Results 111 to 120 of about 114,162 (186)
Autosomal dominant polycystic kidney disease in children
Saudi Journal of Kidney Diseases and Transplantation, 2016 Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early.
Kiran Chandra Patro +2 more
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Reno-appendiceal fistula in autosomal dominant polycystic kidney disease
Urology Case Reports, 2021 We present a very rare Case of a 53-year-old female with autosomal dominant polycystic kidney disease (ADPKD) who was incidentally found to have a reno-appendiceal fistula while undergoing open bilateral nephrectomy.
Madison S. Hill +4 more
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Semi-Parametric Survival Estimation for pedigrees [PDF]
arXiv, 2016 Mendelian diseases are determined by a single mutation in a given gene. However, in the case of diseases with late onset, the age at onset is variable; it can even be the case that the onset is not observed in a lifetime. Estimating the survival function of the mutation carriers and the effect of modifying factors such as the sex, mutation, origin, etc,
arxiv
Autophagy and Autosomal Dominant Polycystic Kidney Disease
Turkish Journal of Nephrology, 2023 Özgür Akın Oto, Charles L. Edelstein
doaj +1 more source
3D Kidneys and Kidney Tumor Semantic Segmentation using Boundary-Aware Networks [PDF]
MICCAI Kidney Tumor Segmentation Challenge 2019, 2019 Automated segmentation of kidneys and kidney tumors is an important step in quantifying the tumor's morphometrical details to monitor the progression of the disease and accurately compare decisions regarding the kidney tumor treatment. Manual delineation techniques are often tedious, error-prone and require expert knowledge for creating unambiguous ...
arxiv
Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics [PDF]
arXivGenetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-function, or dominant-negative effects, while autosomal recessive diseases are primarily linked to loss-of-function variants. In this study,
arxiv
Prediction of Kidney Function from Biopsy Images Using Convolutional Neural Networks [PDF]
arXiv, 2017 A Convolutional Neural Network was used to predict kidney function in patients with chronic kidney disease from high-resolution digital pathology scans of their kidney biopsies. Kidney biopsies were taken from participants of the NEPTUNE study, a longitudinal cohort study whose goal is to set up infrastructure for observing the evolution of 3 forms of ...
arxiv
Fast Genome-Wide QTL Analysis Using Mendel [PDF]
arXiv, 2014 Pedigree GWAS (Option 29) in the current version of the Mendel software is an optimized subroutine for performing large scale genome-wide QTL analysis. This analysis (a) works for random sample data, pedigree data, or a mix of both, (b) is highly efficient in both run time and memory requirement, (c) accommodates both univariate and multivariate traits,
arxiv
Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]
, 2018 Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
core
Мать и дитя в Кузбассе, 2022 The relevance of the problem of autosomal dominant polycystic kidney disease in childhood is due to age-related features of the formation of renal cysts and clinical manifestations, the frequent development of arterial hypertension syndrome and ...
Андрей Васильевич Налетов +3 more
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