Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

249 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Oh J, et al. Among authors: heon e. Am J Hum Genet. 1998 Mar;62(3):593-8. doi: 10.1086/301757. Am J Hum Genet. 1998. PMID: 9497254 Free PMC article.
Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Among authors: heon e. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M. Camand O, et al. Among authors: heon e. Hum Mutat. 2001 Apr;17(4):352. doi: 10.1002/humu.38. Hum Mutat. 2001. PMID: 11295837
Mutational analysis of the OA1 gene in ocular albinism.
Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M. Camand O, et al. Among authors: heon e. Ophthalmic Genet. 2003 Sep;24(3):167-73. doi: 10.1076/opge.24.3.167.15605. Ophthalmic Genet. 2003. PMID: 12868035
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M. Mayeur H, et al. Among authors: heon e. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 Free PMC article.
In memoriam Maria Musarella.
Héon E, Levin A, MacDonald IM. Héon E, et al. Ophthalmic Genet. 2014 Sep;35(3):129. doi: 10.3109/13816810.2014.907922. Epub 2014 Apr 21. Ophthalmic Genet. 2014. PMID: 24749744 No abstract available.
249 results