Legius E - Search Results

1

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: legius e. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.

2

NF2 gene deletion in a family with a mild phenotype.

López-Correa C, Zucman-Rossi J, Brems H, Thomas G, Legius E. López-Correa C, et al. Among authors: legius e. J Med Genet. 2000 Jan;37(1):75-7. doi: 10.1136/jmg.37.1.75. J Med Genet. 2000. PMID: 10691417 Free PMC article. No abstract available.

3

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

López Correa C, Brems H, Lázaro C, Marynen P, Legius E. López Correa C, et al. Among authors: legius e. Am J Hum Genet. 2000 Jun;66(6):1969-74. doi: 10.1086/302920. Epub 2000 Apr 20. Am J Hum Genet. 2000. PMID: 10775528 Free PMC article.

4

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.

de Ravel TJ, Legius E, Brems H, Van Hoestenberghe R, Gillis PH, Fryns JP. de Ravel TJ, et al. Among authors: legius e. Clin Dysmorphol. 2001 Oct;10(4):263-7. doi: 10.1097/00019605-200110000-00005. Clin Dysmorphol. 2001. PMID: 11666000

5

Elevated risk for MPNST in NF1 microdeletion patients.

De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. De Raedt T, et al. Among authors: legius e. Am J Hum Genet. 2003 May;72(5):1288-92. doi: 10.1086/374821. Epub 2003 Mar 26. Am J Hum Genet. 2003. PMID: 12660952 Free PMC article.

6

Second polar body inclusion results in diploid/triploid mixoploidy.

Brems H, Vogels A, Ribai P, De Raedt T, Fryns JP, Legius E. Brems H, et al. Among authors: legius e. Genet Couns. 2003;14(4):425-9. Genet Couns. 2003. PMID: 14738117

7

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E. Raedt TD, et al. Among authors: legius e. Nat Genet. 2006 Dec;38(12):1419-23. doi: 10.1038/ng1920. Epub 2006 Nov 19. Nat Genet. 2006. PMID: 17115058

8

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L. Maertens O, et al. Among authors: legius e. Am J Hum Genet. 2007 Aug;81(2):243-51. doi: 10.1086/519562. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668375 Free PMC article.

9

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. Brems H, et al. Among authors: legius e. Nat Genet. 2007 Sep;39(9):1120-6. doi: 10.1038/ng2113. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704776

10

The cardiofaciocutaneous syndrome: prenatal findings in two patients.

Witters I, Denayer E, Brems H, Fryns JP, Legius E. Witters I, et al. Among authors: legius e. Prenat Diagn. 2008 Jan;28(1):53-5. doi: 10.1002/pd.1891. Prenat Diagn. 2008. PMID: 18022830 No abstract available.

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