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Journal Article
Journal Article
Nephrologie et Thérapeutique, ISSN 1769-7255, 11/2018, Volume 14, Issue 6, pp. 474 - 477
La polykystose rénale récessive (PKR) est due à des mutations du gène . L’objectif de l’étude est de caractériser la variabilité phénotypique en fonction des... 
ARPKD | Autosomal recessive polycystic kidney disease | PKHD1 mutation | Corrélation génotype–phénotype | Genotype–phenotype correlation | Polykystose rénale autosomique récessive | Mutation PKHD1
Journal Article
by Burgmaier, Kathrin and Burgmaier, Mathias and Kunzmann, Kevin and Ariceta, Gema and Bergmann, Carsten and Buescher, Rainer and Buescher, Anja Katrin and Dursun, Ismail and Duzova, Ali and Eid, Loai and Erger, Florian and Feldkoetter, Markus and Galiano, Matthias and Geßner, Michaela and Goebel, Heike and Gokce, Ibrahim and Haffner, Dieter and Hooman, Nakysa and Hoppe, Bernd and Jankauskiene, Augustina and Klaus, Guenter and König, Jens and Litwin, Mieczyslaw and Massella, Laura and Mekahli, Djalila and Melek, Engin and Mir, Sevgi and Pape, Lars and Prikhodina, Larisa and Ranchin, Bruno and Schild, Raphael and Seeman, Tomas and Sever, Lale and Shroff, Rukshana and Soliman, Neveen A and Stabouli, Stella and Stanczyk, Malgorzata and Tabel, Yilmaz and Taranta-Janusz, Katarzyna and Testa, Sara and Thumfart, Julia and Topaloglu, Rezan and Weber, Lutz Thorsten and Wicher, Dorota and Wühl, Elke and Wygoda, Simone and Yilmaz, Alev and Zachwieja, Katarzyna and Zagozdzon, Ilona and Zerres, Klaus and Ranguelov, Nadejda and Godefroid, Nathalie and Collard, Laure and Lombet, Jacques and Maquet, Julie and Schalk, Gesa and Querfeld, Uwe and Beck, Bodo B and Benzing, Thomas and Buettner, Reinhard and Grundmann, Franziska and Kurschat, Christine and Benz, Marcus and Benz, Kerstin and Tzschoppe, Anja and Buchholz, Björn and Häffner, Karsten and Pohl, Martin and Gross, Oliver and Krügel, Jenny and Stock, Johanna and Patzer, Ludwig and Oh, Jun and Bernhardt, Wanja and Doyon, Anke and Vinke, Tobias and Sander, Anja and Henn, Michael and Derichs, Ute and Beetz, Rolf and Jeck, Nikola and Lange-Sperandio, Bärbel and Ponsel, Sabine and Kusser, Franziska and Uetz, Barbara and Schmidt, Silke and Huppertz-Kessler, Christina and Kranz, Birgitta and Titieni, Andrea and Wurm, Donald and Leichter, Heinz E and Bald, Martin and Billing, Heiko and Nabhan, Marwa M and Lara, Luis Enrique and Papachristou, Fotios and Emma, Francesco and Cerkauskiene, Rimante and Azukaitis, Karolis and Wasilewska, Anna and ... and ESCAPE Study Grp and ARegPKD Consortium and GPN Study Grp and ESCAPE Study Group and ARegPKD consortium and GPN Study Group
The Journal of Pediatrics, ISSN 0022-3476, 08/2018, Volume 199, pp. 22 - 28.e6
Journal Article
Journal Article
by Yang, N and Leng, YJ and Dai, SD and Chen, C and Liu, CF and Cao, LH
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, ISSN 0954-691X, 03/2019, Volume 31, Issue 3, pp. 363 - 367
Objective Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized by hepatic fibrosis, portal hypertension, and... 
PKHD1 | KIDNEY-DISEASE | GENOTYPE-PHENOTYPE CORRELATIONS | MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | whole-exome sequencing | congenital hepatic fibrosis
Journal Article
NEFROLOGIA, ISSN 0211-6995, 05/2016, Volume 36, Issue 3, pp. 318 - 320
Journal Article
Diagnostic Pathology, ISSN 1746-1596, 12/2017, Volume 12, Issue 1, pp. 1 - 6
Abstract Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent... 
Liver biopsy | PKHD1 | Abernethy malformation | Caroli’s syndrome
Journal Article
Journal Article
PLOS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8
We have previously mapped the interval on Chromosome 4 for a major polycystic kidney disease modifier (Mpkd) of the B6(Cg)-Cys1(cpk)/J mouse model of recessive... 
ENCODES | PKHD1 | MODIFIER | PROTEIN | POLYCYSTIC KIDNEY-DISEASE | MACROPHAGES | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | AUTOSOMAL-DOMINANT | MODEL | IDENTIFICATION
Journal Article
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, ISSN 1931-857X, 03/2019, Volume 316, Issue 3, pp. F463 - F472
Heterozygosity for human polycystic kidney and hepatic disease 1 (PKHD1) mutations was recently associated with cystic liver disease and radiographic findings... 
CRISPR | Cas9 nucleases | ARPKD | PHYSIOLOGY | MOUSE MODEL | GENES | gene targeting | UROLOGY & NEPHROLOGY | polycystic liver disease | gene editing | PCLD | PKHD1 MUTATIONS
Journal Article
GASTROENTEROLOGY, ISSN 0016-5085, 05/2013, Volume 144, Issue 5, pp. 1156 - 1157
Journal Article
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 02/2018, Volume 5, p. 221
Journal Article
European Journal of Gastroenterology & Hepatology, ISSN 0954-691X, 03/2019, Volume 31, Issue 3, pp. 363 - 367
OBJECTIVECongenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized by hepatic fibrosis, portal hypertension, and... 
PKHD1 | whole-exome sequencing | congenital hepatic fibrosis | Cellular proteins | Care and treatment | Liver diseases | Genetic variation | Fibrosis | Development and progression | Genetic aspects | Health aspects
Journal Article
Journal Article