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Kidney International Reports|July 13, 2023
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder DiseaseCeline Grenier, Filipa M Lopes, Anna M Cueto-González, et al.American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.Journal of the American Society of Nephrology : JASN|May 13, 2005
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failureDagan Jenkins, Maria Bitner-Glindzicz, Sue Malcolm, et al.Journal of Pediatric Urology|May 4, 2007
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformationsDagan Jenkins, Maria Bitner-Glindzicz, Louise Thomasson, et al.Stem Cell Reports|May 24, 2024
Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformationsIoannis Bantounas, Kirsty M Rooney, Filipa M Lopes, et al.Kidney International|March 29, 2002
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutationsCoralie Bingham, Sian Ellard, Trevor R P Cole, et al.The Journal of Pathology|August 21, 2018
Vangl2, a planar cell polarity molecule, is implicated in irreversible and reversible kidney glomerular injuryEugenia Papakrivopoulou, Elisavet Vasilopoulou, Maja T Lindenmeyer, et al.Scientific Reports|September 3, 2015
Measures of kidney function by minimally invasive techniques correlate with histological glomerular damage in SCID mice with adriamycin-induced nephropathyLauren Scarfe, Aleksandra Rak-Raszewska, Stefania Geraci, et al.Pediatric Nephrology (Berlin, Germany)|March 6, 2015
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney diseaseRachel Lennon, Helen M Stuart, Agnieszka Bierzynska, et al.Pageof 31