Mortier G - Search Results

1

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach.

De Vos M, Poppe B, Delvaux I, Mortier G, Claes K, Messiaen L, De Paepe A. De Vos M, et al. Among authors: mortier g. Dis Markers. 1999 Oct;15(1-3):191-5. doi: 10.1155/1999/809125. Dis Markers. 1999. PMID: 10595277 Free PMC article.

2

[The Ehlers-Danlos and Marfan syndromes in young children].

De Paepe A, Van den Bossche H, Mortier G, Matton M. De Paepe A, et al. Among authors: mortier g. J Genet Hum. 1988 Jun;36(3):247-53. J Genet Hum. 1988. PMID: 3411305 French.

3

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Messiaen L, Callens T, De Paepe A, Craen M, Mortier G. Messiaen L, et al. Among authors: mortier g. Hum Genet. 1997 Nov;101(1):75-80. doi: 10.1007/s004390050590. Hum Genet. 1997. PMID: 9385374

4

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM. Mortier GR, et al. Pediatr Radiol. 1998 Oct;28(10):790-3. doi: 10.1007/s002470050466. Pediatr Radiol. 1998. PMID: 9799302

5

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Wilkin DJ, Mortier GR, Johnson CL, Jones MC, de Paepe A, Shohat M, Wildin RS, Falk RE, Cohn DH. Wilkin DJ, et al. Among authors: mortier gr. Am J Med Genet. 1998 Nov 2;80(2):121-7. Am J Med Genet. 1998. PMID: 9805127

6

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.

Claes K, Machackova E, De Vos M, Mortier G, De Paepe A, Messiaen L. Claes K, et al. Among authors: mortier g. Hum Mutat. 1999;13(3):256. doi: 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M. Hum Mutat. 1999. PMID: 10090482

7

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.

8

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Messiaen LM, et al. Among authors: mortier g. Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10862084

9

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Messiaen LM, Callens T, Roux KJ, Mortier GR, De Paepe A, Abramowicz M, Pericak-Vance MA, Vance JM, Wallace MR. Messiaen LM, et al. Among authors: mortier gr. Genet Med. 1999 Sep-Oct;1(6):248-53. doi: 10.1097/00125817-199909000-00002. Genet Med. 1999. PMID: 11258625 Free article.

10

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

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