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Results: 1 to 20 of 223

1.

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 Jan 14. doi: 10.1038/ejhg.2014.282. [Epub ahead of print]

PMID:
25585704
[PubMed - as supplied by publisher]
2.

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. 2014 Dec 5. [Epub ahead of print]

PMID:
25475362
[PubMed - as supplied by publisher]
3.

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.

PMID:
25393061
[PubMed - in process]
4.

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
[PubMed - in process]
5.

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
[PubMed - in process]
6.

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
[PubMed - indexed for MEDLINE]
7.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80. doi: 10.1186/gb-2014-15-6-r80.

PMID:
24958239
[PubMed - in process]
Free PMC Article
8.

Characterizing the microstructural basis of "unidentified bright objects" in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis.

Billiet T, Mädler B, D'Arco F, Peeters R, Deprez S, Plasschaert E, Leemans A, Zhang H, den Bergh BV, Vandenbulcke M, Legius E, Sunaert S, Emsell L.

Neuroimage Clin. 2014 Apr 13;4:649-58. doi: 10.1016/j.nicl.2014.04.005. eCollection 2014.

PMID:
24936416
[PubMed - in process]
Free PMC Article
9.

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.

Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D.

Clin Genet. 2014 Apr 2. doi: 10.1111/cge.12388. [Epub ahead of print]

PMID:
24697860
[PubMed - as supplied by publisher]
10.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H.

Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.

PMID:
24443315
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

What the neurosurgeon should know about hemangioblastoma, both sporadic and in Von Hippel-Lindau disease: A literature review.

Bamps S, Calenbergh FV, Vleeschouwer SD, Loon JV, Sciot R, Legius E, Goffin J.

Surg Neurol Int. 2013 Nov 8;4:145. doi: 10.4103/2152-7806.121110. Review.

PMID:
24340227
[PubMed]
Free PMC Article
12.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. Review.

PMID:
24334617
[PubMed - indexed for MEDLINE]
Free Article
13.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.

Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14.

PMID:
24232412
[PubMed - in process]
14.

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial.

van der Vaart T, Plasschaert E, Rietman AB, Renard M, Oostenbrink R, Vogels A, de Wit MC, Descheemaeker MJ, Vergouwe Y, Catsman-Berrevoets CE, Legius E, Elgersma Y, Moll HA.

Lancet Neurol. 2013 Nov;12(11):1076-83. doi: 10.1016/S1474-4422(13)70227-8. Epub 2013 Oct 1.

PMID:
24090588
[PubMed - indexed for MEDLINE]
15.

Comparative oncogenomic analysis of copy number alterations in human and zebrafish tumors enables cancer driver discovery.

Zhang G, Hoersch S, Amsterdam A, Whittaker CA, Beert E, Catchen JM, Farrington S, Postlethwait JH, Legius E, Hopkins N, Lees JA.

PLoS Genet. 2013 Aug;9(8):e1003734. doi: 10.1371/journal.pgen.1003734. Epub 2013 Aug 29.

PMID:
24009526
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Role of visual evoked potentials in the assessment and management of optic pathway gliomas in children.

Van Mierlo C, Spileers W, Legius E, Casteels I, Cassiman C.

Doc Ophthalmol. 2013 Dec;127(3):177-90. doi: 10.1007/s10633-013-9399-5. Epub 2013 Jul 25. Review.

PMID:
23884797
[PubMed - indexed for MEDLINE]
17.

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Hopman SM, Merks JH, de Borgie CA, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam RC.

Eur J Cancer. 2013 Oct;49(15):3247-54. doi: 10.1016/j.ejca.2013.06.015. Epub 2013 Jul 12.

PMID:
23855994
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.

Spaepen M, Neven E, Sagaert X, De Hertogh G, Beert E, Wimmer K, Matthijs G, Legius E, Brems H.

Genes Chromosomes Cancer. 2013 Sep;52(9):845-54. doi: 10.1002/gcc.22080. Epub 2013 Jun 26.

PMID:
23801599
[PubMed - indexed for MEDLINE]
19.

Ophthalmological assessment of children with neurofibromatosis type 1.

Cassiman C, Legius E, Spileers W, Casteels I.

Eur J Pediatr. 2013 Oct;172(10):1327-33. doi: 10.1007/s00431-013-2035-2. Epub 2013 May 25. Review.

PMID:
23708214
[PubMed - indexed for MEDLINE]
20.

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Chmara M, Wernstedt A, Wasag B, Peeters H, Renard M, Beert E, Brems H, Giner T, Bieber I, Hamm H, Sciot R, Wimmer K, Legius E.

Genes Chromosomes Cancer. 2013 Jul;52(7):656-64. doi: 10.1002/gcc.22061. Epub 2013 Apr 30.

PMID:
23629955
[PubMed - indexed for MEDLINE]
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