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Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset
Schierding, William, Farrow, Sophie, Fadason, Tayaza, Graham, Oscar E.E., Pitcher, Toni L., Qubisi, Sara, Davidson, Alan J., Perry, Jo K., Anderson, Tim J., Kennedy, Martin A., Cooper, Antony, O'Sullivan, Justin M.
Published in Movement disorders (01.08.2020)
Published in Movement disorders (01.08.2020)
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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
Guo, Tingwei, Chung, Jonathan H., Wang, Tao, McDonald-McGinn, Donna M., Kates, Wendy R., Hawuła, Wanda, Coleman, Karlene, Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis
Magalhães, Milena, Rivals, Isabelle, Claustres, Mireille, Varilh, Jessica, Thomasset, Mélodie, Bergougnoux, Anne, Mely, Laurent, Leroy, Sylvie, Corvol, Harriet, Guillot, Loïc, Murris, Marlène, Beyne, Emmanuelle, Caimmi, Davide, Vachier, Isabelle, Chiron, Raphaël, De Sario, Albertina
Published in Clinical epigenetics (14.02.2017)
Published in Clinical epigenetics (14.02.2017)
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Polymorphisms of small ubiquitin-related modifier genes are associated with risk of Alzheimer's disease in Korean: A case-control study
Mun, Myung-Jin, Kim, Jin-Ho, Choi, Ji-Young, Kim, Min-Seon, Jang, Won-Cheoul, Lee, Jung Jae, Eun, Young Lee, Kwak, Shang-June, Kim, Ki Woong, Lee, Seok Bum
Published in Journal of the neurological sciences (15.05.2016)
Published in Journal of the neurological sciences (15.05.2016)
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Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis
Khabou, Boudour, Guirat, Manel, Hsairi, Manel, Gargouri, Lamia, Charfi, Slim, Kacem, Mohamed Hadj, Boudawara, Tahia, Kammoun, Hassen, Fakhfakh, Faiza, Kacem, Hassen Hadj
Published in Clinica chimica acta (01.01.2026)
Published in Clinica chimica acta (01.01.2026)
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Analysis of variation in expression of autosomal dominant osteopetrosis type 2: Searching for modifier genes
Chu, Kang, Koller, Daniel L., Snyder, Richard, Fishburn, Tonya, Lai, Dongbing, Waguespack, Steven G., Foroud, Tatiana, Econs, Michael J.
Published in Bone (New York, N.Y.) (01.11.2005)
Published in Bone (New York, N.Y.) (01.11.2005)
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DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis
Magalhães, Milena, Rivals, Isabelle, Claustres, Mireille, Varilh, Jessica, Thomasset, Mélodie, Bergougnoux, Anne, Mely, Laurent, Leroy, Sylvie, Corvol, Harriet, Guillot, Loïc, Murris, Marlène, Beyne, Emmanuelle, Caimmi, Davide, Vachier, Isabelle, Chiron, Raphaël, de Sario, Albertina
Published in Clinical epigenetics (01.12.2016)
Published in Clinical epigenetics (01.12.2016)
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Polymorphisms of small ubiquitin-related modifier genes are associated with risk of Alzheimer ' s disease in Korean: A case-control study
Mun, Myung-Jin, Kim, Jin-Ho, Choi, Ji-Young, Kim, Min-Seon, Jang, Won-Cheoul, Lee, Jung Jae, Eun, Young Lee, Kwak, Shang-June, Kim, Ki Woong, Lee, Seok Bum
Published in Journal of the neurological sciences (2015)
Published in Journal of the neurological sciences (2015)
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Detection of Phenotype Modifier Genes Using Two-Locus Linkage Analysis in Complex Disorders Such as Major Psychosis
Bureau, Alexandre, Croteau, Jordie, Mérette, Chantal, Fournier, Alain, Chagnon, Yvon C., Roy, Marc-André, Maziade, Michel
Published in Human heredity (01.01.2012)
Published in Human heredity (01.01.2012)
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Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension
Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.
Published in Human mutation (01.02.2006)
Published in Human mutation (01.02.2006)
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Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy
Karasu, Nilgun, Acer, Hamit, Akalin, Hilal, Turkgenc, Burcu, Demir, Mikail, Sahin, Izem Olcay, Gokce, Nuriye, Gulec, Ayten, Ciplakligil, Asli, Sarilar, Ayse Caglar, Cuce, Isa, Gumus, Hakan, Per, Huseyin, Canpolat, Mehmet, Dundar, Munis
Published in Journal of neurogenetics (01.09.2024)
Published in Journal of neurogenetics (01.09.2024)
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ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies
Kumar, Amit, Rani, Bindu, Sharma, Rajni, Kaur, Gurjeet, Prasad, Rishikesh, Bahl, Ajay, Khullar, Madhu
Published in Molecular and cellular biochemistry (01.01.2018)
Published in Molecular and cellular biochemistry (01.01.2018)
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Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis
Palu, Rebecca A S, Ong, Elaine, Stevens, Kaitlyn, Chung, Shani, Owings, Katie G, Goodman, Alan G, Chow, Clement Y
Published in G3 : genes - genomes - genetics (01.12.2019)
Published in G3 : genes - genomes - genetics (01.12.2019)
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Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity
Choquet, H3l2ne, Pawlikowska, Ludmila, Nelson, Jeffrey, McCulloch, Charles E., Akers, Amy, Baca, Beth, Khan, Yasir, Hart, Blaine, Morrison, Leslie, Kim, Helen
Published in Cerebrovascular diseases (Basel, Switzerland) (01.01.2014)
Published in Cerebrovascular diseases (Basel, Switzerland) (01.01.2014)
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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2
Almaguer-Mederos, Luis E., Almaguer-Gotay, Dennis, Aguilera-Rodríguez, Raúl, González-Zaldívar, Yanetza, Cuello-Almarales, Dany, Laffita-Mesa, José, Vázquez-Mojena, Yaimé, Zayas-Feria, Pedro, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis, MacLeod, Patrick
Published in Journal of the neurological sciences (15.01.2017)
Published in Journal of the neurological sciences (15.01.2017)
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