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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 12, 2024. (Total: 234319Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Hernia and Nr2f2[original query]
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
Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
American journal of surgery 2021 7 223 (1): 182-186.
Schwab Marisa E, Dong Shan, Lianoglou Billie R, Aguilar Lucero Alessandra F, Schwartz Grace B, Norton Mary E, MacKenzie Tippi C, Sanders Stephan
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