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
1,061 results
  1. Adams-Oliver syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome
    ... with no history of the disorder in their family. When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive ...
  2. Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... Sikora J, Zivny J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
  3. REN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ren
    ... Sikora J, Zivny J, Sovova J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
  4. REN-related kidney disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/ren-related-kidney-disease
    ... Sikora J, Zivny J, Sovova J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
  5. Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1548
    ... Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical ... CA. New genes and/or molecular pathways associated with adrenal hyperplasias ...
  6. TFR2-Related Hereditary Hemochromatosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1349
    ... A new member of the transferrin receptor-like family. J Biol Chem. ... sequencing gene panel. Eur J Haematol. 2017; 98 :228–34. [ ...
  7. IDUA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/idua
    ... L-IDURONIDASE; IDUA Gene and Variant Databases NCBI Gene ClinVar References Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel ...
  8. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... Ptacek LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002; 52 :654–7. [ PubMed : 12402266 ] Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is ...
  9. SLC52A2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc52a2
    ... of Genes and Diseases from OMIM SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; ... Deficiency. 2015 Jun 11 [updated 2021 Apr 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace ...
  10. PRRT2-Associated Paroxysmal Movement Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475803
    ... PMC PubMed Central citations PubMed Links to ... and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last