Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

The Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient’s phenotype, by mining OMIM for gene entries that contain a Clinical ...

The approach should be individualized to each patient, says Dr. David Charytan of the NYU Grossman School of Medicine. Here's why. (3:28) Before receiving a kidney transplant, patients with autosomal ...

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...

In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V 2-receptor antagonist ...

Terms like "autosomal recessive" and "dominant" are frequently tossed around, and you've probably heard them. But what does any of that really mean regarding the traits that children inherit from ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...

Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...

Please provide your email address to receive an email when new articles are posted on . Infection rates stayed within International Society for Peritoneal Dialysis guideline thresholds during the ...