Results 141 to 150 of about 1,877 (178)

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger. [PDF]

Kidney Int Rep
Granhøj J, Aagaard MM, Pedersen KV, Lildballe DL, Ørskov B, Tougaard BG, Pausgaard RH, Brusgaard K, Svenningsen P, Birn H, Rasmussen M.   +10 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

Nephronophthisis Secondary to NPHP1 Mutation as a Cause of Chronic Renal Failure in a North American Family

American Journal of Kidney Diseases, 2016
openaire   +1 more source

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China. [PDF]

BMC Nephrol
Zhou C, Xiao Y, Xie H, Wei X, Wang J.
europepmc   +1 more source

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Genes and Diseases
Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia Schneider, Abdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt   +26 more
doaj   +1 more source

Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development. [PDF]

J Cell Sci
Moye AR, Robichaux MA, Agosto MA, Moulin AP, Graff-Meyer A, Rivolta C, Wensel TG.   +6 more
europepmc   +1 more source

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years. [PDF]

Clin Kidney J
Granhøj J, Pedersen KV, Aagaard MM, Graakjaer JA, Lildballe DL, Birn H, Rasmussen M.   +6 more
europepmc   +1 more source

[C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-<i>α</i> signaling pathway in renal tubular epithelial cells with <i>NPHP1</i> knockdown]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao
Huang D, Liu Y, Li D, Zhang J, Yang Y, Sun L.   +5 more
europepmc   +1 more source