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

23 results

  1. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Management of Nephronophthisis-Related Ciliopathies Genetic Counseling of Nephronophthisis-Related Ciliopathies Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Gunay-Aygun M, Gahl WA, Heller T. GeneReviews(®). 1993 Review Nephronophthisis-Related Ciliopathies. [GeneReviews(®). 1993] Review Nephronophthisis-Related Ciliopathies. ...
  3. Kidney Cyst | Polycystic Kidney Disease | MedlinePlus 
    https://medlineplus.gov/kidneycysts.html
    ... type 1: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  4. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or ... 
    https://www.ncbi.nlm.nih.gov/books/NBK541231
    ... Cree and/or Ojibway descent (from region specified). ... M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and ...
  5. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... skin, hair, nails, & teeth Dental anomalies Dental eval Nephronophthisis Urinalysis (first AM void) (& optional 24-hour urine ... or oligodontia may limit aesthetic, functional, & psychological issues. Nephronophthisis Treatment per nephrologist Renal transplantation is an option ...
  6. Kidney Failure 
    https://medlineplus.gov/kidneyfailure.html
    Healthy kidneys clean your blood by removing excess from your body. But if kidneys are damaged, they won't work properly. Read about the treatments. ... Healthy kidneys ...
  7. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... NPH-related genes incl: NPHP2 NPHP3 TMEM67 12 Nephronophthisis-related ciliopathies AR 12 Infantile NPH: moderately enlarged ... of the young; MOI = mode of inheritance ; NPH = nephronophthisis; PKD = polycystic kidney disease 1. Kääriäinen et al [ ...
  8. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... later develop other systemic issues, particularly kidney disease. Nephronophthisis with subsequent end-stage kidney disease can be ... abnormalities Characteristic MRI appearance incl "molar tooth sign" Nephronophthisis in later childhood Zellweger spectrum disorder 13 genes ...
  9. Autosomal Dominant Tubulointerstitial Kidney Disease – REN - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis (NPH) AR Tubulointerstitial kidney disease; often seen in ... represent the most common genetic causes of isolated nephronophthisis. Other genes known to be associated with nephronophthisis ...
  10. Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1356
    ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis AR TKD, often seen in childhood; may be ... represent the most common genetic causes of isolated nephronophthisis. Other genes known to be associated with nephronophthisis ...
previous · 1 · 2 · next