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
41 results
  1. Bardet-Biedl syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome
    ... gov Catalog of Genes and Diseases from OMIM BARDET-BIEDL SYNDROME 1; BBS1 Scientific Articles on PubMed PubMed References Ansley SJ, Badano JL, Blacque OE, Hill J, ...
  2. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... heterozygous pathogenic variants act as modifier alleles in Bardet-Biedl syndrome [ Lindstrand et al 2014 ]. Table 4. NPHP1 Pathogenic Variants Discussed in This GeneReview View in own window DNA Nucleotide Change Predicted Protein Change Reference Sequences 290-kb deletion including entire gene NM ​_ ...
  3. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Review Bardet-Biedl Syndrome Overview [GeneReviews ® . 1993] Review Bardet-Biedl Syndrome Overview Forsyth RL, Gunay-Aygun M. GeneReviews®. 1993 Review Leber Congenital Amaurosis – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY [GeneReviews ® . 1993] Review Leber Congenital Amaurosis – ARCHIVED ...
  4. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... Databases HGMD ClinVar MKKS 20p12 ​.2 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Retina International Mutations of the McKusick-Kaufman Gene (MKKS) MKKS MKKS Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  5. McKusick-Kaufman syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome
    ... KAUFMAN SYNDROME; MKKS Scientific Articles on PubMed PubMed References David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet. 1999 Aug;36(8):599- ...
  6. MKKS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mkks
    ... Bardet-Biedl syndrome MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition ... References Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito ...
  7. BBS10 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bbs10
    ... BBS10 Gene and Variant Databases NCBI Gene ... an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three ...
  8. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... Alstrom syndrome National Library of Medicine Genetics Home ... Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome (see Farmer et al [2013]) ww.registry. ...
  9. BBS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bbs1
    ... BBS1 Gene and Variant Databases NCBI Gene ... at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May;72(5): ...
  10. CEP290 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cep290
    ... Leber congenital amaurosis. More About This Health Condition Bardet-Biedl syndrome MedlinePlus Genetics provides information about Bardet-Biedl syndrome ...
first · previous · 1 · 2 · 3 · 4 · next · last