Results 141 to 150 of about 3,912 (211)

Analysis of the expression pattern of the PKHD1 gene product, mutated in autossomal recessive polycystic kidney disease

, 2004
Luis Fernando Glasenapp de Menezes
openalex   +1 more source

Recommendations for management of pregnancy complicated by Caroli disease: A case report and literature review. [PDF]

ILIVER
Liang C, Bai L, Hou W, Song WY, Zhu YX, Zheng SJ.   +5 more
europepmc   +1 more source

A review on hepatocyte nuclear factor-1beta and tumor [PDF]

, 2015

core   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients [PDF]

, 2016
Brunak, Søren, Friis-Nielsen, Jens, Gonzalez-Izarzugaza, Jose Maria   +2 more
core   +1 more source

Kidney organoid models of polycystic kidney disease: challenges and future directions. [PDF]

Am J Physiol Renal Physiol
Afrin H, Qamar U, Robichaud JH, Ellabbad M, Harris PC, Gupta N.   +5 more
europepmc   +1 more source

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant. [PDF]

Am J Case Rep
Thewjitcharoen Y, Nakasatien S, Veerasomboonsin V, Tsoi STF, Lim CKP, Himathongkam T.   +5 more
europepmc   +1 more source

Results of Multigene Panel Testing, Including <i>PKD1</i>, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis. [PDF]

Kidney Med
Tapper EE, Huusko JM, Scocchia AM, Gall K, Roberts MB, Bernal-Quirós M, Valo S, Saarinen I, Rantanen M, Pietila T, Gentile M, Koskinen L, Kumar MM, Myllykangas S, Koskenvuo J.   +14 more
europepmc   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source

A case of pregnancy complicated by caroli disease. [PDF]

BMC Pregnancy Childbirth
Wang W, Qiang X, Cai X, Bai Q.
europepmc   +1 more source