Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract
AT van der Ven, A Vivante… - Journal of the American …, 2018 - journals.lww.com
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum
of congenital malformations ranging from severe manifestations, such as renal agenesis, to …
of congenital malformations ranging from severe manifestations, such as renal agenesis, to …
[HTML][HTML] Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
DY Hwang, GC Dworschak, S Kohl, P Saisawat… - Kidney international, 2014 - Elsevier
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately
half of children with chronic kidney disease. CAKUT can be caused by monogenic …
half of children with chronic kidney disease. CAKUT can be caused by monogenic …
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)
KY Renkema, PJ Winyard… - Nephrology dialysis …, 2011 - academic.oup.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of
chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include …
chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include …
Genetics of congenital anomalies of the kidney and urinary tract
R Song, IV Yosypiv - Pediatric nephrology, 2011 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births and
are a major cause of morbidity in children. Notably, CAKUT account for the most cases of …
are a major cause of morbidity in children. Notably, CAKUT account for the most cases of …
[HTML][HTML] A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
G Bullich, A Domingo-Gallego, I Vargas, P Ruiz… - Kidney international, 2018 - Elsevier
Molecular diagnosis of inherited kidney diseases remains a challenge due to their
expanding phenotypic spectra as well as the constantly growing list of disease-causing …
expanding phenotypic spectra as well as the constantly growing list of disease-causing …
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
C Shaw-Smith, AM Pittman, L Willatt, H Martin… - Nature …, 2006 - nature.com
Recently, the application of array-based comparative genomic hybridization (array CGH)
has improved rates of detection of chromosomal imbalances in individuals with mental …
has improved rates of detection of chromosomal imbalances in individuals with mental …
[HTML][HTML] Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
Most studies of genomic disorders have focused on patients with cognitive disability and/or
peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this …
peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this …
[引用][C] Multilocus polycystic disease
ST Reeders - Nature genetics, 1992 - nature.com
The cystic diseases of the kidney are a group of diverse inherited disorders with a single
feature in common: the presence offluid-filledepithelial cysts arising from nephrons. The …
feature in common: the presence offluid-filledepithelial cysts arising from nephrons. The …
The genetics and pathogenesis of CAKUT
CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …
malformations that arise from defective kidney or urinary tract development and frequently …
[HTML][HTML] Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
S Kohl, S Habbig, LT Weber, MC Liebau - Molecular and cellular …, 2021 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100 newborns
and as a group they represent the most frequent cause for chronic kidney failure in children …
and as a group they represent the most frequent cause for chronic kidney failure in children …