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

373 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. Peeters S, et al. Among authors: mortier g. J Med Genet. 2021 Nov;58(11):778-782. doi: 10.1136/jmedgenet-2020-107085. Epub 2020 Sep 8. J Med Genet. 2021. PMID: 32900841
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.
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. Jackson GC, et al. Among authors: mortier gr. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429. J Med Genet. 2004. PMID: 14729835 Free PMC article. No abstract available.
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
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: mortier gr. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. Chitayat D, et al. Among authors: mortier g. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106
Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B. Buysse K, et al. Among authors: mortier g. Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041960
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. Van der Aa N, et al. Among authors: mortier g. Eur J Med Genet. 2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006. Epub 2009 Feb 26. Eur J Med Genet. 2009. PMID: 19249392
373 results