Results 101 to 110 of about 4,587 (195)

Pathophysiology of Nephronophthisis

, 2018
[Abstract] Nephronophthisis (NPHP) is chronic tubulointerstitial nephritis with autosomal recessive inheritance and is one of the most common genetic disorders causing end-stage renal disease in children and adolescents.
スギモト, ケイスケ, Sugimoto, Keisuke   +1 more
core  

Nephronophthisis [PDF]

, 2020
openaire   +3 more sources

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation

Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.
Méndez-Martínez, Silvia, Cordón, Beatriz, Viladés, Elisa, Pablo, Luis, Bartol-Puyal, Francisco de Asís, Ruiz Moreno, Óscar   +5 more
core   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

A Rare Genetic Association of an <i>NPHP2</i> Mutation With Nephronophthisis in a Child With Bombay Blood Group. [PDF]

J Med Cases
Leghrouz B, Hindi T, Hilo I, Ballout A, Hindiyeh M.   +4 more
europepmc   +1 more source

Renal Tubule-Specific Deletion of Nephrocystin 3 <i>(Nphp3)</i> Causes Infantile Nephronophthisis-like Phenotypes in Mice. [PDF]

Int J Mol Sci
Du X, Wang C, Fang Y, Wang G, Zhai Y, Shen Q, Tang X, Xu H.   +7 more
europepmc   +1 more source

From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M. [PDF]

Kidney Int Rep
Sıla Koç N.
europepmc   +1 more source

Mapping of gene loci for Nephronophthisis type 4 to chromosome 1p36 through reverse homozygosity mapping

, 2003
Die Nephronophthise (NPH) ist eine zystische Nierenerkrankung mit autosomal-rezessivem Vererbungsmodus. Sie gilt als die häufigste Ursache chronischen Nierenversagens bei Kindern.
Becker, Achim
core  

Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M". [PDF]

Kidney Int Rep
König JC, Dahmer-Heath M, Konrad M.
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