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Refinado por: assunto: Adult remover assunto: Genetics remover
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1
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels
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DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels

Pfeiffer, Liliane ; Wahl, Simone ; Pilling, Luke C ; Reischl, Eva ; Sandling, Johanna K ; Kunze, Sonja ; Holdt, Lesca M ; Kretschmer, Anja ; Schramm, Katharina ; Adamski, Jerzy ; Klopp, Norman ; Illig, Thomas ; Hedman, Åsa K ; Roden, Michael ; Hernandez, Dena G ; Singleton, Andrew B ; Thasler, Wolfgang E ; Grallert, Harald ; Gieger, Christian ; Herder, Christian ; Teupser, Daniel ; Meisinger, Christa ; Spector, Timothy D ; Kronenberg, Florian ; Prokisch, Holger ; Melzer, David ; Peters, Annette ; Deloukas, Panos ; Ferrucci, Luigi ; Waldenberger, Melanie

Circulation. Cardiovascular genetics, 2015-04, Vol.8 (2), p.334-342 [Periódico revisado por pares]

United States: American Heart Association, Inc

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2
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Hammer, Monia B. ; Eleuch-Fayache, Ghada ; Schottlaender, Lucia V. ; Nehdi, Houda ; Gibbs, J. Raphael ; Arepalli, Sampath K. ; Chong, Sean B. ; Hernandez, Dena G. ; Sailer, Anna ; Liu, Guoxiang ; Mistry, Pramod K. ; Cai, Huaibin ; Shrader, Ginamarie ; Sassi, Celeste ; Bouhlal, Yosr ; Houlden, Henry ; Hentati, Fayçal ; Amouri, Rim ; Singleton, Andrew B.

American journal of human genetics, 2013-02, Vol.92 (2), p.245-251 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation
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Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

Wood, Andrew R ; Perry, John R B ; Tanaka, Toshiko ; Hernandez, Dena G ; Zheng, Hou-Feng ; Melzer, David ; Gibbs, J Raphael ; Nalls, Michael A ; Weedon, Michael N ; Spector, Tim D ; Richards, J Brent ; Bandinelli, Stefania ; Ferrucci, Luigi ; Singleton, Andrew B ; Frayling, Timothy M Arking, Dan E.

PloS one, 2013-05, Vol.8 (5), p.e64343-e64343 [Periódico revisado por pares]

United States: Public Library of Science

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4
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Genetic model of MS severity predicts future accumulation of disability
Genetic model of MS severity predicts future accumulation of disability
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Genetic model of MS severity predicts future accumulation of disability

Jackson, Kayla C. ; Sun, Katherine ; Barbour, Christopher ; Hernandez, Dena ; Kosa, Peter ; Tanigawa, Makoto ; Weideman, Ann Marie ; Bielekova, Bibiana

Annals of human genetics, 2020-01, Vol.84 (1), p.1-10 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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6
Genome-wide association study confirms extant PD risk loci among the Dutch
Genome-wide association study confirms extant PD risk loci among the Dutch
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Genome-wide association study confirms extant PD risk loci among the Dutch

SIMON-SANCHEZ, Javier ; VAN HILTEN, Jacobus J ; BLOEM, Bas ; VAN DIJK, Karin D ; RIVADENEIRA, Fernando ; HOFMAN, Albert ; UITTERLINDEN, André G ; RIZZU, Patrizia ; BOCHDANOVITS, Zoltan ; SINGLETON, Andrew B ; HEUTINK, Peter ; VAN DE WARRENBURG, Bart ; POST, Bart ; BERENDSE, Henk W ; AREPALLI, Sampath ; HERNANDEZ, Dena G ; DE BIE, Rob Ma ; VELSEBOER, Daan ; SCHEFFER, Hans

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.655-661 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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7
Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants
Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants
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Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants

Dashti, Hassan S ; Follis, Jack L ; Smith, Caren E ; Tanaka, Toshiko ; Cade, Brian E ; Gottlieb, Daniel J ; Hruby, Adela ; Jacques, Paul F ; Lamon-Fava, Stefania ; Richardson, Kris ; Saxena, Richa ; Scheer, Frank AJL ; Kovanen, Leena ; Bartz, Traci M ; Perälä, Mia-Maria ; Jonsson, Anna ; Frazier-Wood, Alexis C ; Kalafati, Ioanna-Panagiota ; Mikkilä, Vera ; Partonen, Timo ; Lemaitre, Rozenn N ; Lahti, Jari ; Hernandez, Dena G ; Toft, Ulla ; Johnson, W Craig ; Kanoni, Stavroula ; Raitakari, Olli T ; Perola, Markus ; Psaty, Bruce M ; Ferrucci, Luigi ; Grarup, Niels ; Highland, Heather M ; Rallidis, Loukianos ; Kähönen, Mika ; Havulinna, Aki S ; Siscovick, David S ; Räikkönen, Katri ; Jørgensen, Torben ; Rotter, Jerome I ; Deloukas, Panos ; Viikari, Jorma SA ; Mozaffarian, Dariush ; Linneberg, Allan ; Seppälä, Ilkka ; Hansen, Torben ; Salomaa, Veikko ; Gharib, Sina A ; Eriksson, Johan G ; Bandinelli, Stefania ; Pedersen, Oluf ; Rich, Stephen S ; Dedoussis, George ; Lehtimäki, Terho ; Ordovás, José M

The American journal of clinical nutrition, 2015, Vol.101 (1), p.135-143 [Periódico revisado por pares]

United States: American Society for Clinical Nutrition

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8
Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes
Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes
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Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes

Yuan, Xin ; Waterworth, Dawn ; Perry, John R.B. ; Lim, Noha ; Song, Kijoung ; Chambers, John C. ; Zhang, Weihua ; Vollenweider, Peter ; Stirnadel, Heide ; Johnson, Toby ; Bergmann, Sven ; Beckmann, Noam D. ; Li, Yun ; Ferrucci, Luigi ; Melzer, David ; Hernandez, Dena ; Singleton, Andrew ; Scott, James ; Elliott, Paul ; Waeber, Gerard ; Cardon, Lon ; Frayling, Timothy M. ; Kooner, Jaspal S. ; Mooser, Vincent

American journal of human genetics, 2008-10, Vol.83 (4), p.520-528 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

PICHLER, Irene ; MINELLI, Cosetta ; MASCHIO, Andrea ; MELVILLE, Scott A ; GRAZIA PIRAS, Maria ; LONGO, Dan L ; GURALNIK, Jack ; HERNANDEZ, Dena ; BANDINELLI, Stefania ; AIGNER, Elmar ; MURPHY, Anthony T ; WROBLEWSKI, Victor ; SANNA, Serena ; MARRONI, Fabio ; THEURL, Igor ; GNEWUCH, Carsten ; SCHADT, Eric ; MITTERER, Manfred ; SCHLESSINGER, David ; FERRUCCI, Luigi ; WITCHER, Derrick R ; HICKS, Andrew A ; WEISS, Günter ; TANAKA, Toshiko ; UDA, Manuela ; PRAMSTALLER, Peter P ; SCHWIENBACHER, Christine ; NAITZA, Silvia ; PORCU, Eleonora ; PATTARO, Cristian ; BUSONERO, Fabio ; ZANON, Alessandra

Human molecular genetics, 2011-03, Vol.20 (6), p.1232-1240 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Lesage, Suzanne ; Deramecourt, Vincent ; Jacoupy, Maxime ; Hassoun, Sidi Mohamed ; Pujol, Claire ; Maurage, Claude-Alain ; Sahbatou, Mourad ; Liebau, Stefan ; Bilgic, Basar ; Emre, Murat ; Erginel-Unaltuna, Nihan ; Guven, Gamze ; Tison, François ; Tranchant, Christine ; Corvol, Jean-Christophe ; Krack, Paul ; Hernandez, Dena G. ; Gibbs, J. Raphael ; Hardy, John ; Wood, Nicholas W. ; Durr, Alexandra ; Deleuze, Jean-François ; Tazir, Meriem ; Destée, Alain ; Lohmann, Ebba ; Corti, Olga ; Brice, Alexis ; Lesage, Suzanne ; Tison, François ; Vidailhet, Marie ; Corvol, Jean-Christophe ; Agid, Yves ; Anheim, Mathieu ; Bonnet, Anne-Marie ; Borg, Michel ; Broussolle, Emmanuel ; Durif, Franck ; Krack, Paul ; Klebe, Stephan ; Lohmann, Ebba ; Vérin, Marc ; Viallet, François ; Brice, Alexis ; Majounie, Elisa ; Corvol, Jean Christophe ; Ben-Shlomo, Yoav ; Berg, Daniela ; Bhatia, Kailash ; Bochdanovits, Zoltan ; Bonin, Michael ; Bras, Jose M. ; Brockmann, Kathrin ; Burn, David J. ; Chen, Honglei ; Clarke, Carl E. ; Cookson, Mark R. ; Counsell, Carl ; van Dijk, Karin D. ; Dong, Jing ; Escott-Price, Valentina ; Evans, Jonathan R. ; Gray, Emma ; Guerreiro, Rita ; van Hilten, Jacobus J. ; Hollenbeck, Albert ; Holmans, Peter ; Hu, Michèle ; Hudson, Gavin ; Hunt, Sarah E. ; Kilarski, Laura L. ; Jansen, Iris E. ; Langford, Cordelia ; Lees, Andrew ; Lorenz, Delia ; Lubbe, Steven ; Lungu, Codrin ; Martinez, María ; Mätzler, Walter ; McNeill, Alisdair ; Moorby, Catriona ; O’Sullivan, Sean S. ; Pearson, Justin ; Ravina, Bernard ; Rivadeneira, Fernando ; Ryten, Mina ; Schapira, Anthony ; Sharma, Manu ; Sheerin, Una-Marie ; Sidransky, Ellen ; Spencer, Chris C.A. ; Stefánsson, Kári ; Strange, Amy ; Talbot, Kevin ; Trabzuni, Daniah ; Uitterlinden, André G. ; van de Warrenburg, Bart ; Williams-Gray, Caroline H. ; Winder-Rhodes, Sophie ; Hardy, John ; Wood, Nicholas W.

American journal of human genetics, 2016-03, Vol.98 (3), p.500-513 [Periódico revisado por pares]

United States: Elsevier Inc

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