Results 141 to 150 of about 5,140 (191)

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

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Nephron
Claus LR, Snoek R, Faber S, Roskothen-Shevchuk AJC, Sendino Garví E, Peters EDJ, Savelberg SMC, Duran K, van der Zwaag B, Nguyen TQ, Broekhuizen R, Brummelhuis WJ, Rookmaaker M, van der Veen SW, Elferink MG, Karras A, Raymond L, Mousseaux C, Sadeghi-Alavijeh O, Sayer JA, Olinger E, Neatu R, Klämbt V, Stokman MF, Knoers NVAM, Tessadori F, Gale DP, Boldt K, Ueffing M, Slaats GG, Roepman R, Hildebrandt F, Mesnard L, van Haaften G, van Eerde AM.   +34 more
europepmc   +1 more source

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

American Journal of Human Genetics, 2000
SummaryNephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to originate from separate gene loci.
André Reis, Heymut Omran, Rüdiger Waldherr   +2 more
exaly   +2 more sources

Clinical and Genetic Analyses of a Dutch Cohort of 40 Patients With a Nephronophthisis-Related Ciliopathy [PDF]

Pediatric Nephrology, 2018
Background: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent.
Rachel H Giles, Jeroen van Reeuwijk
exaly   +2 more sources

Changes in the Urinary Extracellular Vesicle Proteome Are Associated With Nephronophthisis-Related Ciliopathies

Journal of Proteomics, 2019
Nephronophthisis is one of the leading genetic causes of end-stage renal disease in childhood. Early diagnostics and prognostics for nephronophthisis are currently limited.
Rachel H Giles, Connie Jimenez, Irene V. Bijnsdorp   +2 more
exaly   +1 more source

Abnormal Integrin Receptor Expression in Two Cases of Familial Nephronophthisis

Histopathology, 1995
Familial nephronophthisis is one of the inherited human cystic kidney diseases and is characterized by progressive renal failure. We have investigated abnormalities of cell-matrix interactions using immunocytochemistry and electron microscopy in three ...
S Fleming
exaly   +2 more sources

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Nephronophthisis

The American Journal of Medicine, 1980
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands.
B T, Steele, D S, Lirenman, C W, Beattie
  +6 more sources

Juvenile Nephronophthisis.

Lancet, The, 1973
P R, Betts, I, Forrest-Hay
exaly   +3 more sources