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

374 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Thienpont B, et al. Among authors: mortier g. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493459 Free PMC article.
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ. Wuyts W, et al. Among authors: mortier g. Am J Hum Genet. 1998 Feb;62(2):346-54. doi: 10.1086/301726. Am J Hum Genet. 1998. PMID: 9463333 Free PMC article.
The annual incidence of DiGeorge/velocardiofacial syndrome.
Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. Devriendt K, et al. Among authors: mortier g. J Med Genet. 1998 Sep;35(9):789-90. doi: 10.1136/jmg.35.9.789-a. J Med Genet. 1998. PMID: 9733045 Free PMC article. No abstract available.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: mortier g. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854
374 results