HuGE Literature Finder
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| Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. Journal of human genetics 2022 5 67 (10): 607-611. Fuke Tomoko, Nakamura Akie, Inoue Takanobu, Kawashima Sayaka, Hara-Isono Kaori, Matsubara Keiko, Sano Shinichiro, Yamazawa Kazuki, Fukami Maki, Ogata Tsutomu, Kagami Masa |
| Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes 2021 4 12 (4): . Tannorella Pierpaola, Minervino Daniele, Guzzetti Sara, Vimercati Alessandro, Calzari Luciano, Patti Giuseppa, Maghnie Mohamad, Allegri Anna Elsa Maria, Milani Donatella, Scuvera Giulietta, Mariani Milena, Modena Piergiorgio, Selicorni Angelo, Larizza Lidia, Russo Silv |
| 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 |
| 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 |
| Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. The Journal of clinical endocrinology and metabolism 2020 11 106 (3): 802-813. Fuke Tomoko, Nakamura Akie, Inoue Takanobu, Kawashima Sayaka, Hara Kaori Isono, Matsubara Keiko, Sano Shinichiro, Yamazawa Kazuki, Fukami Maki, Ogata Tsutomu, Kagami Masa |
| Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. Science China. Life sciences 2017 6 60 (7): 692-699. Wu Di, Gong Chunxiu, Su Cha |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clinical epigenetics 2016 3 8 23. Russo Silvia, Calzari Luciano, Mussa Alessandro, Mainini Ester, Cassina Matteo, Di Candia Stefania, Clementi Maurizio, Guzzetti Sara, Tabano Silvia, Miozzo Monica, Sirchia Silvia, Finelli Palma, Prontera Paolo, Maitz Silvia, Sorge Giovanni, Calcagno Annalisa, Maghnie Mohamad, Divizia Maria Teresa, Melis Daniela, Manfredini Emanuela, Ferrero Giovanni Battista, Pecile Vanna, Larizza Lid |
| 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 |
| Copy number variations alter methylation and parallel IGF2 overexpression in adrenal tumors. Endocrine-related cancer 2015 9 22 (6): 953-67. Nielsen Helene Myrtue, How-Kit Alexandre, Guerin Carole, Castinetti Frederic, Vollan Hans Kristian Moen, De Micco Catherine, Daunay Antoine, Taieb David, Van Loo Peter, Besse Celine, Kristensen Vessela N, Hansen Lise Lotte, Barlier Anne, Sebag Frederic, Tost Jö |
| Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. Genetics and molecular biology 2012 12 35 (4): 714-24. Cardoso Leila C A, Tenorio Castaño Jair A, Pereira Hanna S, Lima Maria Angélica de F D, Dos Santos Anna Cláudia E, de Faria Paulo S, Ferman Sima, Seuánez Héctor N, Nevado Julián B, de Almeida José Carlos Cabral, Lapunzina Pablo, Vargas Fernando |
| The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia. Pathology 2012 7 44 (6): 519-27. Armes Jane E, McGown Ivan, Williams Mark, Broomfield Amy, Gough Karen, Lehane Fiona, Lourie Roh |
| Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction. Epigenetics 2010 4 5 (4): 313-24. Tabano Silvia, Colapietro Patrizia, Cetin Irene, Grati Francesca R, Zanutto Susanna, Mandò Chiara, Antonazzo Patrizio, Pileri Paola, Rossella Franca, Larizza Lidia, Sirchia Silvia M, Miozzo Moni |
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- Page last updated:Mar 29, 2023
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