Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: NR2F1[original query] |
---|
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human genetics 2015 Jun 134 (6): 649-58. Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shig |
Genome-wide meta-analysis of SNP-by9-ACEI/ARB and SNP-by-thiazide diuretic and effect on serum potassium in cohorts of European and African ancestry. The pharmacogenomics journal 2018 Jun . Irvin Marguerite R, Sitlani Colleen M, Noordam Raymond, Avery Christie L, Bis Joshua C, Floyd James S, Li Jin, Limdi Nita A, Srinivasasainagendra Vinodh, Stewart James, de Mutsert Renée, Mook-Kanamori Dennis O, Lipovich Leonard, Kleinbrink Erica L, Smith Albert, Bartz Traci M, Whitsel Eric A, Uitterlinden Andre G, Wiggins Kerri L, Wilson James G, Zhi Degui, Stricker Bruno H, Rotter Jerome I, Arnett Donna K, Psaty Bruce M, Lange Leslie |
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Ophthalmic genetics 2019 8 40 (4): 359-361. Park Sung Eun, Lee Jihei Sara, Lee Seung-Tae, Kim Hye Young, Han Sueng-Han, Han Ji |
Predicted regulatory SNPs reveal potential drug targets and novel companion diagnostics in psoriasis. Journal of translational autoimmunity 2021 4 100096. Ruiz Ramírez Andrea Virginia, Flores-Saiffe Farías Adolfo, Chávez Álvarez Rocío Del Carmen, Prado Montes de Oca Ernes |
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy. Frontiers in neurology 2022 9 13 978532. Seo Yuri, Kim Tae Young, Won Dongju, Shin Saeam, Choi Jong Rak, Lee Seung-Tae, Lee Byung Joo, Lim Hyun Taek, Han Sueng-Han, Han Ji |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023 11 . Yan Liang, Lin Wan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Ya |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: