Human Genome Epidemiology Literature Finder

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Records 1 - 12 (of 12 Records)

Query Trace: Autosomal Dominant Tubulointerstitial Kidney Disease[original query]
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 5 72 (3): 411-418. Ayasreh Nadia, Bullich Gemma, Miquel Rosa, Furlano Mónica, Ruiz Patricia, Lorente Laura, Valero Oliver, García-González Miguel Angel, Arhda Nisrine, Garin Intza, Martínez Víctor, Pérez-Gómez Vanessa, Fulladosa Xavier, Arroyo David, Martínez-Vea Alberto, Espinosa Mario, Ballarín Jose, Ars Elisabet, Torra Ros Similar articles in PubMed
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC nephrology 2018 10 19 (1): 301. Gast Christine, Marinaki Anthony, Arenas-Hernandez Monica, Campbell Sara, Seaby Eleanor G, Pengelly Reuben J, Gale Daniel P, Connor Thomas M, Bunyan David J, Hoda?ová Kate?ina, Živná Martina, Kmoch Stanislav, Ennis Sarah, Venkat-Raman Similar articles in PubMed
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. Renal failure 2019 9 41 (1): 832-841. Cormican S, Connaughton D M, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly N K, O'Kelly P, Benson K A, Conlon E T, Cavalleri G, Foley C, Doyle B, Dorman A, Little M A, Lavin P, Kidd K, Bleyer A J, Conlon P Similar articles in PubMed
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease. The international journal of biochemistry & cell biology 2019 10 117 105625. Abdelwahed Mayssa, Chaabouni Yosr, Michel-Calemard Laurence, Chaabouni Khansa, Morel Yves, Hachicha Jamil, Makni Fatma Ayedi, Kamoun Hassen, Ammar-Keskes Leila, Belghith Nei Similar articles in PubMed
Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatric nephrology (Berlin, Germany) 2020 5 35 (10): 1877-1886. Ko?buc Marcin, Leßmeier Lennart, Salamon-S?owi?ska Dorota, Ma?ecka Ilona, Pawlaczyk Krzysztof, Walkowiak Jaros?aw, Wysocki Jacek, Beck Bodo B, Zaniew Marc Similar articles in PubMed
Clinical and genetic spectra of kidney disease caused by REN mutations. Kidney international 2020 12 98 (6): 1397-1400. Schaeffer Céline, Olinger Er Similar articles in PubMed
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. Clinical transplantation 2020 1 34 (2): e13783. Cormican Sarah, Kennedy Claire, Connaughton Dervla M, O'Kelly Patrick, Murray Susan, Živná Martina, Kmoch Stanislav, Fennelly Neil K, Benson Katherine A, Conlon Eoin T, Cavalleri Gianpiero L, Foley Claire, Doyle Brendan, Dorman Anthony, Little Mark A, Lavin Peter, Kidd Kendrah, Bleyer Anthony J, Conlon Peter Similar articles in PubMed
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations. American journal of nephrology 2021 6 52 (5): 378-387. Vylet'al Petr, Kidd Kendrah, Ainsworth Hannah C, Springer Drahomíra, Vrbacká Alena, P?istoupilová Anna, Hughey Rebecca P, Alper Seth L, Lennon Niall, Harrison Steven, Harden Maegan, Robins Victoria, Taylor Abbigail, Martin Lauren, Howard Katrice, Bitar Ibrahim, Langefeld Carl D, Barešová Veronika, Hartmannová Hana, Hoda?ová Kate?ina, Zima Tomáš, Živná Martina, Kmoch Stanislav, Bleyer Anthony Similar articles in PubMed
Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation. CEN case reports 2021 2 10 (3): 426-430. Takemasa Yoichi, Hirano Daishi, Kawakami Yuhei, Tokunaga Ai, Umeda Chisato, Miwa Saori, Kakegawa Daisuke, Ito Akira, Ida Hiroyu Similar articles in PubMed
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort. Scientific reports 2021 2 11 (1): 3615. Gong Kunjing, Xia Min, Wang Yaqin, Wang Na, Liu Ying, Zhang Victor Wei, Cheng Hong, Chen Yuqi Similar articles in PubMed
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 2022 8 119 (33): e2114734119. Olinger Eric, Schaeffer Céline, Kidd Kendrah, Elhassan Elhussein A E, Cheng Yurong, Dufour Inès, Schiano Guglielmo, Mabillard Holly, Pasqualetto Elena, Hofmann Patrick, Fuster Daniel G, Kistler Andreas D, Wilson Ian J, Kmoch Stanislav, Raymond Laure, Robert Thomas, , Eckardt Kai-Uwe, Bleyer Anthony J, Köttgen Anna, Conlon Peter J, Wiesener Michael, Sayer John A, Rampoldi Luca, Devuyst Olivi Similar articles in PubMed
Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease. Kidney international reports 2022 5 7 (4): 857-866. Okada Eri, Morisada Naoya, Horinouchi Tomoko, Fujii Hideki, Tsuji Takayuki, Miura Masayoshi, Katori Hideyuki, Kitagawa Masashi, Morozumi Kunio, Toriyama Takanobu, Nakamura Yuki, Nishikomori Ryuta, Nagai Sadayuki, Kondo Atsushi, Aoto Yuya, Ishiko Shinya, Rossanti Rini, Sakakibara Nana, Nagano China, Yamamura Tomohiko, Ishimori Shingo, Usui Joichi, Yamagata Kunihiro, Iijima Kazumoto, Imasawa Toshiyuki, Nozu Kand Similar articles in PubMed