Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 62 Records) |
Query Trace: Syndrome and WT1[original query] |
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Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in genetics 2018 9 214. Abid Aiysha, Shahid Saba, Shakoor Madiha, Lanewala Ali A, Hashmi Seema, Khaliq Shaguf |
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. Pediatric nephrology (Berlin, Germany) 2018 Jun . Bezdí?ka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ond?ej, Malina Michal, Šimánková Nad?žda, Pr?hová Št?pánka, Zieg Jak |
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. BMC nephrology 2018 12 19 (1): 382. Li Guo-Min, Cao Qi, Shen Qian, Sun Li, Zhai Yi-Hui, Liu Hai-Mei, An Yu, Xu Ho |
Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population. Frontiers in pediatrics 2018 11 6 307. Varner Jennifer D, Chryst-Stangl Megan, Esezobor Christopher Imokhuede, Solarin Adaobi, Wu Guanghong, Lane Brandon, Hall Gentzon, Abeyagunawardena Asiri, Matory Ayo, Hunley Tracy E, Lin Jen Jar, Howell David, Gbadegesin Rashe |
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. Annals of clinical and laboratory science 2019 7 49 (3): 330-337. Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw |
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation. Iranian journal of kidney diseases 2019 6 13 (3): 165-172. Shojaei Azadeh, Serajpour Niloofar, Karimi Behnaz, Hooman Nakysa, Hosseini Rozita, Khosravi Pedr |
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 |
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. Pediatric research 2019 Feb . Li Jianguo, Wang Lijun, Wan Ling, Lin Tiantian, Zhao Wentao, Cui Hang, Li Huarong, Cao Li, Wu Jianxin, Zhang Ti |
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort. European journal of medical genetics 2020 9 63 (11): 104047. Sun Shuzhen, Xu Linan, Bi Yunli, Wang Jing, Zhang Zhiqing, Tang Xiaoshan, Cao Qi, Zhai Yihui, Chen Jing, Fang Xiaoyan, Liu Jialu, Fang Ye, Xiang Tianchao, Qian Yanyan, Wu Bingbing, Wang Huijun, Zhou Wenhao, Shen Jian, Dong Kuiran, Liu Xiaorong, Zheng Bixia, Zhang Aihua, Wang Xiaowen, Wu Yubing, Ma Duan, Shen Qian, Rao Jia, Xu Ho |
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977?kb deletion in the 11p13 region. BMC medical genomics 2020 9 13 (Suppl 8): 130. Vasilyeva Tatyana A, Marakhonov Andrey V, Minzhenkova Marina E, Markova Zhanna G, Petrova Nika V, Sukhanova Natella V, Koshkin Philipp A, Pyankov Denis V, Kanivets Ilya V, Korostelev Sergey A, Krynskaya Irina A, Shilova Nadezhda V, Kutsev Sergey I, Kadyshev Vitaly V, Zinchenko Rena |
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 |
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. Journal of clinical medicine 2020 7 9 (6): . Park Eujin, Lee Chung, Kim Nayoung K D, Ahn Yo Han, Park Young Seo, Lee Joo Hoon, Kim Seong Heon, Cho Min Hyun, Cho Heeyeon, Yoo Kee Hwan, Shin Jae Il, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review. Pediatric nephrology (Berlin, Germany) 2020 7 36 (6): 1353-1364. Malakasioti Georgia, Iancu Daniela, Tullus Kje |
Hotspots mutational analysis of Wilms tumor 1 gene in acute myeloid leukaemia; prevalence and clinical correlation in North Indian population. American journal of blood research 2020 10 (5): 179-189. Haider Imran, Kumar Chandan, Jain Garima, Bakhshi Sameer, Kumar Lalit, Chopra Anita, Ranjan Amar, Tanwar Pran |
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome. Molecular biology reports 2021 Sep . Thakor Jinal M, Parmar Glory, Mistry Kinnari N, Gang Sishir, Rank Dharamshibhai N, Joshi Chaitanya |
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 |
Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants. Kidney international reports 2021 8 6 (8): 2114-2121. Nagano China, Takaoka Yutaka, Kamei Koichi, Hamada Riku, Ichikawa Daisuke, Tanaka Kazuki, Aoto Yuya, Ishiko Shinya, Rossanti Rini, Sakakibara Nana, Okada Eri, Horinouchi Tomoko, Yamamura Tomohiko, Tsuji Yurika, Noguchi Yuko, Ishimori Shingo, Nagase Hiroaki, Ninchoji Takeshi, Iijima Kazumoto, Nozu Kand |
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 |
Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations. Internal medicine (Tokyo, Japan) 2021 5 60 (23): 3785-3788. Murakami Ken, Yamaguchi Yuuta, Kida Yuko, Morikawa Yoichiro, Ujiie Hidetoshi, Sugahara Hiroyuki, Nannya Yasuhito, Ogawa Seishi, Kanakura Yuzu |
Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome-excess blasts detected by next-generation sequencing technique. Annals of hematology 2021 Apr . Owattanapanich Weerapat, Herzig Julia, Jahn Nikolaus, Panina Ekaterina, Ruchutrakool Theera, Kungwankiattichai Smith, Issaragrisil Surapol, Döhner Hartmut, Döhner Konstan |
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa. European journal of pediatrics 2022 Oct 181 (10): 3595-3606. Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar |
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study. Journal of pediatric genetics 2022 8 11 (3): 185-191. Singh Akanksha, Singh Ankur, Mishra Om Prakash, Prasad Rajniti, Narayan Gopeshwar, Batra Vineeta V, Tabatabaeifar Mansoureh, Schaefer Fra |
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study. Frontiers in medicine 2022 9 885178. Zhu Xiujuan, Zhang Yanqin, Yu Zihua, Yu Li, Huang Wenyan, Sun Shuzhen, Li Yingjie, Wang Mo, Li Yongzhen, Sun Liangzhong, Yang Qing, Deng Fang, Shao Xiaoshan, Liu Ling, Liu Cuihua, Qin Yuanhan, Feng Shipin, Zhu Hongtao, Yang Fang, Zheng Weimin, Zheng Wanqi, Zhong Rirong, Hou Ling, Mao Jianhua, Wang Fang, Ding J |
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic. Delaware journal of public health 2022 5 7 (5): 24-27. Kirwin Susan M, Robbins Katherine M, Vinette Kathleen M B, Hirata Lee, Gripp Karen W, Funanage Vicky |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2022 2 32 (3): 798-805. Almokali Khamisa, Alyami Ali, Ajeebi Abdulaziz, Almutairi Turki, Aldriwesh Mar |
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 |
UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome. Blood cancer journal 2023 5 13 (1): 88. Julia-Annabell Georgi, Sebastian Stasik, Jan-Niklas Eckardt, Sven Zukunft, Marita Hartwig, Christoph Röllig, Jan Moritz Middeke, Uta Oelschlägel, Utz Krug, Tim Sauer, Sebastian Scholl, Andreas Hochhaus, Tim H Brümmendorf, Ralph Naumann, Björn Steffen, Hermann Einsele, Markus Schaich, Andreas Burchert, Andreas Neubauer, Kerstin Schäfer-Eckart, Christoph Schliemann, Stefan W Krause, Mathias Hänel, Richard Noppeney, Ulrich Kaiser, Claudia D Baldus, Martin Kaufmann, Carsten Müller-Tidow, Uwe Platzbecker, Wolfgang E Berdel, Hubert Serve, Gerhard Ehninger, Martin Bornhäuser, Johannes Schetelig, Frank Kroschinsky, Christian Thiede, |
Wilms' tumor 1 expression combined with genetic mutations for prognostic assessment in MDS. Leukemia & lymphoma 2023 3 1-9. Pan Danqi, Zhao Wenshu, Jiang Qianli, Yin Changxin, He Han, Liao Libin, Ye Jieyu, Dai M |
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- Page last updated:Apr 22, 2024
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