Results 131 to 140 of about 43,436 (236)

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Scientific Reports, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes.
Hamad Ali, F. Al-Mulla, N. Hussain, Medhat Naim, A. Asbeutah, A. Alsahow, Mohamed Abu-Farha, J. Abubaker, A. Al Madhoun, Sajjad Ahmad, P. Harris   +10 more
semanticscholar   +1 more source

Genetics of Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2019
-
Kıvanç ÇEFLE
doaj  

The Longitudinal Study of Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease

Kidney International Reports, 2017
Although polycystic liver disease (PCLD) is one of the extrarenal complications in patients with autosomal dominant polycystic kidney disease (ADPKD), longitudinal changes and the association with total liver volume (TLV) have not been clearly elucidated
Ryo Matsuura, Kenjiro Honda, Yoshifumi Hamasaki, Kent Doi, Eisei Noiri, Masaomi Nangaku   +5 more
doaj   +1 more source

Autosomal-dominante polyzystische Nierenerkrankung [PDF]

, 2018
Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) stellt die häufigste genetische Nierenerkrankung dar und ist eine der häufigsten menschlichen Erberkrankungen überhaupt.
Serra, A.L., Wüthrich, R.P.
core  

Hereditary Renal Cystic Diseases

Turkish Journal of Nephrology, 2019
Polycystic kidney disease is one of the most common reasons of end stage renal failure. Polycystic kidney disease may result from many etiological factors, but frequently arises hereditarily.
Alper UZAK, M. Deniz AYLI
doaj  

Estudo de ligação molecular do rim policístico do adulto (ADPKD) com primers do cromossomo 16 (PKD1) e 4 (PKD2). [PDF]

, 1998
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Ferreira, Fernando Romariz
core  

Echocardiographic characteristics of autosomal dominant polycystic kidney disease

Scientific Reports
Cardiovascular complications in patients with autosomal dominant polycystic kidney disease (ADPKD) are frequently investigated extrarenal manifestations with contradictory outcomes.
Agata Koska-Ścigała, Hanna Jankowska, Magdalena Jankowska, Maria Dudziak, Marcin Hellmann, Alicja Dębska-Ślizień   +5 more
doaj   +1 more source

Insights into autosomal dominant polycystic kidney disease by quantitative mass spectrometry-based proteomics [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenetic disorder that is caused by mutations in the genes PKD1 and PKD2 encoding polycystin-1 and polycystin-2, respectively.
Dengjel, Jörn, Diedrich, Britta
core  

Renal Manifestations of Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2019
-
Ali Rıza ODABAŞ
doaj  

Vasopressin-2 receptor antagonists in autosomal dominant polycystic kidney disease: from man to mouse and back [PDF]

, 2016
nephropathy, with an esti-mated prevalence of 1:1000. The disease is characterized by the development of multiple cysts from all nephron segments leading to the enlargement of both kidneys and replacement of normal parenchyma (see [1]).
Devuyst, Olivier, Serra, Andreas, Wang, Xueqi   +2 more
core