Results 111 to 120 of about 5,140 (191)

Spatiotemporal dynamics of renal distal convoluted tubule dilatation and cyst formation in nephronophthisis type 1 mice. [PDF]

Ren Fail
Zhang W, Xu G, Su X, Lai J, Xue Z, Li T, Huang H, Li R, Sun L, Li Y.   +9 more
europepmc   +1 more source

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped ...
Walz G, Hildebrandt F, Obara T, Mueller AM, Hoefele J, Otto EA, Beekmann F, Foreman JW, Antignac C, O'Toole JF, Hiller KS, Nivet H, Benzing T, Kispert A, Goodship JA, Gagnadoux MF, Schermer B, Landau D, Strachan T, Wolf MT, Drummond IA, Ruf RG   +21 more
core  

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant. [PDF]

CEN Case Rep
Tomori S, Miura K, Shirai Y, Hashimoto T, Hada I, Kurayama R, Morisada N, Nozu K, Hattori M.   +8 more
europepmc   +1 more source

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease. [PDF]

Clin J Am Soc Nephrol
Petzold F, Jeanpierre C, Chen X, Morinière V, Benmerah A, Dorval G, Saei H, Heidet L, Antignac C, Saunier S, INSERM–Necker Hospital NPH Collaborative Group .   +10 more
europepmc   +1 more source

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report. [PDF]

J Med Case Rep
Demirtas İ, Bek SG.
europepmc   +1 more source

The pedfix technique: a new minimally invasive method of peritoneal dialysis catheter insertion with secure fixation to the abdominal wall-a preliminary experience. [PDF]

Pediatr Surg Int
Cascio S, Cascio M, Abdelraheem I.
europepmc   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Renaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature. [PDF]

Cureus
Kuang K, Vatsa S, Ramakrishnan R, Shenoy A, Shoja MM, Al-Eyd G.   +5 more
europepmc   +1 more source