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Refinado por: Base de dados/Biblioteca: HighWire Press (Free Journals) remover assunto: Molecular And Cellular Biology remover
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1
The revised Ghent nosology for the Marfan syndrome
The revised Ghent nosology for the Marfan syndrome
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The revised Ghent nosology for the Marfan syndrome

Loeys, Bart L ; Dietz, Harry C ; Braverman, Alan C ; Callewaert, Bert L ; De Backer, Julie ; Devereux, Richard B ; Hilhorst-Hofstee, Yvonne ; Jondeau, Guillaume ; Faivre, Laurence ; Milewicz, Dianna M ; Pyeritz, Reed E ; Sponseller, Paul D ; Wordsworth, Paul ; De Paepe, Anne M

Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Apoptosis and cancer: mutations within caspase genes
Apoptosis and cancer: mutations within caspase genes
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Apoptosis and cancer: mutations within caspase genes

Ghavami, S ; Hashemi, M ; Ande, S R ; Yeganeh, B ; Xiao, W ; Eshraghi, M ; Bus, C J ; Kadkhoda, K ; Wiechec, E ; Halayko, A J ; Los, M

Journal of medical genetics, 2009-08, Vol.46 (8), p.497-510 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

Faughnan, M E ; Palda, V A ; Garcia-Tsao, G ; Geisthoff, U W ; McDonald, J ; Proctor, D D ; Spears, J ; Brown, D H ; Buscarini, E ; Chesnutt, M S ; Cottin, V ; Ganguly, A ; Gossage, J R ; Guttmacher, A E ; Hyland, R H ; Kennedy, S J ; Korzenik, J ; Mager, J J ; Ozanne, A P ; Piccirillo, J F ; Picus, D ; Plauchu, H ; Porteous, M E M ; Pyeritz, R E ; Ross, D A ; Sabba, C ; Swanson, K ; Terry, P ; Wallace, M C ; Westermann, C J J ; White, R I ; Young, L H ; Zarrabeitia, R

Journal of medical genetics, 2011-02, Vol.48 (2), p.73-87 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1
Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1
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Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1

Tahiliani, Mamta ; Koh, Kian Peng ; Shen, Yinghua ; Pastor, William A ; Bandukwala, Hozefa ; Brudno, Yevgeny ; Agarwal, Suneet ; Iyer, Lakshminarayan M ; Liu, David R ; Aravind, L ; Rao, Anjana

Science (American Association for the Advancement of Science), 2009-05, Vol.324 (5929), p.930-935 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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5
High-Density Lipoprotein Function, Dysfunction, and Reverse Cholesterol Transport
High-Density Lipoprotein Function, Dysfunction, and Reverse Cholesterol Transport
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High-Density Lipoprotein Function, Dysfunction, and Reverse Cholesterol Transport

Fisher, Edward A ; Feig, Jonathan E ; Hewing, Bernd ; Hazen, Stanley L ; Smith, Jonathan D

Arteriosclerosis, thrombosis, and vascular biology, 2012-12, Vol.32 (12), p.2813-2820 [Periódico revisado por pares]

Philadelphia, PA: American Heart Association, Inc

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6
What can exome sequencing do for you?
What can exome sequencing do for you?
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What can exome sequencing do for you?

Majewski, Jacek ; Schwartzentruber, Jeremy ; Lalonde, Emilie ; Montpetit, Alexandre ; Jabado, Nada

Journal of Medical Genetics, 2011-09, Vol.48 (9), p.580-589 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma
Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma
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Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma

Singh, Devendra ; Chan, Joseph Minhow ; Zoppoli, Pietro ; Niola, Francesco ; Sullivan, Ryan ; Castano, Angelica ; Liu, Eric Minwei ; Reichel, Jonathan ; Porrati, Paola ; Pellegatta, Serena ; Qiu, Kunlong ; Gao, Zhibo ; Ceccarelli, Michele ; Riccardi, Riccardo ; Brat, Daniel J. ; Guha, Abhijit ; Aldape, Ken ; Golfinos, John G. ; Zagzag, David ; Mikkelsen, Tom ; Finocchiaro, Gaetano ; Lasorella, Anna ; Rabadan, Raul ; Iavarone, Antonio

Science (American Association for the Advancement of Science), 2012-09, Vol.337 (6099), p.1231-1235 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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8
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function
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MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

Miñones-Moyano, Elena ; Porta, Sílvia ; Escaramís, Georgia ; Rabionet, Raquel ; Iraola, Susana ; Kagerbauer, Birgit ; Espinosa-Parrilla, Yolanda ; Ferrer, Isidre ; Estivill, Xavier ; Martí, Eulàlia

Human molecular genetics, 2011-08, Vol.20 (15), p.3067-3078 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease
Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease
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Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease

Calkins, Marcus J ; Manczak, Maria ; Mao, Peizhong ; Shirendeb, Ulziibat ; Reddy, P. Hemachandra

Human molecular genetics, 2011-12, Vol.20 (23), p.4515-4529 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
wANNOVAR: annotating genetic variants for personal genomes via the web
wANNOVAR: annotating genetic variants for personal genomes via the web
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wANNOVAR: annotating genetic variants for personal genomes via the web

Chang, Xiao ; Wang, Kai

Journal of medical genetics, 2012-07, Vol.49 (7), p.433-436 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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