Results 71 to 80 of about 617,774 (332)
Nature Genetics, 2013 Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts.
Andrew W. Kirby +42 more
semanticscholar +1 more source
Fighting time: A qualitative analysis on the impact of lung transplantation in adults with Cystic Fibrosis [PDF]
, 2001 During the last decade lung transplantation has become an option for those with end-stage respiratory disease, including Cystic Fibrosis. However, there appears to have been very little written about the experiences of those who are on the lung ...
McCarthy, Janet Mary
core
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
, 2018 The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the ...
Robert C. Albright +35 more
core +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Acquired cystic kidney disease in allograft with long-standing poor function
Brazilian Journal of NephrologyAcquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion.
Leonardo Cardili +2 more
doaj +1 more source
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Nature Reviews Nephrology, 2016 Mitochondria are increasingly recognized as key players in genetic and acquired renal diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by tubular defects, but glomerular, tubulointerstitial and cystic diseases have ...
F. Emma +3 more
semanticscholar +1 more source
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
core +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source