Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Syndrome and PKD1[original query] |
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| [Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 60-3. Li Haijiang, Zhang Linming, Chen Tao, Yang Dan, Zhu Yangfan, Wang Liho |
| Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : JASN 2019 May . Cameron-Christie Sophia, Wolock Charles J, Groopman Emily, Petrovski Slavé, Kamalakaran Sitharthan, Povysil Gundula, Vitsios Dimitrios, Zhang Mengqi, Fleckner Jan, March Ruth E, Gelfman Sahar, Marasa Maddalena, Li Yifu, Sanna-Cherchi Simone, Kiryluk Krzysztof, Allen Andrew S, Fellström Bengt C, Haefliger Carolina, Platt Adam, Goldstein David B, Gharavi Ali |
| Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (8): 1374-1383. Schönauer Ria, Baatz Sebastian, Nemitz-Kliemchen Melanie, Frank Valeska, Petzold Friederike, Sewerin Sebastian, Popp Bernt, Münch Johannes, Neuber Steffen, Bergmann Carsten, Halbritter J |
| Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. Journal of nephrology 2021 5 34 (6): 1855-1874. Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattis |
| Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome. European urology 2021 12 81 (3): 229-233. Gupta Sounak, Lohse Christine M, Rowsey Ross, McCarthy Michael R, Shen Wei, Herrera-Hernandez Loren, Boorjian Stephen A, Houston Thompson R, Jimenez Rafael E, Leibovich Bradley C, Cheville John |
| Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes. Genes 2022 3 13 (3): . Peces Ramón, Peces Carlos, Mena Rocío, Cuesta Emilio, García-Santiago Fe Amalia, Ossorio Marta, Afonso Sara, Lapunzina Pablo, Nevado Juli |
| A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
| Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort. PloS one 2023 8 18 (8): e0288336. Gioia Quarantani, Anna Sorgente, Massimo Alfano, Giovanni Battista Pipitone, Luca Boeri, Edoardo Pozzi, Federico Belladelli, Filippo Pederzoli, Anna Maria Ferrara, Francesco Montorsi, Anna Moles, Paola Carrera, Andrea Salonia, Giorgio Casa |
| Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease. Clinical genetics 2024 12 . Pelin Ercoskun, Aydeniz Aydin Gumus, Ezgi Gokpinar Ili, Lale Yilmaz Celik, Mustafa Dogan, Sevgi Yavuz, Gursel Yildiz, Alper Gezdiri |
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