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

251 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: smeets hj. Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090. Hum Mutat. 2009. PMID: 19603532 Free PMC article.
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Solomon BD, et al. Among authors: smeets hj. J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955556 Free PMC article.
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: smeets hj. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Virus-Associated CD8+ T-Cells Are Not Activated Through Antigen-Mediated Interaction Inside Atherosclerotic Lesions.
de Jong MJM, Schaftenaar FH, Depuydt MAC, Lozano Vigario F, Janssen GMC, Peeters JAHM, Goncalves L, Wezel A, Smeets HJ, Kuiper J, Bot I, van Veelen P, Slütter B. de Jong MJM, et al. Among authors: smeets hj. Arterioscler Thromb Vasc Biol. 2024 Mar 21. doi: 10.1161/ATVBAHA.123.320539. Online ahead of print. Arterioscler Thromb Vasc Biol. 2024. PMID: 38511327 Free article.
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Mertens J, Belva F, van Montfoort APA, Regin M, Zambelli F, Seneca S, Couvreu de Deckersberg E, Bonduelle M, Tournaye H, Stouffs K, Barbé K, Smeets HJM, Van de Velde H, Sermon K, Blockeel C, Spits C. Mertens J, et al. Among authors: smeets hjm. Nat Commun. 2024 Feb 9;15(1):1232. doi: 10.1038/s41467-024-45446-1. Nat Commun. 2024. PMID: 38336715 Free PMC article.
Wnt7a Decreases Brain Endothelial Barrier Function Via β-Catenin Activation.
Manukjan N, Chau S, Caiment F, van Herwijnen M, Smeets HJ, Fulton D, Ahmed Z, Blankesteijn WM, Foulquier S. Manukjan N, et al. Among authors: smeets hj. Mol Neurobiol. 2023 Dec 26. doi: 10.1007/s12035-023-03872-0. Online ahead of print. Mol Neurobiol. 2023. PMID: 38147228
251 results