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Select item 109969531.

Imaging of hydatid cyst of kidney, ureter and urinary bladder

Shivani Gupta, Chandan Jyoti Das

Br J Radiol. 2022 Sep; 95(1137): 20211373. Published online 2022 Jun 21. doi: 10.1259/bjr.20211373

PMCID:: PMC10996953

Article PDF–1.5M

Select item 109788962.

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

Hum Genome Var. 2024; 11: 17. Published online 2024 Mar 28. doi: 10.1038/s41439-024-00273-0

PMCID:: PMC10978896

Article PDF–1.2M

Select item 109779023.

Atypical Manifestation of Adult Polycystic Kidney Disease in an Elderly Individual

Oxana Ushakova, Keyvan Ravakhah

Cureus. 2024 Feb; 16(2): e55072. Published online 2024 Feb 27. doi: 10.7759/cureus.55072

PMCID:: PMC10977902

Article PDF–267K

Select item 109731424.

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

Julia C. Fox, Susanne T. Hahnenstein, Fatima Hassan, Andrea Grund, Dieter Haffner, Wolfgang H. Ziegler

iScience. 2024 Apr 19; 27(4): 109487. Published online 2024 Mar 11. doi: 10.1016/j.isci.2024.109487

PMCID:: PMC10973142

Article PDF–4.8M

Select item 109635435.

Causality between allergic diseases and kidney diseases: a two-sample Mendelian randomization study

Zhe Peng, Xinyu Dong, Yingxin Long, Zunjiang Li, Yueyao Wang, Wei Zhu, Banghan Ding

Front Med (Lausanne) 2024; 11: 1347152. Published online 2024 Mar 12. doi: 10.3389/fmed.2024.1347152

PMCID:: PMC10963543

Article PDF–3.0M

Select item 109579696.

Asymmetric synthesis of P-stereogenic phosphindane oxides via kinetic resolution and their biological activity

Long Yin, Jiajia Li, Changhui Wu, Haoran Zhang, Wenchao Zhao, Zhiyuan Fan, Mengxuan Liu, Siqi Zhang, Mengzhe Guo, Xiaowei Dou, Dong Guo

Nat Commun. 2024; 15: 2548. Published online 2024 Mar 21. doi: 10.1038/s41467-024-46892-7

PMCID:: PMC10957969

Article PDF–1.3M

Select item 109577507.

Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study

Angham Almutair, Beshaier Almulhem

Front Endocrinol (Lausanne) 2024; 15: 1294264. Published online 2024 Mar 8. doi: 10.3389/fendo.2024.1294264

PMCID:: PMC10957750

Article PDF–562K

Select item 109429418.

Ocular manifestations of renal ciliopathies

Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol. 2024; 39(5): 1327–1346. Published online 2023 Aug 30. doi: 10.1007/s00467-023-06096-5

PMCID:: PMC10942941

Article PDF–1.4M

Select item 109322449.

Autosomal Dominant Polycystic Kidney Disease: Extrarenal Involvement

Matteo Righini, Raul Mancini, Marco Busutti, Andrea Buscaroli

Int J Mol Sci. 2024 Mar; 25(5): 2554. Published online 2024 Feb 22. doi: 10.3390/ijms25052554

PMCID:: PMC10932244

Article PDF–2.1M

Select item 1093056810.

17q12微缺失综合征的产前超声特征及遗传学分析

张振辉, 盘丽娟, 谌奎芳, 谭荣

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Dec 28; 46(12): 1370–1374. Chinese. doi: 10.11817/j.issn.1672-7347.2021.210412

PMCID:: PMC10930568

Article PDF–655K

Select item 1091897411.

First case of nodular dermatofibrosis with cystic renal disease in a beagle: An atypical case without FLCN gene mutation

Belén Rivera Gómez‐Barris, Veronica Balazs, Katherine Chaguay Villamar, Constanza Toro‐Valdivieso

Vet Med Sci. 2024 Mar; 10(2): e1401. Published online 2024 Mar 7. doi: 10.1002/vms3.1401

PMCID:: PMC10918974

Article PDF–954K

Select item 1091279312.

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang

Mol Genet Genomic Med. 2024 Mar; 12(3): e2399. Published online 2024 Mar 4. doi: 10.1002/mgg3.2399

PMCID:: PMC10912793

Article PDF–9.2M

Select item 1089987613.

Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report

Xuemei Zhang, Kun Liu, Xiaona Lu, Wenlan Zheng, Jia Shi, Shihan Yu, Hai Feng, Zhuo Yu

J Clin Transl Hepatol. 2024 Mar 28; 12(3): 327–331. Published online 2024 Feb 19. doi: 10.14218/JCTH.2023.00464

PMCID:: PMC10899876

Article PDF–1.9M

Select item 1089402914.

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype

Chiara Dordoni, Letizia Zeni, Diego Toso, Cinzia Mazza, Federica Mescia, Roberta Cortinovis, Laura Econimo, Gianfranco Savoldi, Federico Alberici, Francesco Scolari, Claudia Izzi

Clin Kidney J. 2024 Feb; 17(2): sfae026. Published online 2024 Feb 15. doi: 10.1093/ckj/sfae026

PMCID:: PMC10894029

Article PDF–1.3M

Select item 1087939015.

Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease

Ying Liu, Ping Zhu, Jiajun Tian

Front Med (Lausanne) 2024; 11: 1344151. Published online 2024 Feb 7. doi: 10.3389/fmed.2024.1344151

PMCID:: PMC10879390

Article PDF–3.5M

Select item 1086562016.

HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial

Thomas Bais, Esther Meijer, Bart J. Kramers, Priya Vart, Marc Vervloet, Mahdi Salih, Bert Bammens, Nathalie Demoulin, Polina Todorova, Roman-Ulrich Müller, Jan Halbritter, Alexander Paliege, Emilie Cornec-Le Gall, Bertrand Knebelmann, Roser Torra, Albert C. M. Ong, Fiona E. Karet Frankl, Ron T. Gansevoort

Trials. 2024; 25: 120. Published online 2024 Feb 14. doi: 10.1186/s13063-024-07952-x