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
31 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. Nephronophthisis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... 14; NPHP14 NEPHRONOPHTHISIS 18; NPHP18 NEPHRONOPHTHISIS 12; NPHP12 NEPHRONOPHTHISIS 9; NPHP9 Scientific Articles on PubMed PubMed References Benzing T, Schermer B. Clinical spectrum and pathogenesis ...
  3. Joubert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 Scientific Articles on PubMed PubMed References Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome ...
  4. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... Gene JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ... References Fliegauf M, Horvath J, von Schnakenburg C, Olbrich ...
  5. Senior-Løken syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... SYNDROME 7; SLSN7 Scientific Articles on PubMed PubMed References Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 ...
  6. Kidney Failure 
    https://medlineplus.gov/kidneyfailure.html
    ... Fibronectin glomerulopathy: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  7. 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 ...
  8. 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 ...
  9. 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 ...
  10. WDR19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/wdr19
    ... Asphyxiating thoracic dystrophy More About This Health Condition Nephronophthisis MedlinePlus Genetics provides information about Nephronophthisis More About ...
previous · 1 · 2 · 3 · next