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
56 results
  1. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1334
    ... own window Syndrome Genetic Mechanism / Associated Gene Phenotype Reference Bardet-Biedl syndrome Pathogenic variants in of one of 19 genes ...
  2. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... Counseling of Family Members of an Individual with Bardet-Biedl Syndrome Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the La Réunion ... 
    https://www.ncbi.nlm.nih.gov/books/NBK587320
    ... 2 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ARL6 Bardet-Biedl syndrome AR c.535G>A 3 (IVS9-1G>A) -- ~ ...
  4. 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, ...
  5. NLM Digital Collections - Aneurysm of the Abdominal Aorta 
    https://resource.nlm.nih.gov/101662437X836
    ... 8. 29. Sundar PS, Sialy R, Dash RJ. Bardet Biedl syndrome: a case report with special reference to studies on hypothalamo-pituitary testicular axis. J ...
  6. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Review Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Weleber RG, Francis PJ, Trzupek KM, Beattie C. GeneReviews(®). 1993 Review Bardet-Biedl Syndrome Overview. [GeneReviews(®). 1993] Review Bardet-Biedl Syndrome Overview. ...
  7. 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- ...
  8. 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 ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Newfoundland ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556454
    ... 2 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References APC Familial adenomatous polyposis, attenuated AD c.221-1G>A (IVS2-1G>A) -- ~80% NA Newfoundland NM_00038 ​.6 Spirio et al [1999] , Woods et al [2010] BBS1 Bardet-Biedl syndrome AR c.1169T>G p.Met390Arg ~100% 3 ...
  10. 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 ...
first · previous · 1 · 2 · 3 · 4 · 5 · next · last