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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2024. (Total: 234130Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Uniparental Disomy and IGF2[original query]
A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.
British journal of cancer 2015 Mar 112 (6): 1121-33.
Kaneko Y, Okita H, Haruta M, Arai Y, Oue T, Tanaka Y, Horie H, Hinotsu S, Koshinaga T, Yoneda A, Ohtsuka Y, Taguchi T, Fukuzawa
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
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