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Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li +6 more
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Intracranial aneurysms in autosomal dominant polycystic kidney disease [PDF]
Kosin Medical JournalBackground The incidence of intracranial aneurysms (ICA) is high in patients with autosomal dominant polycystic kidney disease (ADPKD). However, little is known regarding the optimal screening and treatment methods for ICA.
Jung Hyun Park
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MicroRNAs and Polycystic Kidney Disease
, 2015 MicroRNAs (miRNAs) are a class of small non protein-coding RNAs that function as inhibitors of post-transcriptional gene expression in plants and animals. Over a thousand different miRNAs are known to be encoded by the human genome, the majority of which
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Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Autosomal Dominant Polycystic Kidney Disease: What Do We Need To Know For Counselling? [PDF]
, 2014 In the new millennium, few kidney diseases changed their perspectives as much as autosomal dominant polycystic kidney disease (ADPKD). New diagnostic approaches, including the evaluation of renal or liver volume by computerised tomography (CT) scan, the ...
Federica Solitro +9 more
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Case Reports in Urology, 2014 The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra +3 more
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Treatment prospects for autosomal-dominant polycystic kidney disease [PDF]
, 2001 Treatment prospects for autosomal-dominant polycystic kidney disease. An increased understanding of the molecular genetic and cellular pathophysiologic mechanisms responsible for the development of autosomal-dominant polycystic kidney disease (ADPKD ...
Harris, Peter C. +2 more
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Autophagy and Autosomal Dominant Polycystic Kidney Disease
Turkish Journal of Nephrology, 2023 Özgür Akın Oto, Charles L. Edelstein
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Genetics of Autosomal Dominant Polycystic Kidney Disease
Turkish Journal of Nephrology, 2019 -
Kıvanç ÇEFLE
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Progress on Autosomal Dominant Polycystic Kidney Disease [PDF]
, 2010 Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common life threatening hereditary disease of the kidney. It is a systemic disease characterized by multiple, bilateral renal cysts that result in massive renal enlargement ...
Schrier, R +5 more
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