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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 2
2000 1
2001 1
2003 1
2008 1
2010 1
2011 1
2015 1
2018 1
2019 1
2021 1
2022 1
2023 0

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Page 1
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM. Park SJ, et al. Pediatr Nephrol. 2019 Sep;34(9):1493-1500. doi: 10.1007/s00467-018-4031-2. Epub 2018 Aug 11. Pediatr Nephrol. 2019. PMID: 30099615 Free PMC article. Review.
Mutations in nephrin (NPHS1), podocin (NPHS2), laminin beta2 (LAMB2), and alpha-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV alpha chains (COL4A …
Mutations in nephrin (NPHS1), podocin (NPHS2), laminin beta2 (LAMB2), and alpha-actinin-4 (ACTN4) have been shown to induce ER stress in HEK …
The causes and consequences of paediatric kidney disease on adult nephrology care.
Pepper RJ, Trompeter RS. Pepper RJ, et al. Pediatr Nephrol. 2022 Jun;37(6):1245-1261. doi: 10.1007/s00467-021-05182-w. Epub 2021 Aug 13. Pediatr Nephrol. 2022. PMID: 34389906 Review.
This review discusses common causes of childhood CKD, in particular congenital anomalies of the kidney and urinary tract (CAKUT), autosomal dominant tubulointerstitial kidney disease (ADTKD), polycystic kidney disease, hereditary stone disease, nephrotic …
This review discusses common causes of childhood CKD, in particular congenital anomalies of the kidney and urinary tract (CAKUT), autosom …
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.
Winn MP. Winn MP. Nephrol Dial Transplant. 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. Nephrol Dial Transplant. 2003. PMID: 12953036 Review.
FSGS has been characterized previously as having primary (idiopathic), secondary and familial forms. In the latter category, both autosomal recessive and dominant inheritance patterns have been reported. ...Recently, the genetic mutation (ACTN4) causing a form of …
FSGS has been characterized previously as having primary (idiopathic), secondary and familial forms. In the latter category, both autosom …
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A. Deltas C, et al. Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17. Nephron. 2015. PMID: 26201269 Review.
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is caused by he …
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alpor …
Hereditary disorders of the glomerular basement membrane.
Smeets HJ, Knoers VV, van de Heuvel LP, Lemmink HH, Schröder CH, Monnens LA. Smeets HJ, et al. Pediatr Nephrol. 1996 Dec;10(6):779-88. doi: 10.1007/s004670050217. Pediatr Nephrol. 1996. PMID: 8971907 Review.
Some patients with familial benign hematuria have an abnormality of COl4A4. The nail-patella syndrome is a rare autosomal dominant disorder defined by the association of nail dysplasia, bone abnormalities, and frequently renal disease. ...The Finnish type is …
Some patients with familial benign hematuria have an abnormality of COl4A4. The nail-patella syndrome is a rare autosomal d …
Living donor kidney transplantation in patients with hereditary nephropathies.
Niaudet P. Niaudet P. Nat Rev Nephrol. 2010 Dec;6(12):736-43. doi: 10.1038/nrneph.2010.122. Epub 2010 Sep 28. Nat Rev Nephrol. 2010. PMID: 20877305 Review.
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and Alport syndrome-can progress to end-stage renal disease (ESRD) and are candidates for kidney transplantation. ...Renal transpl …
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disea …
Nail-patella syndrome and renal involvement. Description of three cases and literature review.
Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R. Granata A, et al. Clin Nephrol. 2008 May;69(5):377-82. doi: 10.5414/cnp69377. Clin Nephrol. 2008. PMID: 18538102 Review.
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. ...Renal involvement occurs in 30-60% of patients and presents with proteinuria and/or microscopic hematuria, edema, hypertension. Progression …
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. .. …
[Recent developments in genetic kidney diseases].
Liebau MC, Benzing T. Liebau MC, et al. Dtsch Med Wochenschr. 2011 May;136(19):1014-20. doi: 10.1055/s-0031-1275836. Epub 2011 May 3. Dtsch Med Wochenschr. 2011. PMID: 21544793 Review. German.
In this way various clinical multicenter trials, which are based on the observations made in basic science have been established for the very common autosomal dominant polycystic kidney disease. Furthermore, the influence of genetic aspects on frequent kidney diseas …
In this way various clinical multicenter trials, which are based on the observations made in basic science have been established for the ver …
[Pathogenesis and clinical course of hereditary nephropathies].
Lhotta K. Lhotta K. Acta Med Austriaca. 2001;28(3):78-80. doi: 10.1046/j.1563-2571.2001.01018.x. Acta Med Austriaca. 2001. PMID: 11475106 Review. German.
Of central interest are hereditary cystic kidney diseases with autosomal dominant polycystic kidney disease as its most prominent example. Hereditary forms of the nephrotic syndrome are usually caused by abnormalities of podocyte function …
Of central interest are hereditary cystic kidney diseases with autosomal dominant polycystic kidney disease as its most …
Membranoproliferative glomerulonephritis in two siblings: report and literature review.
Bogdanović RM, Dimitrijević JZ, Nikolić VN, Ognjanović MV, Rodić BD, Slavković BV. Bogdanović RM, et al. Pediatr Nephrol. 2000 May;14(5):400-5. doi: 10.1007/s004670050782. Pediatr Nephrol. 2000. PMID: 10805468 Review.
In the male sibling, both clinical and morphological features as well as serum complement profile suggested type I MPGN; electron microscopy appearance in the female sibling was consistent with type III MPGN. Both patients had treatment-resistant nephrotic syndrome …
In the male sibling, both clinical and morphological features as well as serum complement profile suggested type I MPGN; electron microscopy …
12 results