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Refinado por: Nome da Publicação: Human Molecular Genetics remover
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1
Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia
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Artigo
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Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia

Malik, Manasi ; Chiles, 3rd, Joe ; Xi, Hualin S ; Medway, Christopher ; Simpson, James ; Potluri, Shobha ; Howard, Dianna ; Liang, Ying ; Paumi, Christian M ; Mukherjee, Shubhabrata ; Crane, Paul ; Younkin, Steven ; Fardo, David W ; Estus, Steven

Human molecular genetics, 2015-06, Vol.24 (12), p.3557-3570 [Periódico revisado por pares]

England: Oxford University Press

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2
Methylome-wide association study of early life stressors and adult mental health
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Methylome-wide association study of early life stressors and adult mental health

Howard, David M ; Pain, Oliver ; Arathimos, Ryan ; Barbu, Miruna C ; Amador, Carmen ; Walker, Rosie M ; Jermy, Bradley ; Adams, Mark J ; Deary, Ian J ; Porteous, David ; Campbell, Archie ; Sullivan, Patrick F ; Evans, Kathryn L ; Arseneault, Louise ; Wray, Naomi R ; Meaney, Michael ; McIntosh, Andrew M ; Lewis, Cathryn M

Human molecular genetics, 2022-02, Vol.31 (4), p.651-664 [Periódico revisado por pares]

England: Oxford University Press

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3
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
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A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

Samaco, Rodney C. ; Fryer, John D. ; Ren, Jun ; Fyffe, Sharyl ; Chao, Hsiao-Tuan ; Sun, Yaling ; Greer, John J. ; Zoghbi, Huda Y. ; Neul, Jeffrey L.

Human molecular genetics, 2008-06, Vol.17 (12), p.1718-1727 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Liu, Ning ; Schoch, Kelly ; Luo, Xi ; Pena, Loren D M ; Bhavana, Venkata Hemanjani ; Kukolich, Mary K ; Stringer, Sarah ; Powis, Zöe ; Radtke, Kelly ; Mroske, Cameron ; Deak, Kristen L ; McDonald, Marie T ; McConkie-Rosell, Allyn ; Markert, M Louise ; Kranz, Peter G ; Stong, Nicholas ; Need, Anna C ; Bick, David ; Amaral, Michelle D ; Worthey, Elizabeth A ; Levy, Shawn ; Wangler, Michael F ; Bellen, Hugo J ; Shashi, Vandana ; Yamamoto, Shinya

Human molecular genetics, 2018-07, Vol.27 (14), p.2454-2465 [Periódico revisado por pares]

England: Oxford University Press

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5
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
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Artigo
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Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

Wang, Jen C. ; Hinrichs, Anthony L. ; Stock, Heather ; Budde, John ; Allen, Rebecca ; Bertelsen, Sarah ; Kwon, Jennifer M. ; Wu, William ; Dick, Danielle M. ; Rice, John ; Jones, Kevin ; Nurnberger, John I. ; Tischfield, Jay ; Porjesz, Bernice ; Edenberg, Howard J. ; Hesselbrock, Victor ; Crowe, Ray ; Schuckit, Mark ; Begleiter, Henri ; Reich, Theodore ; Goate, Alison M. ; Bierut, Laura J.

Human molecular genetics, 2004-09, Vol.13 (17), p.1903-1911 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome
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Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome

McElyea, Samantha D ; Starbuck, John M ; Tumbleson-Brink, Danika M ; Harrington, Emily ; Blazek, Joshua D ; Ghoneima, Ahmed ; Kula, Katherine ; Roper, Randall J

Human molecular genetics, 2016-11, Vol.25 (22), p.4856-4869 [Periódico revisado por pares]

England: Oxford University Press

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7
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Korvatska, Olena ; Strand, Nicholas S ; Berndt, Jason D ; Strovas, Tim ; Chen, Dong-Hui ; Leverenz, James B ; Kiianitsa, Konstantin ; Mata, Ignacio F ; Karakoc, Emre ; Greenup, J Lynne ; Bonkowski, Emily ; Chuang, Joseph ; Moon, Randall T ; Eichler, Evan E ; Nickerson, Deborah A ; Zabetian, Cyrus P ; Kraemer, Brian C ; Bird, Thomas D ; Raskind, Wendy H

Human molecular genetics, 2013-08, Vol.22 (16), p.3259-3268 [Periódico revisado por pares]

England: Oxford University Press

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8
Results of a high-resolution genome screen of 437 Alzheimer's Disease families
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Results of a high-resolution genome screen of 437 Alzheimer's Disease families

Blacker, Deborah ; Bertram, Lars ; Saunders, Aleister J. ; Moscarillo, Thomas J. ; Albert, Marilyn S. ; Wiener, Howard ; Perry, Rodney T. ; Collins, Julianne S. ; Harrell, Lindy E. ; Go, Rodney C.P. ; Mahoney, Amy ; Beaty, Terri ; Fallin, M. Danielle ; Avramopoulos, Dimitrios ; Chase, Gary A. ; Folstein, Marshal F. ; McInnis, Melvin G. ; Bassett, Susan S. ; Doheny, Kimberly J. ; Pugh, Elizabeth W. ; Tanzi, Rudolph E.

Human molecular genetics, 2003-01, Vol.12 (1), p.23-32 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis
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Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis

Edenberg, Howard J. ; Xuei, Xiaoling ; Chen, Hui-Ju ; Tian, Huijun ; Wetherill, Leah Flury ; Dick, Danielle M. ; Almasy, Laura ; Bierut, Laura ; Bucholz, Kathleen K. ; Goate, Alison ; Hesselbrock, Victor ; Kuperman, Samuel ; Nurnberger, John ; Porjesz, Bernice ; Rice, John ; Schuckit, Marc ; Tischfield, Jay ; Begleiter, Henri ; Foroud, Tatiana

Human molecular genetics, 2006-05, Vol.15 (9), p.1539-1549 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Godler, David E ; Inaba, Yoshimi ; Shi, Elva Z ; Skinner, Cindy ; Bui, Quang M ; Francis, David ; Amor, David J ; Hopper, John L ; Loesch, Danuta Z ; Hagerman, Randi J ; Schwartz, Charles E ; Slater, Howard R

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524 [Periódico revisado por pares]

England: Oxford University Press

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