Legius E - Search Results

1

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

de Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, de Wever I, Schöffski P, Marynen P, Legius E. de Raedt T, et al. Among authors: legius e. Gastroenterology. 2006 Dec;131(6):1907-12. doi: 10.1053/j.gastro.2006.07.002. Gastroenterology. 2006. PMID: 17087943

2

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

Legius E, Baten E, Stul M, Marynen P, Cassiman JJ. Legius E, et al. Clin Genet. 1990 Aug;38(2):155-9. doi: 10.1111/j.1399-0004.1990.tb03565.x. Clin Genet. 1990. PMID: 2208768

3

Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families.

Cuppens H, Legius E, Cabello P, Marynen P, De Boeck C, Decorte R, Fryns JP, Eggermont E, Van den Berghe H, Cassiman JJ. Cuppens H, et al. Among authors: legius e. Hum Genet. 1990 Sep;85(4):402-3. doi: 10.1007/BF02428277. Hum Genet. 1990. PMID: 2210747

4

TP53 mutations are frequent in malignant NF1 tumors.

Legius E, Dierick H, Wu R, Hall BK, Marynen P, Cassiman JJ, Glover TW. Legius E, et al. Genes Chromosomes Cancer. 1994 Aug;10(4):250-5. doi: 10.1002/gcc.2870100405. Genes Chromosomes Cancer. 1994. PMID: 7522538

5

Increased and decreased relative risk for non-insulin-dependent diabetes mellitus conferred by HLA class II and by CD4 alleles.

Ghabanbasani MZ, Spaepen M, Buyse I, Legius E, Decorte R, Bex M, Marynen P, Bouillon R, Cassiman JJ. Ghabanbasani MZ, et al. Among authors: legius e. Clin Genet. 1995 May;47(5):225-30. doi: 10.1111/j.1399-0004.1995.tb04301.x. Clin Genet. 1995. PMID: 7554346

6

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Ruiz JC, Cuppens H, Legius E, Fryns JP, Glover T, Marynen P, Cassiman JJ. Ruiz JC, et al. Among authors: legius e. J Med Genet. 1995 Jul;32(7):549-52. doi: 10.1136/jmg.32.7.549. J Med Genet. 1995. PMID: 7562969 Free PMC article.

7

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ. Legius E, et al. J Med Genet. 1995 Apr;32(4):316-9. doi: 10.1136/jmg.32.4.316. J Med Genet. 1995. PMID: 7643367 Free PMC article.

8

Neurofibromatosis type 1.

Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H. Legius E, et al. Genet Couns. 1994;5(3):225-41. Genet Couns. 1994. PMID: 7811422 Review.

9

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Ruiz JC, Legius E, Cuppens H, Moens P, Marynen P, Cassiman JJ. Ruiz JC, et al. Among authors: legius e. Clin Genet. 1994 Sep;46(3):257-9. doi: 10.1111/j.1399-0004.1994.tb04237.x. Clin Genet. 1994. PMID: 7820941

10

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).

Legius E, Cuppens H, Dierick H, Van Zandt K, Dom R, Fryns JP, Evers-Kiebooms G, Decruyenaere M, Demyttenaere K, Marynen P, et al. Legius E, et al. Eur J Hum Genet. 1994;2(1):44-50. doi: 10.1159/000472340. Eur J Hum Genet. 1994. PMID: 8044653

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