Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Silver-Russell Syndrome and IGF2[original query] |
---|
No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PloS one 2009 4 (8): e6631. Bernier-Latmani Jeremiah, Baumer Alessandra, Shaw Phill |
No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age. BMC medical genetics 2014 15 67. Murphy Rinki, Thompson John Md, Tost Jörg, Mitchell Edwin A, |
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers. European journal of human genetics : EJHG 2018 9 27 (1): 42-48. Soellner Lukas, Kraft Florian, Sauer Sabrina, Begemann Matthias, Kurth Ingo, Elbracht Miriam, Eggermann Thom |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet journal of rare diseases 2021 1 16 (1): 42. Meyer Robert, Begemann Matthias, Hübner Christian Thomas, Dey Daniela, Kuechler Alma, Elgizouli Magdeldin, Schara Ulrike, Ambrozaityte Laima, Burnyte Birute, Schröder Carmen, Kenawy Asmaa, Kroisel Peter, Demuth Stephanie, Fekete Gyorgy, Opladen Thomas, Elbracht Miriam, Eggermann Thom |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 28, 2024
- Content source: