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24 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. 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 ...
  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. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... for polydactyly and symptomatic ptosis and/or strabismus. Nephronophthisis, end-stage kidney disease, liver failure and/or ... 2012 ] 21. May be higher in individuals with nephronophthisis 22. Homozygous deletions have been associated with rare ...
  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. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... IQCB1 NPHP1 NPHP3 NPHP4 TMEM67 (≥19 genes) 6 Nephronophthisis AR Corticomedullary cysts; normal or small-sized kidneys ( ... type); urinary concentrating & sodium reabsorption defect; progressive CKD Nephronophthisis may be isolated or part of a syndrome, ...
  10. Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK153723
    ... kidney disease or the group of disorders termed " nephronophthisis " (see Table 2 ). Renal Imaging Renal imaging should ... NPHP1 NPHP3 NPHP4 TMEM67 (19 genes 1 ) Isolated nephronophthisis (NPH) AR Tubulointerstitial kidney disease; often seen in ...
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