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

353 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium; Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Moffatt P, et al. Among authors: paterson ad. Am J Hum Genet. 2013 Feb 7;92(2):252-8. doi: 10.1016/j.ajhg.2012.12.001. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290074 Free PMC article.
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement.
Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. Little J, et al. Hum Genet. 2009 Mar;125(2):131-51. doi: 10.1007/s00439-008-0592-7. Epub 2009 Feb 1. Hum Genet. 2009. PMID: 19184668 Free article.
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes.
Hayward CP, Liang M, Tasneem S, Soomro A, Waye JS, Paterson AD, Rivard GE, Wilson MD. Hayward CP, et al. Among authors: paterson ad. PLoS One. 2017 Mar 16;12(3):e0173991. doi: 10.1371/journal.pone.0173991. eCollection 2017. PLoS One. 2017. PMID: 28301587 Free PMC article.
NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.
Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, Lam GY, Hu P, Murchie R, Sherlock M, Gana JC; NEOPICS; Russell RK, Glogauer M, Duerr RH, Cho JH, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Silverberg MS, Brumell JH. Muise AM, et al. Among authors: paterson ad. Gut. 2012 Jul;61(7):1028-35. doi: 10.1136/gutjnl-2011-300078. Epub 2011 Sep 7. Gut. 2012. PMID: 21900546 Free PMC article.
353 results