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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and NR2F2[original query]
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Genome medicine 2017 Oct 9 (1): 95.
Li Alexander H, Hanchard Neil A, Furthner Dieter, Fernbach Susan, Azamian Mahshid, Nicosia Annarita, Rosenfeld Jill, Muzny Donna, D'Alessandro Lisa C A, Morris Shaine, Jhangiani Shalini, Parekh Dhaval R, Franklin Wayne J, Lewin Mark, Towbin Jeffrey A, Penny Daniel J, Fraser Charles D, Martin James F, Eng Christine, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Belmont John
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Prenatal diagnosis 2018 Jul .
Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
Birth defects research 2018 3 110 (7): 610-617.
Matsunami Nori, Shanmugam Hari, Baird Lisa, Stevens Jeff, Byrne Janice L, Barnhart Douglas C, Rau Carrie, Feldkamp Marcia L, Yoder Bradley A, Leppert Mark F, Yost H Joseph, Brunelli Lu
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
American journal of human genetics 2018 2 102 (3): 487-493.
Bashamboo Anu, Eozenou Caroline, Jorgensen Anne, Bignon-Topalovic Joelle, Siffroi Jean-Pierre, Hyon Capucine, Tar Attila, Nagy Péter, Sólyom Janos, Halász Zita, Paye-Jaouen Annnabel, Lambert Sophie, Rodriguez-Buritica David, Bertalan Rita, Martinerie Laetitia, Rajpert-De Meyts Ewa, Achermann John C, McElreavey K
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. GWAS Catalog
The European respiratory journal 2019 Apr .
Kim Wonji, Giannikou Krinio, Dreier John R, Lee Sanghun, Tyburczy Magdalena E, Silverman Edwin K, Radzikowska El?bieta, Wu Shulin, Wu Chin-Lee, Henske Elizabeth P, Hunninghake Gary, Carel Havi, Roman Antonio, Pujana Miquel Angel, Moss Joel, Won Sungho, Kwiatkowski David
Obesity-Dependent Association of the rs10454142 PPP1R21 with Breast Cancer.
Biomedicines 2024 4 12 (4): .
Irina Ponomarenko, Konstantin Pasenov, Maria Churnosova, Inna Sorokina, Inna Aristova, Vladimir Churnosov, Marina Ponomarenko, Yuliya Reshetnikova, Evgeny Reshetnikov, Mikhail Churnos
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