Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
13 results
  1. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... hypogenitalism 11 TTC21B NPHP12 <1% Infantile, juvenile Neurologic symptoms, liver dz, situs inversus, skeletal anomalies 8 WDR19 NPHP13 <1% Infantile, juvenile RP, liver dz (esp Caroli disease), pancreas anomalies, skeletal anomalies ZNF423 NPHP14 <1% Infantile ...
  2. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... of biliary ductal plate remodeling (also known as Caroli disease). Although the short-term and long-term mortality ... molecular diagnosis of ARPKD- PKHD1 is ...
  3. Excluded studies - Dementia - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536486
    ... participants do not have suspected dementia at baseline. Caroli ... diagnosis Crawford (2012) A systematic review of the accuracy ...
  4. Excluded studies - Gallstone Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327515
    ... 2014 Oct. (NICE Clinical Guidelines, No. 188.) Gallstone Disease: Diagnosis and Management of Cholelithiasis, Cholecystitis and Choledocholithiasis. Show ...
  5. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... variants in WDR19 are also associated with CED.) Caroli disease (OMIM 600643 ) is characterized by polycystic liver disease ... Boycott KM, Dyment DA. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ. 2016; ...
  6. Excluded References - Diagnosis and Treatment of Clinical Alzheimer’s-Type Dementia: A Systematic Review - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556577
    ... a behavioral cognitive marker for differential Alzheimer’s disease diagnosis. The Journal of Neuroscience. 2012 Feb;32(6): ... Subclass-based multi-task learning for Alzheimer’s disease diagnosis. Frontiers in Aging Neuroscience. 2014;6 (AUG) (no ...
  7. Reasons for Exclusion - Management of Uterine Fibroids - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK537733
    ... Marut EL. Etiology and pathophysiology of fibroid tumor disease: diagnosis and current medical and surgical treatment alternatives. Obstet ... fibroids: short-term versus mid-term changes in disease-specific symptoms, quality of life and magnetic resonance imaging results. ...
  8. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... in infancy; individuals with mosaicism can have milder disease. Differential Diagnosis In the absence of a family history of ... Polycystic Liver Disease Most individuals with polycystic liver disease (PLD) have no symptoms and require no treatment. The treatment of symptomatic ...
  9. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney ...
  10. Glycogen Storage Disease Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1312
    ... Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr. 2002; ... Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the ...
previous · 1 · 2 · next