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Items: 1 to 50 of 195

1.

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M.

J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106024. doi: 10.1136/jmedgenet-2019-106024. [Epub ahead of print]

PMID:
31300548
2.

DNA alteration-based classification of uveal melanoma gives better prognostic stratification than immune infiltration, which has a neutral effect in high-risk group.

Narasimhaiah D, Legrand C, Damotte D, Remark R, Munda M, De Potter P, Coulie PG, Vikkula M, Godfraind C.

Cancer Med. 2019 Jun;8(6):3036-3046. doi: 10.1002/cam4.2122. Epub 2019 Apr 25.

3.

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

Dachy G, de Krijger RR, Fraitag S, Théate I, Brichard B, Hoffman SB, Libbrecht L, Arts FA, Brouillard P, Vikkula M, Limaye N, Demoulin JB.

JAMA Dermatol. 2019 Apr 24. doi: 10.1001/jamadermatol.2019.0114. [Epub ahead of print]

PMID:
31017643
4.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M.

Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25.

PMID:
30908877
5.

Rapamycin and treatment of venous malformations.

Seront E, Van Damme A, Boon LM, Vikkula M.

Curr Opin Hematol. 2019 May;26(3):185-192. doi: 10.1097/MOH.0000000000000498.

PMID:
30855337
6.

Arterial Tortuosity.

Ciurică S, Lopez-Sublet M, Loeys BL, Radhouani I, Natarajan N, Vikkula M, Maas AHEM, Adlam D, Persu A.

Hypertension. 2019 May;73(5):951-960. doi: 10.1161/HYPERTENSIONAHA.118.11647. No abstract available.

PMID:
30852920
7.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT.

Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18.

PMID:
30578106
8.

Unmasking familial CPX by WES and identification of novel clinical signs.

Demeer B, Revencu N, Helaers R, Devauchelle B, François G, Bayet B, Vikkula M.

Am J Med Genet A. 2018 Dec;176(12):2661-2667. doi: 10.1002/ajmg.a.40630. Epub 2018 Nov 21.

PMID:
30462376
9.

Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.

van Marcke C, Collard A, Vikkula M, Duhoux FP.

Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.

PMID:
30447919
10.

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study.

Hammer J, Seront E, Duez S, Dupont S, Van Damme A, Schmitz S, Hoyoux C, Chopinet C, Clapuyt P, Hammer F, Vikkula M, Boon LM.

Orphanet J Rare Dis. 2018 Oct 29;13(1):191. doi: 10.1186/s13023-018-0934-z.

11.

Angiosarcoma arising from congenital primary lymphedema.

Janssens P, Dekeuleneer V, Van Damme A, Brouillard P, Revencu N, Clapuyt P, Ferreira I, Ballieux F, Vikkula M, Marot L, Baeck M, Boon LM.

Pediatr Dermatol. 2018 Nov;35(6):e382-e388. doi: 10.1111/pde.13664. Epub 2018 Sep 14.

PMID:
30216524
12.

Genomics of Fibromuscular Dysplasia.

Di Monaco S, Georges A, Lengelé JP, Vikkula M, Persu A.

Int J Mol Sci. 2018 May 21;19(5). pii: E1526. doi: 10.3390/ijms19051526. Review.

13.

Incidence of Cellulitis among Children with Primary Lymphedema.

Quéré I, Nagot N, Vikkula M.

N Engl J Med. 2018 May 24;378(21):2047-2048. doi: 10.1056/NEJMc1802399. No abstract available.

PMID:
29791815
14.

Multiple Cutaneous and Mucosal Venous Malformations.

Boon LM, Vikkula M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Sep 18 [updated 2018 May 17].

15.

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Fastré E, Lanteigne LE, Helaers R, Giacalone G, Revencu N, Dionyssiou D, Demiri E, Brouillard P, Vikkula M.

Clin Genet. 2018 Jul;94(1):179-181. doi: 10.1111/cge.13204. Epub 2018 Mar 15. No abstract available.

PMID:
29542815
16.

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.

Laterre M, Bernard P, Vikkula M, Sznajer Y.

Prenat Diagn. 2018 Apr;38(5):337-343. doi: 10.1002/pd.5243. Epub 2018 Mar 23. No abstract available.

PMID:
29500832
17.

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M.

J Med Genet. 2018 Jul;55(7):449-458. doi: 10.1136/jmedgenet-2017-105110. Epub 2018 Mar 2.

PMID:
29500247
18.

Etiology and Genetics of Congenital Vascular Lesions.

Queisser A, Boon LM, Vikkula M.

Otolaryngol Clin North Am. 2018 Feb;51(1):41-53. doi: 10.1016/j.otc.2017.09.006. Review.

PMID:
29217067
19.

Venous Malformations of the Head and Neck.

Seront E, Vikkula M, Boon LM.

Otolaryngol Clin North Am. 2018 Feb;51(1):173-184. doi: 10.1016/j.otc.2017.09.003. Review.

PMID:
29217061
20.

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M.

Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297.

21.

Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies.

Nguyen HL, Boon LM, Vikkula M.

Semin Intervent Radiol. 2017 Sep;34(3):233-238. doi: 10.1055/s-0037-1604296. Epub 2017 Sep 11. Review.

22.

Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas.

Evenepoel L, van Nederveen FH, Oudijk L, Papathomas TG, Restuccia DF, Belt EJT, de Herder WW, Feelders RA, Franssen GJH, Hamoir M, Maiter D, Ghayee HK, Shay JW, Perren A, Timmers HJLM, van Eeden S, Vroonen L, Aydin S, Robledo M, Vikkula M, de Krijger RR, Dinjens WNM, Persu A, Korpershoek E.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):46-55. doi: 10.1210/jc.2017-01314.

PMID:
28938490
23.

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.

Jha SK, Rauniyar K, Karpanen T, Leppänen VM, Brouillard P, Vikkula M, Alitalo K, Jeltsch M.

Sci Rep. 2017 Jul 7;7(1):4916. doi: 10.1038/s41598-017-04982-1.

24.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.

PMID:
28687708
25.

KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors.

Evenepoel L, Helaers R, Vroonen L, Aydin S, Hamoir M, Maiter D, Vikkula M, Persu A.

Endocr Relat Cancer. 2017 Aug;24(8):L57-L61. doi: 10.1530/ERC-17-0061. Epub 2017 May 17. No abstract available.

PMID:
28515046
26.

Comment on "Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing".

van Marcke C, Vikkula M, Duhoux FP.

J Am Coll Radiol. 2017 May;14(5):582. doi: 10.1016/j.jacr.2017.01.017. No abstract available.

PMID:
28473152
27.

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G, Noël LA, Velghe AI, Galant C, Debiec-Rychter M, Van Damme A, Vikkula M, Helaers R, Limaye N, Poirel HA, Demoulin JB.

Hum Mol Genet. 2017 May 15;26(10):1801-1810. doi: 10.1093/hmg/ddx081.

PMID:
28334876
28.

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Brambila-Tapia AJL, García-Ortiz JE, Brouillard P, Nguyen HL, Vikkula M, Ríos-González BE, Sandoval-Muñiz RJ, Sandoval-Talamantes AK, Bobadilla-Morales L, Corona-Rivera JR, Arnaud-Lopez L.

Hematology. 2017 Sep;22(8):467-471. doi: 10.1080/10245332.2017.1294551. Epub 2017 Mar 8.

PMID:
28271814
29.

Inheritance Patterns of Infantile Hemangioma.

Castrén E, Salminen P, Vikkula M, Pitkäranta A, Klockars T.

Pediatrics. 2016 Nov;138(5). pii: e20161623. Epub 2016 Oct 12.

30.

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

van Marcke C, De Leener A, Berlière M, Vikkula M, Duhoux FP.

Crit Rev Oncol Hematol. 2016 Dec;108:33-39. doi: 10.1016/j.critrevonc.2016.10.008. Epub 2016 Oct 29. Review.

PMID:
27931838
31.

Age-related heterogeneity of Burkitt lymphoma: response to Mbulaiteye and Anderson.

Poirel HA, Vikkula M.

Br J Haematol. 2018 Jan;180(1):155-156. doi: 10.1111/bjh.14309. Epub 2016 Sep 9. No abstract available.

PMID:
27612331
32.

Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.

Goffinet L, Oussalah A, Guéant-Rodriguez RM, Chery C, Basha M, Avogbe PH, Josse T, Jeannesson E, Rouyer P, Flayac J, Gerard P, Le Touze A, Bonin-Goga B, Goga D, Simon E, Feillet F, Vikkula M, Guéant JL.

J Med Genet. 2016 Dec;53(12):828-834. doi: 10.1136/jmedgenet-2016-104111. Epub 2016 Aug 17.

PMID:
27535090
33.

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M.

J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9.

34.

[Rapamycin opens the era of targeted molecular therapy of venous malformations].

Seront E, Limaye N, Boon LM, Vikkula M.

Med Sci (Paris). 2016 Jun-Jul;32(6-7):574-8. doi: 10.1051/medsci/20163206016. Epub 2016 Jul 12. French. No abstract available.

35.

STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort.

Persu A, Evenepoel L, Jin Y, Mendola A, Ngueta G, Yang WY, Gruson D, Horman S, Staessen JA, Vikkula M; BELHYPGEN Consortium.

Medicine (Baltimore). 2016 Apr;95(15):e2968. doi: 10.1097/MD.0000000000002968.

36.

Genetic differences between paediatric and adult Burkitt lymphomas.

Havelange V, Pepermans X, Ameye G, Théate I, Callet-Bauchu E, Barin C, Penther D, Lippert E, Michaux L, Mugneret F, Dastugue N, Raphaël M, Vikkula M, Poirel HA.

Br J Haematol. 2016 Apr;173(1):137-44. doi: 10.1111/bjh.13925. Epub 2016 Feb 16.

PMID:
26887776
37.

The peculiar 11q-gain/loss aberration reported in a subset of MYC-negative high-grade B-cell lymphomas can also occur in a MYC-rearranged lymphoma.

Havelange V, Ameye G, Théate I, Callet-Bauchu E, Lippert E, Luquet I, Raphaël M, Vikkula M, Poirel HA.

Cancer Genet. 2016 Mar;209(3):117-8. doi: 10.1016/j.cancergen.2015.12.005. Epub 2015 Dec 15. No abstract available.

PMID:
26776268
38.

Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.

Lannoy N, Ravoet M, Grisart B, Fretigny M, Vikkula M, Hermans C.

Thromb Res. 2016 Jan;137:224-227. doi: 10.1016/j.thromres.2015.11.015. Epub 2015 Dec 1. No abstract available.

PMID:
26653368
39.

Somatic Activating PIK3CA Mutations Cause Venous Malformation.

Limaye N, Kangas J, Mendola A, Godfraind C, Schlögel MJ, Helaers R, Eklund L, Boon LM, Vikkula M.

Am J Hum Genet. 2015 Dec 3;97(6):914-21. doi: 10.1016/j.ajhg.2015.11.011.

40.

Blue bleb rubber nevus syndrome.

Ballieux F, Boon LM, Vikkula M.

Handb Clin Neurol. 2015;132:223-30. doi: 10.1016/B978-0-444-62702-5.00016-0. Review.

PMID:
26564083
41.

Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.

Christiaens AB, Deprez PML, Amyere M, Mendola A, Bernard P, Gillerot Y, Clapuyt P, Godfraind C, Lengelé BG, Vikkula M, Nyssen-Behets C.

Am J Med Genet A. 2016 Feb;170A(2):523-530. doi: 10.1002/ajmg.a.37462. Epub 2015 Nov 6.

PMID:
26544544
42.

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M, Kangas J, Miinalainen I, Sormunen R, Pietilä R, Soblet J, Boon LM, Vikkula M, Limaye N, Eklund L.

Hum Mol Genet. 2015 Nov 15;24(22):6374-89. doi: 10.1093/hmg/ddv349. Epub 2015 Aug 28.

43.

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.

Boscolo E, Limaye N, Huang L, Kang KT, Soblet J, Uebelhoer M, Mendola A, Natynki M, Seront E, Dupont S, Hammer J, Legrand C, Brugnara C, Eklund L, Vikkula M, Bischoff J, Boon LM.

J Clin Invest. 2015 Sep;125(9):3491-504. doi: 10.1172/JCI76004. Epub 2015 Aug 10.

44.

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.

Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee.

Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.

45.

Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.

Lannoy N, Bandelier C, Grisart B, Reginster M, Ronge-Collard E, Vikkula M, Hermans C.

Haemophilia. 2015 Jul;21(4):516-22. doi: 10.1111/hae.12675. Epub 2015 May 11.

PMID:
25962585
46.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M.

Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4.

47.

Antenatal presentation of hereditary lymphedema type I.

Boudon E, Levy Y, Abossolo T, Cartault F, Brouillard P, Vikkula M, Kieffer-Traversier M, Ramful D, Alessandri JL.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):329-31. doi: 10.1016/j.ejmg.2015.03.006. Epub 2015 Apr 18.

PMID:
25896638
48.

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

Lannoy N, Lambert C, Vikkula M, Hermans C.

Thromb Res. 2015 Jun;135(6):1057-63. doi: 10.1016/j.thromres.2015.03.017. Epub 2015 Mar 17.

PMID:
25824987
49.

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

Papathomas TG, Oudijk L, Persu A, Gill AJ, van Nederveen F, Tischler AS, Tissier F, Volante M, Matias-Guiu X, Smid M, Favier J, Rapizzi E, Libe R, Currás-Freixes M, Aydin S, Huynh T, Lichtenauer U, van Berkel A, Canu L, Domingues R, Clifton-Bligh RJ, Bialas M, Vikkula M, Baretton G, Papotti M, Nesi G, Badoual C, Pacak K, Eisenhofer G, Timmers HJ, Beuschlein F, Bertherat J, Mannelli M, Robledo M, Gimenez-Roqueplo AP, Dinjens WN, Korpershoek E, de Krijger RR.

Mod Pathol. 2015 Jun;28(6):807-21. doi: 10.1038/modpathol.2015.41. Epub 2015 Feb 27.

50.

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

Troilius Rubin A, Lauritzen E, Ljunggren B, Revencu N, Vikkula M, Svensson Å.

J Cosmet Laser Ther. 2015;17(4):204-8. doi: 10.3109/14764172.2015.1007060. Epub 2015 Mar 12.

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