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High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations
Tory, Ka[Combining Acute Accent]lma[Combining Acute Accent]n, Lacoste, Tiphanie, Burglen, Lydie, Morinie[Combining Grave Accent]re, Vincent, Boddaert, Nathalie, Macher, Marie-Alice, Llanas, Brigitte, Nivet, Hubert, Bensman, Albert, Niaudet, Patrick, Antignac, Corinne, Salomon, Re[Combining Acute Accent]mi, Saunier, Sophie
Published in Journal of the American Society of Nephrology (01.05.2007)
Published in Journal of the American Society of Nephrology (01.05.2007)
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Journal Article
Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study
Otaki, Yoichiro, Watanabe, Tetsu, Sato, Junya, Kobayashi, Yuta, Aono, Tomonori, Saito, Yuji, Goto, Jun, Takahashi, Hiroki, Arimoto, Takanori, Sato, Hidenori, Konta, Tsuneo, Ueno, Yoshiyuki, Watanabe, Masafumi
Published in Heart and vessels (01.04.2022)
Published in Heart and vessels (01.04.2022)
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Journal Article
Association of nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study
Otaki, Y, Watanabe, T W, Goto, J G, Saito, Y S, Aono, T A, Kobayashi, Y K, Sato, J S, Watanabe, M W
Published in European heart journal (12.10.2021)
Published in European heart journal (12.10.2021)
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Journal Article
The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome
Parisi, Melissa A., Bennett, Craig L., Eckert, Melissa L., Dobyns, William B., Gleeson, Joseph G., Shaw, Dennis W.W., McDonald, Ruth, Eddy, Allison, Chance, Phillip F., Glass, Ian A.
Published in American journal of human genetics (01.07.2004)
Published in American journal of human genetics (01.07.2004)
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Journal Article
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Kang, Hee Gyung, Lee, Hyun Kyung, Ahn, Yo Han, Joung, Je-Gun, Nam, Jaeyong, Kim, Nayoung K D, Ko, Jung Min, Cho, Min Hyun, Shin, Jae Il, Kim, Joon, Park, Hye Won, Park, Young Seo, Ha, Il-Soo, Chung, Woo Yeong, Lee, Dae-Yeol, Kim, Su Young, Park, Woong Yang, Cheong, Hae Il
Published in Experimental & molecular medicine (01.08.2016)
Published in Experimental & molecular medicine (01.08.2016)
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Journal Article
Association of nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study
Yoichiro Otaki, Masafumi Watanabe, Yoshihiko Saito, Yuta Kobayashi, Tetsu Watanabe, J S Sato, T Aono, Jun Goto
Published in European Heart Journal (01.10.2021)
Published in European Heart Journal (01.10.2021)
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Journal Article
Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study
Yoichiro Otaki, Tetsu Watanabe, Junya Sato, Yuta Kobayashi, Tomonori Aono, Yuji Saito, Jun Goto, Hiroki Takahashi, Takanori Arimoto, Hidenori Sato, Tsuneo Konta, Yoshiyuki Ueno, Masafumi Watanabe
Published in Heart and Vessels (30.09.2021)
Published in Heart and Vessels (30.09.2021)
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Journal Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
Neřoldová, Magdaléna, Ciara, Elżbieta, Slatinská, Janka, Fraňková, Soňa, Lišková, Petra, Kotalová, Radana, Globinovská, Janka, Šafaříková, Markéta, Pfeiferová, Lucie, Zůnová, Hana, Mrázová, Lenka, Stránecký, Viktor, Vrbacká, Alena, Fabián, Ondřej, Sticová, Eva, Skanderová, Daniela, Šperl, Jan, Kalousová, Marta, Zima, Tomáš, Macek, Milan, Pawlowska, Joanna, Knisely, A. S., Kmoch, Stanislav, Jirsa, Milan
Published in PloS one (20.07.2023)
Published in PloS one (20.07.2023)
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Journal Article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D’Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco
Published in Nephrology, dialysis, transplantation (01.07.2020)
Published in Nephrology, dialysis, transplantation (01.07.2020)
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Journal Article
The renal inflammatory network of nephronophthisis
Marceau Quatredeniers, Bienaime, Frank, Ferri, Giulia, Isnard, Pierre, Poree, Esther, Billot, Katy, Birgy, Eleonore, Ceccarelli, Salome, Legendre, Flora, Braeg, Simone, Nguyen-Khoa, Thao, Salomon, Remi, Gubler, Marie-Claire, Kuehn, E Wolfgang, Saunier, Sophie, Viau, Amandine
Published in bioRxiv (26.11.2021)
Published in bioRxiv (26.11.2021)
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Paper
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Al Swaid, A, Al Shahwan, S, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Journal Article
NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared
Lacquaniti, Antonio, Chirico, Valeria, Donato, Valentina, Briuglia, Silvana, Cernaro, Valeria, Gallizzi, Romina, Salpietro, Carmelo Damiano, Buemi, Michele
Published in Renal failure (01.05.2012)
Published in Renal failure (01.05.2012)
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Journal Article
The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata study
Konta, Tsuneo, Takasaki, Satoshi, Ichikawa, Kazunobu, Emi, Mitsuru, Toriyama, Sayumi, Satoh, Hitoshi, Ikeda, Ami, Suzuki, Kazuko, Mashima, Yusuke, Shibata, Yoko, Watanabe, Tetsu, Kato, Takeo, Kawata, Sumio, Kubota, Isao
Published in Journal of human genetics (01.12.2010)
Published in Journal of human genetics (01.12.2010)
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Journal Article
Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease
Kroiss, Sabine, Huck, Kirsten, Berthold, Silke, Rüschendorf, Franz, Scolari, Francesco, Caridi, Gianluca, Ghiggeri, Gian Marco, Hildebrandt, Friedhelm, Fuchshuber, Arno
Published in Nephrology, dialysis, transplantation (01.06.2000)
Published in Nephrology, dialysis, transplantation (01.06.2000)
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Journal Article
Analyse des manifestations oculaires associées à la néphronophtise et étude génétique chez trois familles tunisiennes
Sellami, D., Makni, K., Chaker, H., Kharrat, M., Hentati, N., Kammoun, K., Chabouni, F., Ben Hamida, M., Hachicha, J., Salomon, R., Antignac, C., Ayadi, H., Feki, J.
Published in Journal français d'ophtalmologie (01.11.2006)
Published in Journal français d'ophtalmologie (01.11.2006)
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Journal Article
Genetic Susceptibility to Chronic Kidney Disease – Some More Pieces for the Heritability Puzzle
Cañadas-Garre, Marisa, Anderson, Kerry, Cappa, Ruaidhri, Skelly, Ryan, Smyth, Laura Jane, McKnight, Amy Jayne, Maxwell, Alexander Peter
Published in Frontiers in genetics (31.05.2019)
Published in Frontiers in genetics (31.05.2019)
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Journal Article
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates
Yuan, Bo, Liu, Pengfei, Gupta, Aditya, Beck, Christine R., Tejomurtula, Anusha, Campbell, Ian M., Gambin, Tomasz, Simmons, Alexandra D., Withers, Marjorie A., Harris, R. Alan, Rogers, Jeffrey, Schwartz, David C., Lupski, James R.
Published in PLoS genetics (01.12.2015)
Published in PLoS genetics (01.12.2015)
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Journal Article
2553 Circulating anti-slit diaphragm NEPHRIN and KIRREL-2 antibodies associate with nephrotic syndrome
Angeletti, Andrea, Bruschi, Maurizio, Cravedi, Paolo, Fribourg, Miguel, Caridi, Gianluca, Ghiggeri, Gian Marco
Published in Nephrology, dialysis, transplantation (23.05.2024)
Published in Nephrology, dialysis, transplantation (23.05.2024)
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Journal Article
Cystic renal diseases: role of ultrasound. Part II, genetic cystic renal diseases
Kabaalioglu, Adnan, Gunduz, Nesrin, Keven, Ayse, Durmaz, Emel, Aslan, Mine, Aslan, Ahmet, Guneyli, Serkan
Published in Medical ultrasonography (16.02.2022)
Published in Medical ultrasonography (16.02.2022)
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Journal Article