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Items: 1 to 20 of 237

1.

Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

Carlier A, Brems H, Ashbourn JM, Nica I, Legius E, Geris L.

Sci Rep. 2016 Jan 29;7:20010. doi: 10.1038/srep20010.

2.

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning.

Plasschaert E, Van Eylen L, Descheemaeker MJ, Noens I, Legius E, Steyaert J.

Am J Med Genet B Neuropsychiatr Genet. 2016 Jan 15. doi: 10.1002/ajmg.b.32414. [Epub ahead of print]

PMID:
26773288
3.

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study.

Vandenberghe P, Wlodarska I, Tousseyn T, Dehaspe L, Dierickx D, Verheecke M, Uyttebroeck A, Bechter O, Delforge M, Vandecaveye V, Brison N, Verhoef GE, Legius E, Amant F, Vermeesch JR.

Lancet Haematol. 2015 Feb;2(2):e55-65. doi: 10.1016/S2352-3026(14)00039-8. Epub 2015 Jan 20.

PMID:
26687610
4.

Interaction between a domain of a negative regulator of the RAS-ERK pathway, SPRED1, and the GTPase-Activating Protein-Related Domain of neurofibromin is implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.

J Biol Chem. 2015 Dec 3. pii: jbc.M115.703710. [Epub ahead of print]

5.

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1.

van der Vaart T, Rietman AB, Plasschaert E, Legius E, Elgersma Y, Moll HA; NF1-SIMCODA Study Group.

Neurology. 2016 Jan 12;86(2):154-60. doi: 10.1212/WNL.0000000000002118. Epub 2015 Oct 30.

PMID:
26519538
6.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

7.

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.

Amant F, Verheecke M, Wlodarska I, Dehaspe L, Brady P, Brison N, Van Den Bogaert K, Dierickx D, Vandecaveye V, Tousseyn T, Moerman P, Vanderstichele A, Vergote I, Neven P, Berteloot P, Putseys K, Danneels L, Vandenberghe P, Legius E, Vermeesch JR.

JAMA Oncol. 2015 Sep;1(6):814-9. doi: 10.1001/jamaoncol.2015.1883.

PMID:
26355862
8.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

PMID:
26178382
9.

Concurrent whole-genome haplotyping and copy-number profiling of single cells.

Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E, Moreau Y, Debrock S, D'Hooghe T, Verdyck P, De Rycke M, Sermon K, Vermeesch JR, Voet T.

Am J Hum Genet. 2015 Jun 4;96(6):894-912. doi: 10.1016/j.ajhg.2015.04.011. Epub 2015 May 14.

10.

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

Breckpot J, Anderlid BM, Alanay Y, Blyth M, Brahimi A, Duban-Bedu B, Gozé O, Firth H, Yakicier MC, Hens G, Rayyan M, Legius E, Vermeesch JR, Devriendt K.

Eur J Hum Genet. 2016 Jan;24(1):51-8. doi: 10.1038/ejhg.2015.65. Epub 2015 May 6.

PMID:
25944382
11.

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Farschtschi S, Mautner VF, Hollants S, Hagel C, Spaepen M, Schulte C, Legius E, Brems H.

BMC Med Genet. 2015 Feb 10;16:6. doi: 10.1186/s12881-015-0146-5.

12.

Clinical implementation of NIPT - technical and biological challenges.

Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR.

Clin Genet. 2015 Apr 13. doi: 10.1111/cge.12598. [Epub ahead of print]

PMID:
25867715
13.

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Garavelli L, Cordeddu V, Errico S, Bertolini P, Street ME, Rosato S, Pollazzon M, Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, Dominici C, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M.

Am J Med Genet A. 2015 Aug;167A(8):1902-7. doi: 10.1002/ajmg.a.37082. Epub 2015 Apr 5.

PMID:
25846317
14.

Comparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm.

Caen S, Cassiman C, Legius E, Casteels I.

Eur J Paediatr Neurol. 2015 Jul;19(4):415-22. doi: 10.1016/j.ejpn.2015.03.002. Epub 2015 Mar 10.

PMID:
25797697
15.

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.

Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14.

PMID:
25585704
16.

Autism spectrum disorder profile in neurofibromatosis type I.

Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghgraef M, Vogels A, Evans DG, Legius E, Green J.

J Autism Dev Disord. 2015 Jun;45(6):1649-57. doi: 10.1007/s10803-014-2321-5.

PMID:
25475362
17.

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12.

18.

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1.

Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):72-80. doi: 10.1002/ajmg.b.32280. Epub 2014 Nov 12.

PMID:
25388972
19.

Deficient motor timing in children with neurofibromatosis type 1.

Debrabant J, Plasschaert E, Caeyenberghs K, Vingerhoets G, Legius E, Janssens S, Van Waelvelde H.

Res Dev Disabil. 2014 Nov;35(11):3131-8. doi: 10.1016/j.ridd.2014.07.059. Epub 2014 Aug 20.

PMID:
25145806
20.

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

De Raedt T, Beert E, Pasmant E, Luscan A, Brems H, Ortonne N, Helin K, Hornick JL, Mautner V, Kehrer-Sawatzki H, Clapp W, Bradner J, Vidaud M, Upadhyaya M, Legius E, Cichowski K.

Nature. 2014 Oct 9;514(7521):247-51. doi: 10.1038/nature13561. Epub 2014 Aug 13.

PMID:
25119042
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