Results 171 to 180 of about 2,524,364 (180)

Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1‐p12

American Journal of Medical Genetics Part A, 2007
Kasmintan A, Schrader, Tanya N, Nelson, Deborah E, McFadden, Tapio, Pantzar, Sylvie, Langlois   +4 more
openaire   +2 more sources

Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

Mammalian Genome, 1999
L F, Onuchic, M, Mrug, A L, Lakings, G, Muecher, J, Becker, K, Zerres, E D, Avner, M, Dixit, S, Somlo, G G, Germino, L M, Guay-Woodford   +10 more
openaire   +2 more sources

PKHD1 post-transcriptionally modulated by miR-365-1 inhibits cell-cell adhesion

Cell Biochemistry and Function, 2012
Xiaoyan Lv
exaly  

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

Pediatric Nephrology, 2013
Roser Torra, Elisabet Ars, Jose Ballarin
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  

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Frontiers in Genetics, 2023
exaly  

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

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

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)†‡

Human Mutation, 2005
Jan Senderek, Frank Schneider, Carsten Bergmann   +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

Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome

Frontiers in Genetics
Xinlin Chen
exaly