Legius E - Search Results

1

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. Kohl S, et al. Among authors: legius e. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609

2

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: legius e. Eur J Hum Genet. 2008 May;16(5):572-80. doi: 10.1038/sj.ejhg.5202002. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212816

3

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

Michils G, Tejpar S, Fryns JP, Legius E, Van Cutsem E, Cassiman JJ, Matthijs G. Michils G, et al. Among authors: legius e. Eur J Hum Genet. 2002 Sep;10(9):505-10. doi: 10.1038/sj.ejhg.5200825. Eur J Hum Genet. 2002. PMID: 12173026

4

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk MY, Cassiman JJ. Matthijs G, et al. Among authors: legius e. J Med Genet. 1996 Jun;33(6):469-74. doi: 10.1136/jmg.33.6.469. J Med Genet. 1996. PMID: 8782046 Free PMC article.

5

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L, Spurlock G, Eudall C, Thomas NS, Mort M, Hamby SE, Chuzhanova N, Brems H, Legius E, Cooper DN, Upadhyaya M. Thomas L, et al. Among authors: legius e. Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23. Eur J Hum Genet. 2012. PMID: 22108604 Free PMC article.

6

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G. Schollen E, et al. Among authors: legius e. Eur J Hum Genet. 2000 May;8(5):367-71. doi: 10.1038/sj.ejhg.5200470. Eur J Hum Genet. 2000. PMID: 10854097

7

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E. Schollen E, et al. Among authors: legius e. Eur J Hum Genet. 2003 Jan;11(1):85-8. doi: 10.1038/sj.ejhg.5200915. Eur J Hum Genet. 2003. PMID: 12529711

8

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.

Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Bayindir B, et al. Among authors: legius e. Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585704 Free PMC article.

9

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E. Babovic-Vuksanovic D, et al. Among authors: legius e. Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258529 Free PMC article.

10

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H. Zickler AM, et al. Among authors: legius e. Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22045503

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