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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 6, 2023. (Total: 223792Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Silver-Russell Syndrome and HMGA2[original query]
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
Journal of human genetics 2015 Jun 60 (6): 287-93.
De Crescenzo Agostina, Citro Valentina, Freschi Andrea, Sparago Angela, Palumbo Orazio, Cubellis Maria Vittoria, Carella Massimo, Castelluccio Pia, Cavaliere Maria Luigia, Cerrato Flavia, Riccio Andr
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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