Results 171 to 180 of about 3,398 (180)

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review

Current Medical Science, 2020
Li-Ru Qiu
exaly  

Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

Journal of Assisted Reproduction and Genetics, 2010
Ellis Avner, David P Bick
exaly  

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)†‡

Human Mutation, 2004
Gregory Germino, Luiz F Onuchic, Jan Senderek   +2 more
exaly  

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Frontiers in Genetics, 2023
exaly  

PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease

BMB Reports, 2007
Sizhong Zhang
exaly  

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Frontiers in Genetics
Jingfang Zhai, Dejian Yuan, Zuobin Zhu
exaly  

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

American Journal of Kidney Diseases
Felix Richter, Peter J Giannone, Daniel Greene   +2 more
exaly  

PKHD1, THE POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE

2004
GERMINO GREGORY G, ONUCHIC LUIZ F, NAGASAWA YASU, GUAY-WOODFORD LISA M, SOMOLO STEFAN, FURU VASILE M   +5 more
openaire   +1 more source

Suppression of pkhd1 impairs survival in cultured kidney tubular cells.

2009
MANGOLINI, Alessandra, M. Bogo, AGUIARI, Gianluca, C. Durante, BORGATTI, Monica, GAMBARI, Roberto, DEL SENNO, Laura   +6 more
openaire   +1 more source

Defekte der tubulären Homöostase und Zystogenese im Pkhd1 Knockout

openaire   +1 more source