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Human Molecular Genetics|December 17, 2021
Haploinsufficiency of the mouse Tshz3 gene leads to kidney defectsIrene Sanchez-Martin, Pedro Magalhães, Parisa Ranjzad, et al.The American Journal of Pathology|December 7, 2006
Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney diseaseMiliyun G Chiu, Tanya M Johnson, Adrian S Woolf, et al.European Journal of Medical Genetics|June 15, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformationsRajesh Madhu, Glenda M Beaman, Kate E Chandler, et al.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.Pageof 24