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Items: 20

1.

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
2.

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
3.

Common somatic alterations identified in maffucci syndrome by molecular karyotyping.

Amyere M, Dompmartin A, Wouters V, Enjolras O, Kaitila I, Docquier PL, Godfraind C, Mulliken JB, Boon LM, Vikkula M.

Mol Syndromol. 2014 Dec;5(6):259-67. doi: 10.1159/000365898. Epub 2014 Aug 26.

4.

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.

Amyere M, Aerts V, Brouillard P, McIntyre BA, Duhoux FP, Wassef M, Enjolras O, Mulliken JB, Devuyst O, Antoine-Poirel H, Boon LM, Vikkula M.

Am J Hum Genet. 2013 Feb 7;92(2):188-96. doi: 10.1016/j.ajhg.2012.12.017. Epub 2013 Jan 31.

5.

Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.

Gianfrancesco F, Rendina D, Merlotti D, Esposito T, Amyere M, Formicola D, Muscariello R, De Filippo G, Strazzullo P, Nuti R, Vikkula M, Gennari L.

J Bone Miner Res. 2013 Feb;28(2):341-50. doi: 10.1002/jbmr.1750.

6.

TMEM165 deficiency causes a congenital disorder of glycosylation.

Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G.

Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7.

7.

KITLG mutations cause familial progressive hyper- and hypopigmentation.

Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M.

J Invest Dermatol. 2011 Jun;131(6):1234-9. doi: 10.1038/jid.2011.29. Epub 2011 Mar 3.

8.

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.

Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noel G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, van Schaftingen E.

Biochem J. 2009 Dec 14;425(1):127-36. doi: 10.1042/BJ20091024.

9.

Analysis of the progression of JAK2 V617F positive myeloproliferative neoplasms by single-nucleotide polymorphism array does not reveal a strong chromosomal instability.

Knoops L, Amyere M, Selleslag D, van Hees J, Girardot M, Michaux L.

Cancer Genet Cytogenet. 2009 Jul 15;192(2):102-4. doi: 10.1016/j.cancergencyto.2009.04.016. No abstract available.

PMID:
19596266
10.

Chromosome instability is common in human cleavage-stage embryos.

Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, Fryns JP, Verbeke G, D'Hooghe T, Moreau Y, Vermeesch JR.

Nat Med. 2009 May;15(5):577-83. doi: 10.1038/nm.1924. Epub 2009 Apr 26.

PMID:
19396175
11.

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.

Persu A, Amyere M, Gutierrez-Roelens I, Rustin P, Sempoux C, Lecouvet FE, Van Beers BE, Horsmans Y, De Plaen JF, MarcHamoir, Vikkula M.

J Hypertens. 2009 Jan;27(1):76-82.

PMID:
19145771
12.

Identification of candidate regions for a novel Usher syndrome type II locus.

Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S.

Mol Vis. 2008 Sep 19;14:1719-26.

13.

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR.

Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001.

14.

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM.

Nat Genet. 2006 Nov;38(11):1248-50. Epub 2006 Oct 8.

15.

Src triggers circular ruffling and macropinocytosis at the apical surface of polarized MDCK cells.

Mettlen M, Platek A, Van Der Smissen P, Carpentier S, Amyere M, Lanzetti L, de Diesbach P, Tyteca D, Courtoy PJ.

Traffic. 2006 May;7(5):589-603.

16.

Localization of candidate regions for a novel gene for Kartagener syndrome.

Gutierrez-Roelens I, Sluysmans T, Jorissen M, Amyere M, Vikkula M.

Eur J Hum Genet. 2006 Jul;14(7):809-15. Epub 2006 Apr 26.

17.

v-Src accelerates spontaneous motility via phosphoinositide 3-kinase, phospholipase C and phospholipase D, but abrogates chemotaxis in Rat-1 and MDCK cells.

Platek A, Mettlen M, Camby I, Kiss R, Amyere M, Courtoy PJ.

J Cell Sci. 2004 Sep 15;117(Pt 20):4849-61. Epub 2004 Aug 31.

18.

Origin, originality, functions, subversions and molecular signalling of macropinocytosis.

Amyere M, Mettlen M, Van Der Smissen P, Platek A, Payrastre B, Veithen A, Courtoy PJ.

Int J Med Microbiol. 2002 Feb;291(6-7):487-94. Review.

PMID:
11890548
19.

Constitutive macropinocytosis in oncogene-transformed fibroblasts depends on sequential permanent activation of phosphoinositide 3-kinase and phospholipase C.

Amyere M, Payrastre B, Krause U, Van Der Smissen P, Veithen A, Courtoy PJ.

Mol Biol Cell. 2000 Oct;11(10):3453-67.

20.

Regulation of macropinocytosis in v-Src-transformed fibroblasts: cyclic AMP selectively promotes regurgitation of macropinosomes.

Veithen A, Amyere M, Van Der Smissen P, Cupers P, Courtoy PJ.

J Cell Sci. 1998 Aug;111 ( Pt 16):2329-35.

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