Disease: Bilateral renal agenesis dominant type
- A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
- A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
- A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
- A rare case of unprovoked venous thromboembolism manifestation in a young patient with antithrombin Type IIB deficiency combined with inferior vena cava anomaly from Lithuania
- Alport Syndrome
- Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature
- Branchiootorenal Spectrum Disorder
- Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene
- Hypertension in autosomal dominant polycystic kidney disease
- Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing
- Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis
- Ovarian steroid cell tumor associated with von Hippel-Lindau syndrome: a report of two cases and literature review
- Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
- Renal anomalies in families of individuals with congenital solitary kidney
- Review of renal oncocytosis (multiple oncocytic lesions) with focus on clinical and pathobiological aspects
- Targeted next-generation sequencing in a large series of fetuses with severe renal diseases
- The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome)