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1. Full Text Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
by Warren, Helen and Sim, Xueling and Barnes, Daniel and Staley, James R and Tragante, Vinicius and Masca, N and Ferreira, Teresa and Liu, C and Rasheed, Asif and Zhao, Wei and Narisu, Narisu and Stancáková, Alena and Fava, Cristiano and Ohlsson, T and Matchan, Angela and Stirrups, Kathy and Bork-Jensen, Jette and Gjesing, Anette and Shaw-Hawkins, Sue and Donnelly, Louise and Groves, Christopher and Neville, Matthew and Willems, Sara and Lannfelt, Lars and Trabetti, Elisabetta and Moayyeri, Alireza and Vergnaud, A.-C and Nelson, Christopher P and Poveda, A and Varga, Tibor V and De Craen, Anton J. M and Liewald, David C and Menni, Cristina and Renström, Frida and Hassinen, M and Vasan, R.S and Uria-Nickelsen, M and Lieb, Wolfgang and Highland, Heather and Justice, Anne and Marouli, Eirini and Lindström, Jaana and Lakka, Timo and Polasek, Ozren and Rudan, Igor and Rolandsson, O and Franks, Paul and Spector, Timothy and Jousilahti, Pekka and Starr, John and Wareham, Nick and Brown, Morris and Dominiczak, Anna and Jukema, Jan Wouter and Sattar, Naveed and Esko, Tõnu and Boer, Rudolf and Van Der Meer, P and Ingelsson, E and Bakker, Paul and Christensen, C and Korpi-Hyövälti, Eeva and Oksa, Heikki and Kooner, Jaspal S and Blakemore, Alexana and Husemoen, Lise Lotte and Linneberg, A and Morris, Anew and Palmer, Colin and Hveem, Kristian and Ripatti, Samuli and Salomaa, Veikko and Majumder, A.A.S and Angelantonio, Emanuele and McCarthy, Mark and Poulter, Neil and Sever, Peter and Amouyel, Philippe and Blankenberg, S and Ferrieres, Jean and Kee, Frank and Veronesi, Giovanni and Virtamo, Jarmo and Zeggini, Eleftheria and Kuusisto, Johanna and Laakso, Markku and Padmanabhan, Sandosh and Porteous, David and Hayward, Caroline and Collins, Francis and Pedersen, Oluf and Tobin, Martin and Caulfield, Mark and Mahajan, Anubha and Tomaszewski, M and Samani, Nilesh and Asselbergs, Folkert and Lindgren, Cecilia M and Howson, J.M.M and Munroe, Patricia and Understanding Soc Sci Grp and Wellcome Trust Case Control Consor and GoT2DGenes Consortium and ExomeBP Consortium and CHD Exome Consortium and Giant Consortiumm and CHARGE Exome Chip Blood Pressure C and EPIC-CVD Consortium and CHARGE Heart Failure Consortiumm and EchoGen Consortiumm and EPIC-InterAct Consortium and Lifelines Cohort Study and Metastroke Consortiumm and T2D-GENES Consortium and Wellcome Trust Case Control Consortium and Understanding Society Scientific Group and EchoGen Consortium and CHD Exome+ Consortium and CHARGE+ Exome Chip Blood Pressure Consortium and CHARGE-Heart Failure Consortium and METASTROKE Consortium and GIANT Consortium
Nature genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1151 - 1161
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Genetic Predisposition to Disease | Genome-Wide Association Study | Blood Pressure - genetics | Humans | Genotype | Hypertension - genetics | Studies | Hypertension | Consortia | Datasets | Genealogy | Quality control | Cardiovascular disease | Blood pressure | Genomes | Meta-analysis | Index Medicus | Kardiologi | Medicinsk genetik | Basic Medicine | Medical Genetics | Clinical Medicine | Cardiac and Cardiovascular Systems | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin
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2. Full Text Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index
by Felix, Janine and Poppelaars-Monnereau, Claire and Valk, Ralf and Stergiakouli, Evie and Chesi, Alessana and Feenstra, Bjarke and Thiering, Elisabeth and Kreiner-Møller, Eskil and Joro, Raimo and Huikari, Ville and Franks, Steve and Groen-Blokhuis, Maria and Cousminer, Diana and Marsh, Julie and Lehtimäki, Terho and Curtin, John and Vioque, Jesus and Price, Thomas and Yengo, Loic and Grarup, Niels and Ntalla, Ioanna and Ang, Wei and Atalay, Mustafa and Bisgaard, Hans and Blakemore, Alexana and Bonnefond, Amélie and Carstensen, Lisbeth and Eriksson, Johan G and Flexeder, Claudia and Franke, Lude and Geller, Frank and Geserick, Mandy and Hartikainen, A.L and Haworth, Claire M and Hirschhorn, Joel N and Hofman, Albert and Holm, Jens-Christian and Huang, Jian and Kadarmideen, Haja N and Kähönen, Mika and Kiess, Wieland and Lakka, Timo and Liang, Liming and Lyytikäinen, Leo-Pekka and Ma, Baoshan and Magnus, Per and McCormack, Shana E and Mcmahon, George and Murray, Clare S and Pahkala, Katja and Pers, Tune and Pfäffle, Roland and Postma, Dirkje and Power, Christine and Simpson, Angela and Sengpiel, Verena and Torrent, Maties and Uitterlinden, Ané and Meurs, Joyce and Vinding, Rebecca and Waage, Johannes and Wardle, Jane and Zeggini, Eleftheria and Zemel, Babette S and Dedoussis, George and Pedersen, Oluf and Froguel, Philippe and Sunyer, Jordi and Plomin, Robert and Jacobsson, Bo and Gonzalez, Juan R and Custovic, Adnan and Raitakari, Olli T and Pennell, Craig and Widén, Elisabeth and Koppelman, Gerard and Sebert, Sylvain and Jarvelin, Marjo-Riitta and Hypponen, Elina and McCarthy, Mark and Lindi, Virpi and Harri, Niinikoski and Körner, Antje and Bønnelykke, Klaus and Heinrich, Joachim and Melbye, Mads and Rivadeneira Ramirez, Fernando and Hakonarson, Hakon and Ring, Susan and Smith, Davey and Sørensen, Thorkild I.A and Timpson, Nicholas and Grant, Struan and Jaddoe, Vincent and Kalkwarf, Heidi J and Lappe, Joan M and Gilsanz, Vicente and Oberfield, Sharon E and Shepherd, John A and Kelly, Anea and Early Growth Genetics EGG and Early Genetics Lifecourse Epidemi and Bone Mineral Density Childhood and Early Genetics and Lifecourse Epidemiology (EAGLE) consortium and Bone Mineral Density in Childhood Study (BMDCS) and Early Growth Genetics (EGG) Consortium and Bone Mineral Density in Childhood Study BMDCS and Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Department of Obstetrics and Gynecology and Sahlgrenska Academy
Human molecular genetics, ISSN 0964-6906, 01/2016, Volume 25, Issue 2, pp. 389 - 403
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Body Mass Index | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Humans | Child, Preschool | Male | Risk | Genetic Loci | Obesity - genetics | Young Adult | Adolescent | Adult | Female | Polymorphism, Single Nucleotide | Child | Index Medicus | Association Studies | Obstetrics, Gynecology and Reproductive Medicine | Reproduktionsmedicin och gynekologi | Clinical Laboratory Medicine | Klinisk laboratoriemedicin
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3. Full Text A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
by de Smith, Adam J and Purmann, Carolin and Walters, Robin G and Ellis, Richard J and Holder, Susan E and Van Haelst, Mieke M and Brady, Angela F and Fairbrother, Una L and Dattani, Mehul and Keogh, Julia M and Henning, Elana and Yeo, Giles S. H and O'Rahilly, Stephen and Froguel, Philippe and Farooqi, I. Sadaf and Blakemore, Alexana I. F
Human molecular genetics, ISSN 0964-6906, 09/2009, Volume 18, Issue 17, pp. 3257 - 3265
RECOMBINATION | GENE | ALU ELEMENTS | CLUSTER | DEFINE | PRADER-WILLI-SYNDROME | DEFICIENCY | BREAKPOINTS | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Obesity | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Chromosomes, Human, Pair 15 - genetics | Hyperphagia - metabolism | Obesity - genetics | RNA, Small Nucleolar - genetics | Obesity - metabolism | Hyperphagia - genetics | Hypogonadism - genetics | Young Adult | RNA, Small Nucleolar - metabolism | Sequence Alignment | Hypogonadism - metabolism | Metabolic rate | Breakpoints | DNA probes | Prader-Willi syndrome | non-coding RNA | Body weight | Chromosome deletion | Fat-free | Hypogonadism | snoRNA | Learning | Polymerase chain reaction | Energy balance | Nucleoli | Reproduction | Genotyping | Food intake | Lymphocytes | Phenotyping | genomics | chromosome 15 | Age | Hyperphagia | Index Medicus
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4. Full Text Common variants at 12q15 and 12q24 are associated with infant head circumference
by Taal, Rob and St Pourcain, Beate and Thiering, Eelisabeth and Das, Shikta and Mook-Kanamori, Dennis and Warrington, Nicole and Kaakinen, Marika and Kreiner-Møller, Eskil and Bradfield, Jonathan and Freathy, Rachel and Geller, Frank and Guxens Junyent, Mònica and Cousminer, Diana and Kerkhof, Marjan and Timpson, Nicholas and Ikram, Arfan and Beilin, Lawrence and Bønnelykke, Klaus and Buxton, Jessica and Charoen, Pimphen and Chawes, Bo Lund Krogsgaard and Eriksson, Johan and Evans, David and Hofman, Albert and Kemp, John and Kim, Cecilia and Klopp, Norman and Lahti, Jari and Lye, Stephen and Mcmahon, George and Mentch, Frank and Müller-Nurasyid, Martina and O'Reilly, Paul and Prokopenko, Inga and Rivadeneira Ramirez, Fernando and Steegers, Eric and Sunyer, Jordi and Tiesler, Carla and Yaghootkar, Hanieh and Breteler, Monique and Debette, Stéphanie and Fornage, Myriam and Gudnason, Vilmunder and Launer, Lenore and Lugt, Aad and Mosley, Thomas and Seshai, Sudha and Smith, Albert V and Vernooij, Meike and Blakemore, Alexana and Chiavacci, Rosetta and Feenstra, Bjarke and Fernandez-Banet, Julio and Grant, Struan and Hartikainen, Anna-Liisa and Heijden, Albert and Iniguez, Carmen and Lathrop, Mark and McArdle, Wendy and Mølgaard, Anne and Newnham, John and Palmer, Lyle and Palotie, Aarno and Pouta, Anneli and Ring, Susan and Sovio, Ulla and Standl, Marie and Uitterlinden, Ané and Wichmann, Erich and Vissing, Nadja and DeCarli, Charles and Duijn, Cornelia and McCarthy, M and Koppelman, Gerard and Estivill, Xavier and Hattersley, Anew and Melbye, Mads and Bisgaard, Hans and Pennell, Craig and Widen, Elisabeth and Hakonarson, Hakon and Davey-Smith, George and Heinrich, Joachim and Jarvelin, Marjo-Riitta and Jaddoe, Vincent and Cohorts Heart Aging Res Genetic Ep and Early Genetics Lifecourse Epidemio and Early Growth Genetics EGG Consorti and Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium and Early Genetics & Lifecourse Epidemiology (EAGLE) consortium and Early Growth Genetics (EGG) Consortium and Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium and The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium
Nature genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 532 - 538
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy Complications - pathology | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Meta-Analysis as Topic | Pregnancy Complications - etiology | Humans | Infant | Male | Head - growth & development | Genetic Loci | Genetic Markers | Head - pathology | Pregnancy | Polymorphism, Single Nucleotide - genetics | Female | Chromosomes, Human, Pair 12 - genetics | Head | Genetic aspects | Genetic variation | Identification and classification | Body size | Confidence intervals | Medical research | Brain | Breastfeeding & lactation | Health services | Prenatal development | Genetics | Epidemiology | Meta-analysis | Index Medicus | Malalties | Creixement | Polimorfisme genètic | Cap | Complicacions | Cromosomes humans | Embaràs
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5. Full Text Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index
by Felix, Janine F and Bradfield, Jonathan P and Monnereau, Claire and van der Valk, Ralf J. P and Stergiakouli, Evie and Chesi, Alessana and Gaillard, Romy and Feenstra, Bjarke and Thiering, Elisabeth and Kreiner-Moller, Eskil and Mahajan, Anubha and Pitkanen, Niina and Joro, Raimo and Cavadino, Alana and Huikari, Ville and Franks, Steve and Groen-Blokhuis, Maria M and Cousminer, Diana L and Marsh, Julie A and Lehtimaki, Terho and Curtin, John A and Vioque, Jesus and Ahluwalia, Tarunveer S and Myhre, Ronny and Price, Thomas S and Vilor-Tejedor, Natalia and Yengo, Loic and Grarup, Niels and Ntalla, Ioanna and Ang, Wei and Atalay, Mustafa and Bisgaard, Hans and Blakemore, Alexana I and Bonnefond, Amelie and Carstensen, Lisbeth and Eriksson, Johan and Flexeder, Claudia and Franke, Lude and Geller, Frank and Geserick, Mandy and Hartikainen, Anna-Liisa and Haworth, Claire M. A and Hirschhorn, Joel N and Hofman, Albert and Holm, Jens-Christian and Horikoshi, Momoko and Hottenga, Jouke Jan and Huang, Jinyan and Postma, Dirkje S and Koppelman, Gerard H
Human molecular genetics, ISSN 0964-6906, 01/2016, Volume 25, Issue 2, pp. 389 - 403
OBESITY | METAANALYSIS | GENE | VARIANTS | ADAM23 | WEIGHT | FAT DISTRIBUTION | EXPRESSION | ENVIRONMENTAL-FACTORS | INSIGHTS
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6. Full Text Chromosome 19p13.3 Deletion in a Patient With Macrocephaly, Obesity, Mental Retardation, and Behavior Problems
by de Smith, Adam J and van Haelst, Mieke M and Ellis, Richard J and Holder, Susan E and Payne, Stewart J and Hashim, Sugera K and Froguel, Philippe and Blakemore, Alexana I. F
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2011, Volume 155A, Issue 5, pp. 1192 - 1195
MICRODELETION SYNDROME | CAYMAN ATAXIA | PROTEIN | MUTATIONS | GENES | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Obesity | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Metabolic diseases | Medical sciences | Chromosome Deletion | Megalencephaly - genetics | Mental Disorders - genetics | Chromosomes, Human, Pair 19 | Comparative Genomic Hybridization | Exons | Humans | Adolescent | Female | Gene Dosage | Obesity - genetics | Intellectual Disability - genetics | Chromosome 19 | Chromosome deletion | Index Medicus
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7. Full Text New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders
by Evangelou, Evangelos and Gao, He and Chu, Congying and Ntritsos, Georgios and Blakeley, Paul and Butts, Anew R and Pazoki, Raha and Suzuki, Hideaki and Koskeridis, Fotios and Yiorkas, Anianos M and Karaman, Ibrahim and Elliott, Joshua and Luo, Qiang and Aeschbacher, Stefanie and Bartz, Traci M and Baumeister, Sebastian E and Braund, Peter S and Brown, Michael R and Brody, Jennifer A and Clarke, Toni-Kim and Dimou, Niki and Faul, Jessica D and Homuth, Georg and Jackson, Anne U and Kentistou, Katherine A and Joshi, Peter K and Lemaitre, Rozenn N and Lind, Penelope A and Lyytikäinen, Leo-Pekka and Mangino, Massimo and Milaneschi, Yuri and Nelson, Christopher P and Nolte, Ilja M and Perälä, Mia-Maria and Polasek, Ozren and Porteous, David and Ratliff, Scott M and Smith, Jennifer A and Stančáková, Alena and Teumer, Alexander and Tuominen, Samuli and Thériault, Sébastien and Vangipurapu, Jagadish and Whitfield, John B and Wood, Alexis and Yao, Jie and Yu, Bing and Zhao, Wei and Arking, Dan E and Auvinen, Juha and Liu, Chunyu and Männikkö, Minna and Risch, Lorenz and Rotter, Jerome I and Snieder, Harold and Veijola, Juha and Blakemore, Alexana I and Boehnke, Michael and Campbell, Harry and Conen, David and Eriksson, Johan G and Grabe, Hans J and Guo, Xiuqing and van der Harst, Pim and Hartman, Catharina A and Hayward, Caroline and Heath, Anew C and Jarvelin, Marjo-Riitta and Kähönen, Mika and Kardia, Sharon L R and Kühne, Michael and Kuusisto, Johanna and Laakso, Markku and Lahti, Jari and Lehtimäki, Terho and McIntosh, Anew M and Mohlke, Karen L and Morrison, Alanna C and Martin, Nicholas G and Oldehinkel, Albertine J and Penninx, Brenda W J H and Psaty, Bruce M and Raitakari, Olli T and Rudan, Igor and Samani, Nilesh J and Scott, Laura J and Spector, Tim D and Verweij, Niek and Weir, David R and Wilson, James F and Levy, Daniel and Tzoulaki, Ioanna and Bell, Jimmy D and Matthews, Paul M and Rothenfluh, Aian and Desrivières, Sylvane and Schumann, Gunter and Elliott, Paul
Nature human behaviour, ISSN 2397-3374, 09/2019, Volume 3, Issue 9, pp. 950 - 961
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8. Full Text Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems
by de Smith, Adam J and van Haelst, Mieke M and Ellis, Richard J and Holder, Susan E and Payne, Stewart J and Hashim, Sugera K and Froguel, Philippe and Blakemore, Alexana I F
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2011, Volume 155A, Issue 5, pp. 1192 - 5
Chromosome Deletion | Intellectual Disability/genetics | Obesity/genetics | Chromosomes, Human, Pair 19 | Comparative Genomic Hybridization | Exons | Humans | Adolescent | Megalencephaly/genetics | Female | Gene Dosage | Mental Disorders/genetics
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9. Full Text New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders
by Evangelou, Evangelos and Gao, He and Chu, Congying and Ntritsos, Georgios and Blakeley, Paul and Butts, Anew R and Pazoki, Raha and Suzuki, Hideaki and Koskeridis, Fotios and Yiorkas, Anianos M and Karaman, Ibrahim and Elliott, Joshua and Luo, Qiang and Aeschbacher, Stefanie and Bartz, Traci M and Baumeister, Sebastian E and Braund, Peter S and Brown, Michael R and Brody, Jennifer A and Clarke, Toni-Kim and Dimou, Niki and Faul, Jessica D and Homuth, Georg and Jackson, Anne U and Kentistou, Katherine A and Joshi, Peter K and Lemaitre, Rozenn N and Lind, Penelope A and Lyytikäinen, Leo-Pekka and Mangino, Massimo and Milaneschi, Yuri and Nelson, Christopher P and Nolte, Ilja M and Perälä, Mia-Maria and Polasek, Ozren and Porteous, David and Ratliff, Scott M and Smith, Jennifer A and Stančáková, Alena and Teumer, Alexander and Tuominen, Samuli and Thériault, S. bastien and Vangipurapu, Jagadish and Whitfield, John B and Wood, Alexis and Yao, Jie and Yu, Bing and Zhao, Wei and Arking, Dan E and Auvinen, Juha and Liu, Chunyu and Männikkö, Minna and Risch, Lorenz and Rotter, Jerome I and Snieder, Harold and Veijola, Juha and Blakemore, Alexana I and Boehnke, Michael and Campbell, Harry and Conen, David and Eriksson, Johan G and Grabe, Hans J and Guo, Xiuqing and van der Harst, Pim and Hartman, Catharina A and Hayward, Caroline and Heath, Anew C and Jarvelin, Marjo-Riitta and Kähönen, Mika and Kardia, Sharon L. R and Kühne, Michael and Kuusisto, Johanna and Laakso, Markku and Lahti, Jari and Lehtimäki, Terho and McIntosh, Anew M and Mohlke, Karen L and Morrison, Alanna C and Martin, Nicholas G and Oldehinkel, Albertine J and Penninx, Brenda W. J. H and Psaty, Bruce M and Raitakari, Olli T and Rudan, Igor and Samani, Nilesh J and Scott, Laura J and Spector, Tim D and Verweij, Niek and Weir, David R and Wilson, James F and Levy, Daniel and Tzoulaki, Ioanna and Bell, Jimmy D and Matthews, Paul M and Rothenfluh, Aian and Desrivières, Sylvane and Schumann, Gunter and Elliott, Paul
Nature human behaviour, ISSN 2397-3374, 09/2019, Volume 3, Issue 9, pp. 950 - 961
Psychology, Biological | Psychology, Experimental | Neurosciences | Social Sciences | Life Sciences & Biomedicine | Psychology | Science & Technology - Other Topics | Multidisciplinary Sciences | Neurosciences & Neurology | Science & Technology | Neuroimaging | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Brain - physiopathology | Humans | Middle Aged | Genes - genetics | Male | Alcohol Drinking - genetics | Magnetic Resonance Imaging | Mental Disorders - genetics | Genes - physiology | Schizophrenia - genetics | Polymorphism, Single Nucleotide - genetics | Adult | Alcoholism - genetics | Female | Aged | Quantitative Trait Loci - genetics | Consumption | Disability | Genes | Alcohol related disorders | Schizophrenia | Aging | Functional magnetic resonance imaging | Genomes | Genetic factors | Gene expression | Epidemiology | Alcohol use | Index Medicus
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10. Full Text A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
by de Smith, Adam J and Purmann, Carolin and Walters, Robin G and Ellis, Richard J and Holder, Susan E and Van Haelst, Mieke M and Brady, Angela F and Fairbrother, Una L and Dattani, Mehul and Keogh, Julia M and Henning, Elana and Yeo, Giles S H and O'Rahilly, Stephen and Froguel, Philippe and Farooqi, I Sadaf and Blakemore, Alexana I F
Human molecular genetics, ISSN 0964-6906, 09/2009, Volume 18, Issue 17, pp. 3257 - 65
Obesity/genetics | Young Adult | Amino Acid Sequence | Hypogonadism/genetics | Sequence Alignment | RNA, Small Nucleolar/genetics | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Hyperphagia/genetics | Chromosomes, Human, Pair 15/genetics
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11. Full Text Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism
by Alsters, Suzanne I M and Goldstone, Anthony P and Buxton, Jessica L and Zekavati, Anna and Sosinsky, Alona and Yiorkas, Anianos M and Holder, Susan and Klaber, Robert E and Bridges, Nicola and van Haelst, Mieke M and le Roux, Carel W and Walley, Anew J and Walters, Robin G and Mueller, Michael and Blakemore, Alexana I F
PloS one, ISSN 1932-6203, 2015, Volume 10, Issue 6, pp. e0131417 - e0131417
Research Support, Non-U.S. Gov't | Journal Article | Case Reports | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Diabetes Mellitus, Type 2 - genetics | Humans | Intellectual Disability - complications | Klinefelter Syndrome - enzymology | Male | RNA, Messenger - metabolism | Intellectual Disability - genetics | Young Adult | Klinefelter Syndrome - genetics | Obesity, Morbid - genetics | DNA Mutational Analysis | Female | Diabetes Mellitus, Type 2 - complications | Klinefelter Syndrome - complications | RNA, Messenger - genetics | Diabetes Mellitus, Type 2 - enzymology | Mutation - genetics | Obesity, Morbid - complications | Gene Expression Regulation, Enzymologic | Homozygote | Exome - genetics | Pedigree | Obesity, Morbid - enzymology | Carboxypeptidase H - metabolism | Carboxypeptidase H - genetics | Type 2 diabetes | Obesity | Glucose metabolism | Enzymes | RNA | Body weight | Genetic aspects | Glucose | Hypogonadism | Dextrose | Brain | Animal models | Peptides | Intellectual disabilities | Genomics | Homeostasis | Neuropeptides | Genomes | Hormones | Homozygosity | Epidemiology | Blood | Consent | Carboxypeptidase A | Genetics | Diabetes mellitus (non-insulin dependent) | Appetite | Diabetes mellitus | Carboxypeptidase E | Metabolism | Gene expression | Ribonucleic acid--RNA | Medicine | Brain research | Hospitals | Mutation | Diabetes | Endocrinology | Index Medicus | Ribonucleic acid
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