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Results: 1 to 20 of 230

1.

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 Jul 14. doi: 10.1002/humu.22832. [Epub ahead of print]

PMID:
26178382
2.

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.

PMID:
25983246
3.

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. 2015 May 6. doi: 10.1038/ejhg.2015.65. [Epub ahead of print]

PMID:
25944382
4.

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.

5.

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
6.

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;167(8):1902-7. doi: 10.1002/ajmg.a.37082. Epub 2015 Apr 5.

PMID:
25846317
7.

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
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.

Eur J Hum Genet. 2015 Jan 14. doi: 10.1038/ejhg.2014.282. [Epub ahead of print]

PMID:
25585704
9.

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
10.

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
11.

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
12.

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
13.

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
14.

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.

15.

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.

16.

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. 2015 Apr;87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16.

PMID:
24697860
17.

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.

18.

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.

19.

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.

20.

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
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