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Items: 1 to 50 of 61

1.

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Pemov A, Hansen NF, Sindiri S, Patidar R, Higham CS, Dombi E, Miettinen MM, Fetsch P, Brems H, Chandrasekharappa S, Jones K, Zhu B, Wei JS; NISC Comparative Sequencing Program; NCI DCEG Cancer Genomics Research Laboratory, Mullikin JC, Wallace MR, Khan J, Legius E, Widemann BC, Stewart DR.

Neuro Oncol. 2019 Feb 5. doi: 10.1093/neuonc/noz028. [Epub ahead of print]

PMID:
30722027
2.

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

Steklov M, Pandolfi S, Baietti MF, Batiuk A, Carai P, Najm P, Zhang M, Jang H, Renzi F, Cai Y, Abbasi Asbagh L, Pastor T, De Troyer M, Simicek M, Radaelli E, Brems H, Legius E, Tavernier J, Gevaert K, Impens F, Messiaen L, Nussinov R, Heymans S, Eyckerman S, Sablina AA.

Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.

PMID:
30442762
3.

Nevus anemicus and RASopathies.

Bulteel C, Morren MA, De Haes P, Denayer E, Legius E, Brems H.

JAAD Case Rep. 2018 Apr 6;4(4):390-391. doi: 10.1016/j.jdcr.2017.09.037. eCollection 2018 May. No abstract available.

4.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.

Pediatr Dermatol. 2018 May;35(3):e186-e188. doi: 10.1111/pde.13441. Epub 2018 Mar 1.

PMID:
29493003
5.

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Higham CS, Dombi E, Rogiers A, Bhaumik S, Pans S, Connor SEJ, Miettinen M, Sciot R, Tirabosco R, Brems H, Baldwin A, Legius E, Widemann BC, Ferner RE.

Neuro Oncol. 2018 May 18;20(6):818-825. doi: 10.1093/neuonc/noy013.

PMID:
29409029
6.

Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.

Borrie SC, Brems H, Legius E, Bagni C.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:115-142. doi: 10.1146/annurev-genom-091416-035332. Review.

PMID:
28859574
7.

Erratum: 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 JMA, Nica I, Legius E, Geris L.

Sci Rep. 2017 Jun 30;7:46384. doi: 10.1038/srep46384.

8.

Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Van Royen K, Brems H, Legius E, Lammens J, Laumen A.

Eur J Pediatr. 2017 Jul;176(7):993. doi: 10.1007/s00431-017-2921-0. No abstract available.

PMID:
28478524
9.

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Cassiman C, Casteels I, Jacob J, Plasschaert E, Brems H, Dubron K, Keer KV, Legius E.

Clin Genet. 2017 Apr;91(4):529-535. doi: 10.1111/cge.12873. Epub 2016 Nov 24.

PMID:
27716896
10.

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Van Royen K, Brems H, Legius E, Lammens J, Laumen A.

Eur J Pediatr. 2016 Sep;175(9):1193-1198. doi: 10.1007/s00431-016-2757-z. Epub 2016 Aug 12. Review. Erratum in: Eur J Pediatr. 2017 Jul;176(7):993.

PMID:
27519821
11.

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

Friedrich RE, Grob TJ, Hollants S, Zustin J, Spaepen M, Mautner VF, Luebke AM, Hagel C, Legius E, Brems H.

J Craniomaxillofac Surg. 2016 Aug;44(8):1054-60. doi: 10.1016/j.jcms.2016.05.010. Epub 2016 May 15.

PMID:
27316856
12.

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. Erratum in: Sci Rep. 2017 Jun 30;7:46384.

13.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, 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. 2016 Feb 12;291(7):3124-34. doi: 10.1074/jbc.M115.703710. Epub 2015 Dec 3.

14.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.

Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.

PMID:
26116798
15.

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.

16.

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
17.

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.

18.

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.

19.

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.

Vandewalle J, Langen M, Zschätzsch M, Nijhof B, Kramer JM, Brems H, Bauters M, Lauwers E, Srahna M, Marynen P, Verstreken P, Schenck A, Hassan BA, Froyen G.

PLoS One. 2013 Nov 26;8(11):e81791. doi: 10.1371/journal.pone.0081791. eCollection 2013. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/5a4ac42e-a148-4a89-b148-e47de0d72d16. Zschaetzsch, Marlen [corrected to Zschätzsch, Marlen].

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
21.

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
22.

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
23.

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L.

Hum Mutat. 2012 Nov;33(11):1538-46. doi: 10.1002/humu.22152. Epub 2012 Aug 1. Review.

PMID:
22753041
24.

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.

Beert E, Brems H, Renard M, Ferreiro JF, Melotte C, Thoelen R, De Wever I, Sciot R, Legius E, Debiec-Rychter M.

Genes Chromosomes Cancer. 2012 Sep;51(9):852-7. doi: 10.1002/gcc.21969. Epub 2012 May 14.

PMID:
22585738
25.

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.

Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18.

26.

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Stewart DR, Pemov A, Van Loo P, Beert E, Brems H, Sciot R, Claes K, Pak E, Dutra A, Lee CC, Legius E.

Genes Chromosomes Cancer. 2012 May;51(5):429-37. doi: 10.1002/gcc.21928. Epub 2012 Jan 17.

27.

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.

Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23.

28.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.

Beert E, Brems H, Daniëls B, De Wever I, Van Calenbergh F, Schoenaers J, Debiec-Rychter M, Gevaert O, De Raedt T, Van Den Bruel A, de Ravel T, Cichowski K, Kluwe L, Mautner V, Sciot R, Legius E.

Genes Chromosomes Cancer. 2011 Dec;50(12):1021-32. doi: 10.1002/gcc.20921. Epub 2011 Aug 24.

PMID:
21987445
29.

Legius syndrome in fourteen families.

Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E.

Hum Mutat. 2011 Jan;32(1):E1985-98. doi: 10.1002/humu.21404.

30.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
31.

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E.

BMC Med Genet. 2009 Sep 22;10:97. doi: 10.1186/1471-2350-10-97.

32.

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, Claes K, Beert E, Peeters K, Mautner V, Sloan JL, Yao L, Lee CC, Sciot R, De Smet L, Legius E, Stewart DR.

Cancer Res. 2009 Sep 15;69(18):7393-401. doi: 10.1158/0008-5472.CAN-09-1752. Epub 2009 Sep 8. Erratum in: Cancer Res. 2009 Oct 15;69(20):8216. Messia, Ludwine [corrected to Messiaen, Ludwine].

33.

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

Brems H, Beert E, de Ravel T, Legius E.

Lancet Oncol. 2009 May;10(5):508-15. doi: 10.1016/S1470-2045(09)70033-6. Review.

PMID:
19410195
34.

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.

Vanneste E, Melotte C, Debrock S, D'Hooghe T, Brems H, Fryns JP, Legius E, Vermeesch JR.

Hum Reprod. 2009 Jun;24(6):1522-8. doi: 10.1093/humrep/dep034. Epub 2009 Mar 10.

PMID:
19278970
35.

Spred1 is required for synaptic plasticity and hippocampus-dependent learning.

Denayer E, Ahmed T, Brems H, Van Woerden G, Borgesius NZ, Callaerts-Vegh Z, Yoshimura A, Hartmann D, Elgersma Y, D'Hooge R, Legius E, Balschun D.

J Neurosci. 2008 Dec 31;28(53):14443-9. doi: 10.1523/JNEUROSCI.4698-08.2008.

36.

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.

Eur J Hum Genet. 2008 May;16(5):572-80. doi: 10.1038/sj.ejhg.5202002. Epub 2008 Jan 23.

37.

The cardiofaciocutaneous syndrome: prenatal findings in two patients.

Witters I, Denayer E, Brems H, Fryns JP, Legius E.

Prenat Diagn. 2008 Jan;28(1):53-5. No abstract available.

PMID:
18022830
38.

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.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PMID:
17704776
39.

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.

Am J Hum Genet. 2007 Aug;81(2):243-51. Epub 2007 Jun 20.

40.

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.

Nat Genet. 2006 Dec;38(12):1419-23. Epub 2006 Nov 19.

PMID:
17115058
41.

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

de Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, de Wever I, Schöffski P, Marynen P, Legius E.

Gastroenterology. 2006 Dec;131(6):1907-12.

PMID:
17087943
42.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L.

Hum Mutat. 2006 Oct;27(10):1030-40.

PMID:
16941471
43.

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E.

Genes Chromosomes Cancer. 2006 Oct;45(10):893-904.

PMID:
16830335
44.

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Johannessen CM, Reczek EE, James MF, Brems H, Legius E, Cichowski K.

Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8573-8. Epub 2005 Jun 3. Erratum in: Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):16119.

45.

Intelligence in individuals with a neurofibromatosis type 1 microdeletion.

Descheemaeker MJ, Roelandts K, De Raedt T, Brems H, Fryns JP, Legius E.

Am J Med Genet A. 2004 Dec 15;131(3):325-6. No abstract available.

PMID:
15472997
46.

Genomic organization and evolution of the NF1 microdeletion region.

De Raedt T, Brems H, Lopez-Correa C, Vermeesch JR, Marynen P, Legius E.

Genomics. 2004 Aug;84(2):346-60.

PMID:
15233998
47.

Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients.

Frahm S, Mautner VF, Brems H, Legius E, Debiec-Rychter M, Friedrich RE, Knöfel WT, Peiper M, Kluwe L.

Neurobiol Dis. 2004 Jun;16(1):85-91.

PMID:
15207265
48.

Second polar body inclusion results in diploid/triploid mixoploidy.

Brems H, Vogels A, Ribai P, De Raedt T, Fryns JP, Legius E.

Genet Couns. 2003;14(4):425-9.

PMID:
14738117
49.

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.

Am J Hum Genet. 2003 May;72(5):1288-92. Epub 2003 Mar 26.

50.

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.

Clin Dysmorphol. 2001 Oct;10(4):263-7.

PMID:
11666000

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