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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 15, 2025. (Total: 235337Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Syndrome and PKD2[original query]
[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
Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.
Medicine 2020 5 99 (19): e20071.
Shim Kwang Eon, Lee Chung, Kim Jin Up, Choi Gwang Ho, Kwak Kyoung Min, Kim Seok Hyung, Kim Hyunho, Yoon Jong Woo, Shin Tae Young, Jeong Chang Wook, Kim Hyuns
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
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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