Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Denys-Drash Syndrome and WT1[original query] |
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| Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. American journal of medical genetics. Part A 2004 Jun 127A (3): 249-57. Royer-Pokora Brigitte, Beier Manfred, Henzler Markus, Alam Rita, Schumacher Valérie, Weirich Angela, Huff Vic |
| WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities. Journal of pediatric hematology/oncology 2005 Apr 27 (4): 197-201. Perotti Daniela, Mondini Patrizia, Terenziani Monica, Spreafico Filippo, Collini Paola, Fossati-Bellani Franca, Radice Pao |
| WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatric nephrology (Berlin, Germany) 2006 Oct 21 (10): 1393-8. Aucella Filippo, Bisceglia Luigi, De Bonis Patrizia, Gigante Maddalena, Caridi Gianluca, Barbano Giancarlo, Mattioli Gerolamo, Perfumo Francesco, Gesualdo Loreto, Ghiggeri Gian Mar |
| Gonadal Function in 15 Patients Associated with WT1 Gene Mutations. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 5 15 (4): 143-9. Maesaka Akiko, Higuchi Asako, Kotoh Shinobu, Hasegawa Yukihiro, Ikeda Masahiro, Shishido Seiichirou, Honda Masata |
| Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Clinical and experimental nephrology 2019 4 23 (8): 1058-1065. Nishi Kentaro, Inoguchi Tomohiro, Kamei Koichi, Hamada Riku, Hataya Hiroshi, Ogura Masao, Sato Mai, Yoshioka Takako, Ogata Kentaro, Ito Shuichi, Nakanishi Koichi, Nozu Kandai, Hamasaki Yuko, Ishikura Ken |
| Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome. The Tohoku journal of experimental medicine 2020 9 252 (1): 45-51. Nishi Kentaro, Kamei Koichi, Ogura Masao, Sato Mai, Murakoshi Miki, Kamae Chikako, Suzuki Ryutaro, Kanamori Toru, Nagano China, Nozu Kandai, Ishikura Kenji, Ito Shuic |
| WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021 8 16 (1): 46-54. Ferrari Maria T M, Watanabe Andreia, da Silva Thatiane E, Gomes Nathalia L, Batista Rafael L, Nishi Mirian Y, de Paula Leila C P, Costa Eduardo C, Costa Elaine M F, Cukier Priscilla, Onuchic Luiz F, Mendonca Berenice B, Domenice Sorah |
| New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report. Medicine 2021 6 100 (19): e25864. Akramov Nail R, Shavaliev Rafael F, Osipova Ilsiya |
| A novel WT1 gene mutation in a chinese girl with denys-drash syndrome. Journal of clinical laboratory analysis 2021 5 35 (5): e23769. Wang Faliang, Cai Jiabin, Wang Jinhu, He Min, Mao Junqing, Zhu Kun, Zhao Manli, Guan Zhonghai, Li Linjie, Jin Hongchuan, Shu Qia |
| Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children. Frontiers in pediatrics 2023 8 11 1192021. Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Li |
| Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis. Clinical and experimental nephrology 2024 6 . Seiya Inoue, Atsushi Kondo, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Ryota Suzuki, Eri Okada, Nana Sakakibara, Tomoko Horinouchi, Kandai No |
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