnetic resonance--NMR | Amygdala | Brain stem | Memory | Genes | Genomics | Genomes | Consortia | Caudate nucleus | Annotations | Databases | DNA methylation | Thalamus | Bioinformatics | Phenotypes | Stroke | Brain architecture | Globus pallidus | Genetic diversity | Gene expression | Putamen | Loci | Neurological diseases | Nucleus accumbens | Studies | Pathology | Insects | Quality control | Neurodevelopment | Fruit flies | Gene loci | Methylation | Alzheimers disease | Axonal transport | Apoptosis | Index Medicus | Medicin och hälsovetenskap
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3. Full Text Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
by Pleguezuelos-Manzano, Cayetano and Puschhof, Jens and Rosendahl Huber, Axel and van Hoeck, Arne and Wood, Henry M and Nomburg, Jason and Gurjao, Carino and Manders, Freek and Dalmasso, Guillaume and Stege, Paul B and Paganelli, Fernanda L and Geurts, Maarten H and Beumer, Joep and Mizutani, Tomohiro and Miao, Yi and van der Linden, Reinier and van der Elst, Stefan and Ambrose, J.C and Arumugam, P and Baple, E.L and Bleda, M and Boardman-Pretty, F and Boissiere, J.M and Boustred, C.R and Brittain, H and Caulfield, M.J and Chan, G.C and Craig, C.E.H and Daugherty, L.C and de Burca, A and Devereau, A and Elgar, G and Foulger, R.E and Fowler, T and Furió-Tarí, P and Hackett, J.M and Halai, D and Hamblin, A and Henderson, S and Holman, J.E and Hubbard, T.J.P and Ibáñez, K and Jackson, R and Jones, L.J and Kasperaviciute, D and Kayikci, M and Lahnstein, L and Lawson, L and Leigh, S.E.A and Leong, I.U.S and Lopez, F.J and Maleady-Crowe, F and Mason, J and McDonagh, E.M and Moutsianas, L and Mueller, M and Murugaesu, N and Need, A.C and Odhams, C.A and Patch, C and Perez-Gil, D and Polychronopoulos, D and Pullinger, J and Rahim, T and Rendon, A and Riesgo-Ferreiro, P and Rogers, T and Ryten, M and Savage, K and Sawant, K and Scott, R.H and Siddiq, A and Sieghart, A and Smedley, D and Smith, K.R and Sosinsky, A and Spooner, W and Stevens, H.E and Stuckey, A and Sultana, R and Thomas, E.R.A and Thompson, S.R and Tregidgo, C and Tucci, A and Walsh, E and Watters, S.A and Welland, M.J and Williams, E and Witkowska, K and Wood, S.M and Zarowiecki, M and Garcia, K. Christopher and Top, Janetta and Willems, Rob J. L and Giannakis, Marios and Bonnet, Richard and Quirke, Phil and Meyerson, Matthew and Cuppen, Edwin and van Boxtel, Ruben and ... and Genomics England Res Consortium and Genomics England Research Consortium
Nature (London), ISSN 0028-0836, 04/2020, Volume 580, Issue 7802, pp. 269 - 273
Consensus Sequence | Coculture Techniques | Humans | Gastrointestinal Microbiome | Colorectal Neoplasms/genetics | Escherichia coli/genetics | Polyketides | Mutagenesis | Peptides/genetics | Genomic Islands/genetics | Organoids/cytology | DNA Damage | Mutation | Cohort Studies | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Pathogens | Colorectal carcinoma | Genotoxicity | Colorectal cancer | Adenine | Genomes | Exposure | Metastasis | Alkylation | Gene sequencing | Datasets | Pathogenicity | Microbiota | Organoids | E coli | Intestine | Bacteria | Intestinal microflora | Signatures | Deoxyribonucleic acid--DNA | Cancer | Tumors | Index Medicus | Life Sciences | Microbiology and Parasitology | Molecular biology | Biochemistry, Molecular Biology | Bacteriology
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4. Full Text Common genetic variants influence human subcortical brain structures
by Hibar, Derrek and Stein, J.L and Rentería, Miguel and Arias-Vásquez, Alejano and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brown, Anew and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Cuellar-Partida, Gabriel and Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and MacAre, Christine and Mather, R and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon and Roiz-Santiañez, Roberto and Rose, Emma and Salami, Alireza and Sämann, Philipp and Schmaal, Lianne and Schork, Nicholas and Shin, Jean and Strike, Lachlan and Teumer, Alexander and Van Donkelaar, Marjolein M. J and Eijk, Kristel and Walters, Raymond and Westlye, Lars and Whelan, Christopher and Winkler, Anderson and Zwiers, Marcel and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina and Hartberg, Cecilie B and Haukvik, Unn and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C and Lopez, Lorna and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and McKay, Reese and Needham, Margaret and Nugent, Allison and Pütz, Benno and Royle, Natalie and Shen, Li and Sprooten, Roy and Trabzuni, Danyah and Van Der Marel, Saskia S. L and Van Hulzen, Kimm J. E and Walton, Esther and Björnsson, Asgeir and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, A.A and Bastin, Mark and Brodaty, Henry and Bulayeva, Kazima and Carless, Melanie and Cichon, Sven and Corvin, Aiden and Curran, Joanne and Czisch, Michael and ... and EPIGEN and SYS and Alzheimers Dis Neuroimaging and CHARGE Consortium and IMAGEN and Alzheimer’s Disease Neuroimaging Initiative and The Alzheimer’s Disease Neuroimaging Initiative and The CHARGE Consortium
Nature (London), ISSN 0028-0836, 04/2015, Volume 520, Issue 7546, pp. 224 - 229
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Caudate Nucleus - anatomy & histology | Brain - anatomy & histology | Humans | Middle Aged | Genetic Loci - genetics | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Young Adult | Putamen - anatomy & histology | Aging - genetics | Organ Size - genetics | Aged, 80 and over | Adult | Female | Child | Genome-Wide Association Study | Membrane Proteins - genetics | Sex Characteristics | Magnetic Resonance Imaging | Skull - anatomy & histology | Adolescent | Aged | Genetic Variation - genetics | Hippocampus - anatomy & histology | Genetic research | Brain | Genetic aspects | Brain research | Research | Genetic variation | Genomics | Genomes | Epigenetics | Genes | Index Medicus | Neuroscience | Cognitive science | Medicin och hälsovetenskap
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5. Full Text Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
by Wei, Wei and Pagnamenta, Alistair T and Gleadall, Nicholas and Sanchis-Juan, Alba and Stephens, Jonathan and Broxholme, John and Tuna, Salih and Odhams, Christopher A and Ambrose, J.C and Baple, E.L and Bleda, M and Boardman-Pretty, F and Boissiere, J.M and Boustred, C.R and Caulfield, M.J and Chan, G.C and Craig, C.E.H and Daugherty, L.C and de Burca, A and Devereau, A and Elgar, G and Foulger, R.E and Fowler, T and Furió-Tarí, P and Hackett, J.M and Halai, D and Holman, J.E and Hubbard, T.J.P and Jackson, R and Kasperaviciute, D and Kayikci, M and Lahnstein, L and Lawson, K and Leigh, S.E.A and Leong, I.U.S and Lopez, F.J and Maleady-Crowe, F and Mason, J and McDonagh, E.M and Moutsianas, L and Mueller, M and Murugaesu, N and Need, A.C and Odhams, Christopher A and Patch, C and Perez-Gil, D and Polychronopoulos, D and Pullinger, J and Rahim, T and Rendon, A and Riesgo-Ferreiro, P and Rogers, T and Ryten, M and Savage, K and Sawant, K and Scott, R.H and Siddiq, A and Sieghart, A and Smedley, D and Smith, K.R and Sosinsky, A and Spooner, W and Stevens, H.E and Stuckey, A and Sultana, R and Thomas, E.R.A and Thompson, S.R and Tregidgo, C and Tucci, A and Walsh, E and Watters, S.A and Welland, M.J and Williams, E and Witkowska, K and Wood, S.M and Zarowiecki, M and Sanchis-Juan, Alba and Stephens, Jonathan and Tuna, Salih and Turro, Ernest and Chinnery, Patrick F and Fratter, Carl and Turro, Ernest and Taylor, Jenny C and Rahman, Shamima and Chinnery, Patrick F and NIHR BioResource and Genomics England Res Consortium and Genomics England Research Consortium
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 1740 - 1740
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Haplotypes | Offspring | Nucleotide sequence | Heteroplasmy | Segments | Heredity | Genomes | Mitochondrial DNA | Deoxyribonucleic acid--DNA | Index Medicus
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6. Full Text HLA-A3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
by McCormack, Mark and Alfirevic, Ana and Bourgeois, Stephane and Farrell, John J and Kasperavičiūtė, Dalia and Carrington, Mary and Sills, Graeme J and Marson, Tony and Jia, Xiaoming and de Bakker, Paul I.W and Chinthapalli, Krishna and Molokhia, Mariam and Johnson, Michael R and O'Connor, Gerard D and Chaila, Elijah and Alhusaini, Saud and Shianna, Kevin V and Radtke, Rodney A and Heinzen, Erin L and Walley, Nicole and Pandolfo, Massimo and Pichler, Werner and Park, B. Kevin and Depondt, Chantal and Sisodiya, Sanjay M and Goldstein, David B and Deloukas, Panos and Delanty, Norman and Cavalleri, Gianpiero L and Pirmohamed, Munir
The New England journal of medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 12, pp. 1134 - 1143
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | General aspects | Miscellaneous | Pharmacology. Drug treatments | Biological and medical sciences | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Exanthema - genetics | Histocompatibility Testing | Humans | Anticonvulsants - therapeutic use | Carbamazepine - therapeutic use | Genotype | Stevens-Johnson Syndrome - chemically induced | Stevens-Johnson Syndrome - genetics | Anticonvulsants - adverse effects | Carbamazepine - adverse effects | Exanthema - chemically induced | Drug Hypersensitivity - genetics | HLA-A Antigens - genetics | Polymorphism, Single Nucleotide | Complications and side effects | Europeans | Stevens-Johnson syndrome | Toxic epidermal necrolysis | Histocompatibility antigens | HLA histocompatibility antigens | Causes of | Rash (Dermatology) | Diagnosis | Health aspects | Carbamazepine | Drug therapy | Mortality | Index Medicus | Abridged Index Medicus
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