Mortier GR - Search Results

1

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Hoornaert KP, et al. Among authors: mortier gr. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726487

2

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al. Briggs MD, et al. Among authors: mortier gr. Nat Genet. 1995 Jul;10(3):330-6. doi: 10.1038/ng0795-330. Nat Genet. 1995. PMID: 7670472

3

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: mortier gr. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

4

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

5

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Verloes A, et al. Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10706363

6

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

7

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Mortier G, Nuytinck L, Craen M, Renard JP, Leroy JG, de Paepe A. Mortier G, et al. J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220. J Med Genet. 2000. PMID: 10777366 Free PMC article. No abstract available.

8

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Vanzieleghem BD, Lemmerling MM, Vermeersch HF, Govaert P, Dhooge I, Meire F, Mortier GR, Leroy J, Kunnen MF. Vanzieleghem BD, et al. Among authors: mortier gr. J Comput Assist Tomogr. 2001 Jul-Aug;25(4):540-9. doi: 10.1097/00004728-200107000-00006. J Comput Assist Tomogr. 2001. PMID: 11473183

9

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

Mortier GR, Chapman K, Leroy JL, Briggs MD. Mortier GR, et al. Eur J Hum Genet. 2001 Aug;9(8):606-12. doi: 10.1038/sj.ejhg.5200690. Eur J Hum Genet. 2001. PMID: 11528506

10

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Loeys B, et al. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113. Hum Mol Genet. 2002. PMID: 12189163

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

259 results

Search Page