Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Cysts and PKD1[original query] |
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| Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease. Pediatric nephrology (Berlin, Germany) 2009 May 24 (5): 983-9. Fencl Filip, Janda Jan, Bláhová Kveta, Hríbal Zdenek, Stekrová Jitka, Puchmajerová Alena, Seeman Tom |
| Novel PKD1 mutations - the effect on clinical phenotype of ADPKD patients in Lower Silesia. Post?py higieny i medycyny do?wiadczalnej (Online) 2013 67 (0): 157-63. Augustyniak-Bartosik Hanna, Krajewska Magdalena, Weyde Wac?aw, Madziarska Katarzyna, Rurek Micha?, Klinger Mari |
| Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatric blood & cancer 2016 Aug . Truscott Laurel, Gell Joanna, Chang Vivian Y, Lee Hane, Strom Samuel P, Pillai Rex, Sisk Anthony, Martinez-Agosto Julian A, Anderson Martin, Federman No |
| Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. European journal of human genetics : EJHG 2016 Aug . Wills Edgar S, Cnossen Wybrich R, Veltman Joris A, Woestenenk Rob, Steehouwer Marloes, Salomon Jody, Te Morsche René H M, Huch Meritxell, Hehir-Kwa Jayne Y, Banning Martijn J, Pfundt Rolph, Roepman Ronald, Hoischen Alexander, Drenth Joost P |
| Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations. Radiology 2016 Apr 151650. Kim Jin Ah, Blumenfeld Jon D, Chhabra Shalini, Dutruel Silvina P, Thimmappa Nanda Deepa, Bobb Warren O, Donahue Stephanie, Rennert Hanna E, Tan Adrian Y, Giambrone Ashley E, Prince Martin |
| Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease. Cancer genetics 2015 Dec . Zhang Wanying, Tan Adrian Y, Blumenfeld Jon, Liu Genyan, Michaeel Alber, Zhang Tuo, Robinson Brian D, Salvatore Steven P, Kapur Sandip, Donahue Stephanie, Bobb Warren O, Rennert Han |
| Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 2017 10 22 102. Fatehi Razieh, Khosravi Sharifeh, Abedi Maryam, Salehi Rasoul, Gheisari Yous |
| Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease. Journal of magnetic resonance imaging : JMRI 2018 9 49 (3): 894-903. Zhang Weiguo, Stephens Chelsea J, Blumenfeld Jon D, Behzadi Ashkan Heshmatzadeh, Donahue Stephanie, Bobb Warren O, Newhouse Jeffrey H, Rennert Hanna, Zhao Yize, Prince Martin |
| Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology : JASN 2018 7 29 (8): 2139-2156. Tan Adrian Y, Zhang Tuo, Michaeel Alber, Blumenfeld Jon, Liu Genyan, Zhang Wanying, Zhang Zhengmao, Zhu Yi, Rennert Lior, Martin Che, Xiang Jenny, Salvatore Steven P, Robinson Brian D, Kapur Sandip, Donahue Stephanie, Bobb Warren O, Rennert Han |
| Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. Gene 2018 6 671 28-35. Abdelwahed Mayssa, Hilbert Pascale, Ahmed Asma, Mahfoudh Hichem, Bouomrani Salem, Dey Mouna, Hachicha Jamil, Kamoun Hassen, Keskes-Ammar Leila, Belguith Neï |
| Exome sequencing of Saudi Arabian patients with ADPKD. Renal failure 2019 9 41 (1): 842-849. Al-Muhanna Fahad A, Al-Rubaish Abdullah M, Vatte Chittibabu, Mohiuddin Shamim Shaikh, Cyrus Cyril, Ahmad Arafat, Shakil Akhtar Mohammed, Albezra Mohammad Ahmad, Alali Rudaynah A, Almuhanna Afnan F, Huang Kai, Wang Lusheng, Al-Kuwaiti Feras, Elsalamouni Tamer S Ahmed, Al Hwiesh Abdullah, Huang Xiaoyan, Keating Brendan, Li Jiankang, Lanktree Matthew B, Al-Ali Amein |
| Spleen phenotype in autosomal dominant polycystic kidney disease. Clinical radiology 2019 9 74 (12): 975.e17-975.e24. Yin X, Prince W K, Blumenfeld J D, Zhang W, Donahue S, Bobb W O, Rennert H, Askin G, Barash I, Prince M |
| ALG9 Mutation Carriers Develop Kidney and Liver Cysts. Journal of the American Society of Nephrology : JASN 2019 8 30 (11): 2091-2102. Besse Whitney, Chang Alex R, Luo Jonathan Z, Triffo William J, Moore Bryn S, Gulati Ashima, Hartzel Dustin N, Mane Shrikant, , Torres Vicente E, Somlo Stefan, Mirshahi Toor |
| Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. Clinical and experimental nephrology 2019 4 23 (8): 1022-1030. Mochizuki Toshio, Teraoka Atsuko, Akagawa Hiroyuki, Makabe Shiho, Akihisa Taro, Sato Masayo, Kataoka Hiroshi, Mitobe Michihiro, Furukawa Toru, Tsuchiya Ken, Nitta Kosa |
| MR Brain Screening in ADPKD Patients : To Screen or not to Screen? Clinical neuroradiology 2021 9 32 (1): 69-78. Capelli I, Zoli M, Righini M, Faccioli L, Aiello V, Spinardi L, Gori D, Friso F, Rustici A, Bortolotti C, Graziano C, Mantovani V, Sciascia N, Mazzatenta D, Seri M, Pastore Trossello M, La Manna |
| PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 6 30 (9): 105943. Shigemori Kaori, Higashihara Eiji, Itoh Masayuki, Yoshida Hiroki, Yamamoto Kouji, Nutahara Kikuo, Shiokawa Yoshiaki, Kaname Shinya, Tambo Mitsuhiro, Yamaguchi Tsuyoshi, Taguchi Satoru, Yoshioka Tatsuya, Yokoyama Kenichi, Fukuhara Hiros |
| Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease. Hepatology international 2021 4 15 (3): 791-803. Kataoka Hiroshi, Watanabe Saki, Sato Masayo, Manabe Shun, Makabe Shiho, Akihisa Taro, Ushio Yusuke, Iwasa Naomi, Yoshida Rie, Tsuchiya Ken, Nitta Kosaku, Mochizuki Tosh |
| Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease. Annals of translational medicine 2021 2 9 (2): 120. Wang Jiaru, Yang Huayu, Guo Ruohan, Sang Xinting, Mao Yil |
| Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China. Andrologia 2021 Nov e14273. Li Weina, Liu Gang, Zhao Xingguo, Lu Yichang, Li Huanzhu, Zhang Huan, Lin |
| Molecular detection of polycystic kidney disease in Persian and Persian-related breeds in Iran. JFMS open reports 2022 2 8 (1): 20551169211070991. Moazezi Ghavihelm Ali, Jamshidi Shahram, Ashrafi Tamai Iraj, Zangisheh Mah |
| Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis. JHEP reports : innovation in hepatology 2022 10 4 (11): 100579. Sierks Dana, Schönauer Ria, Friedrich Anja, Hantmann Elena, de Fallois Jonathan, Linder Nikolas, Fischer Janett, Herber Adam, Bergmann Carsten, Berg Thomas, Halbritter J |
| Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools. Gene 2022 1 817 146174. Abdelwahed Mayssa, Hilbert Pascale, Ahmed Asma, Dey Mouna, Bouomrani Salem, Kamoun Hassen, Ammar-Keskes Leila, Belguith Nei |
| Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases. Genes 2023 6 14 (6): . Ersilia Nigro, Maria Amicone, Daniela D'Arco, Gina Sellitti, Oriana De Marco, Maria Guarino, Eleonora Riccio, Antonio Pisani, Aurora Danie |
| Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients. Genes 2023 2 14 (2): . Suzuki Yasuo, Katayama Kan, Saiki Ryosuke, Hirabayashi Yosuke, Murata Tomohiro, Ishikawa Eiji, Ito Masaaki, Dohi Kao |
| 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 |
| Intestinal Barrier Function Declines During Polycystic Kidney Disease Progression. American journal of physiology. Renal physiology 2024 12 . Randee Sedaka, Caleb Lovelady, Emily Hallit, Branden Duyvestyn, Sejal Shinde, Aida Moran-Reyna, Goo Lee, Shinobu Yamaguchi, Craig L Maynard, Takamitsu Saigu |
| PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients. American journal of nephrology 2024 1 . Hamad Ali, Barrak Alahmad, Sarah R Senum, Samia Warsame, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Malak Alqaddoumi, Fahd Al-Mulla, Peter C Harr |
- Page last reviewed:Feb 1, 2024
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