All Publications

Pages

1. • Speech

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   Somatic second-hits explain clinical variability in GVM

   Amyere, Mustapha[UCL] (2010) 18th International Society for the Study of Vascular Anomalies (ISSVA) Congress — Brussels, Belgium
2. • Speech

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   A new gene potentally involved in a CDG-IIx patient

   Amyere, Mustapha[UCL] (2006) Séminaire — Institut de Duve, Bruxelles, Belgique
3. • Journal article

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

   Lorenz-Depiereux, Bettina Bastepe, Murat Benet-Pagès, Anna Amyere, Mustapha[UCL] Wagenstaller, Janine Müller-Barth, Ursula Badenhoop, Klaus Kaiser, Stephanie M. Rittmaster, Roger S. Shlossberg, Alan H. Olivares, José L. Loris, César Ramos, Feliciano J. Glorieux, Francis Vikkula, Miikka[UCL] Jüppner, Harald Strom, Tim M. (2006) Nature Genetics — Vol. 38, no. 11, p. 1248-1250 (2006)
4. • Journal article

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   TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation.

   Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre[UCL] Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert (2012) American Journal of Human Genetics — Vol. 91, no. 1, p. 15-26 (2012)
5. • Journal article

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   Common somatic alterations identified in Maffucci syndrome by molecular karyotyping

   Amyere, Mustapha[UCL] Dompmartin, Anne Wouters, Vinciane[UCL] Enjolras, Odile Kaitila, I Docquier, Pierre-Louis[UCL] Godfraind, Catherine[UCL] Mulliken, John B. Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2014) Mol Syndromol — Vol. 5, no.6, p. 259-67 (Aug 26, 2014)
6. • Speech

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   Acquired Uniparental Isodisomy as a Common Somatic 2nd-hit Explains Multifocality of Glomuvenous Malformations

   Amyere, Mustapha[UCL] (2010) 60th Annual Meeting of the American Society of Human Genetics — Washington, DC, USA
7. • Journal article

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

   Veithen, A. Amyere, Mustapha[UCL] Van Der Smissen, Patrick[UCL] Cupers, P. Courtoy, Pierre J.[UCL] (1998) Journal of cell science — Vol. 111 ( Pt 16), p. 2329-35 (1998)
8. • Journal article

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   Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.

   Amyere, Mustapha[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Pairet, Eleonore[UCL] Baselga, Eulalia Cordisco, Maria Chung, Wendy Dubois, Josée Lacour, Jean-Philippe Martorell, Loreto Mazereeuw-Hautier, Juliette Pyeritz, Reed E. Amor, David J. Bisdorff, Anouck Blei, Francine Bombei, Hannah Dompmartin, Anne Brooks, David J. González-Enseñat, Maria Antonia Frieden, Ilona Gerard, Marion Kvarnung, Malin Kwan Hanson-Kahn, Andrea Hudgins, Louanne Leaute-Labreze, Christine McCuaig, Catherine Metry, Denise Parent, Philippe Paul, Carle Petit, Florence Phan, Alice Quere, Isabelle Salhi, Aicha Turner, Anne Vabres, Pierre Vicente, Asuncion Wargon, Orli Watanabe, Shoji Weibel, Lisa Wilson, Ashley Willing, Marcia Mulliken, John B. Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) Circulation — Vol. 136, no. 11, p. 1037-1048 (2017)
9. • Journal article

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

   Ben Rebeh, Imen Benzina, Zeineb Dhouib, Houria Hadjamor, Imen Amyere, Mustapha[UCL] Ayadi, Leila Turki, Khalil Hammami, Bouthaina Kmiha, Noureddine Kammoun, Hassen Hakim, Bochra Charfedine, Ilhem Vikkula, Miikka[UCL] Ghorbel, Abdelmonem Ayadi, Hammadi Masmoudi, Saber (2008) Molecular vision — Vol. 14, p. 1719-26 (2008)
10. • Speech

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    Acquired Uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformation

    Amyere, Mustapha[UCL] Aerts, Virginie[UCL] Duhoux, François[UCL] Brouillard, Pascal[UCL] Wassef, Michel Enjolras, Odile Mulliken, John B Poirel, Hélène[UCL] Devuyst, Olivier[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2010) 10th Annual Meeting of the Belgian Society of Human Genetics — Ghent
11. • Speech

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

    Amyere, Mustapha[UCL] (2006) Séminaire — Auditoire Maisin de l'UCL, Bruxelles, Belgique
12. • BookChapter

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    Genetics of Arteriovenous Malformations

    Amyere, Mustapha[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) Brain Arteriovenous Malformations : Pathogenesis, Epidemiology, Diagnosis, Treatment and Outcome — [ISBN : 978-3-319-63963-5]
13. • Speech

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    Deciphering the genetic background of high-risk BRCA 1/2 mutation-negative breast cancer patients

    van Marcke, Cédric[UCL] Schoonjans, Céline[UCL] Helaers, Raphaël[UCL] Amyere, Mustapha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2016) First Joint Meeting of the Belgian Society of Human Genetics & Dutch Society for Human Genetics — Leuven
14. • Journal article

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

    Gianfrancesco, Fernando Rendina, Domenico Merlotti, Daniela Esposito, Teresa Amyere, Mustapha Formicola, Daniela Muscariello, Riccardo De Filippo, Gianpaolo Strazzullo, Pasquale Nuti, Ranuccio Vikkula, Miikka[UCL] Gennari, Luigi (2013) Journal of Bone and Mineral Research — Vol. 28, no.2, p. 341-50 (2013)
15. • Journal article

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    KITLG mutations cause familial progressive hyper- and hypopigmentation

    Amyere, Mustapha[UCL] Vogt, Thomas Hoo, Joe Brandrup, Flemming Bygum, Anette Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2011) The Journal of Investigative Dermatology — Vol. 131, no. 6, p. 1234-1239 (2011)
16. • Journal article

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

    Knoops, Laurent[UCL] Michaux, Lucienne[UCL] Amyere, Mustapha[UCL] Selleslag, Dominik Van Hees, Joanne[UCL] Girardot, Michaël[UCL] (2009) Cancer Genetics and Cytogenetics — Vol. 192, no. 2, p. 102-4 (2009)
17. • Journal article

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    Chromosome instability is common in human cleavage-stage embryos.

    Vanneste, Evelyne Voet, Thierry Le Caignec, Cédric Ampe, Michèle Konings, Peter Melotte, Cindy Debrock, Sophie Amyere, Mustapha[UCL] Vikkula, Miikka[UCL] Schuit, Frans Fryns, Jean-Pierre Verbeke, Geert D'Hooghe, Thomas Moreau, Yves Vermeesch, Joris R (2009) Nature medicine — Vol. 15, no. 5, p. 577-83 (2009)
18. • Dissertation

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    Régulation de la macropinocytose constitutive dans les fibroblastes transformés par les oncogènes

    Amyere, Mustapha[UCL] (2001)
19. • Journal article

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

    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)
20. • Journal article

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

    Mettlen, Marcel[UCL] Platek, Anna[UCL] Van Der Smissen, Patrick[UCL] Carpentier, Sarah[UCL] Amyere, Mustapha[UCL] Lanzetti, Letizia de Diesbach, Philippe[UCL] Tyteca, Donatienne[UCL] Courtoy, Pierre J.[UCL] (2006) Traffic — Vol. 7, no. 5, p. 589-603 (2006)
21. • Journal article

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

    Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Pierrot, Nathalie[UCL] Collard, François[UCL] Amyere, Mustapha[UCL] Noël, Gaëtane[UCL] Desmedt, Jonathan[UCL] Nassogne, Marie-Cécile[UCL] Vikkula, Miikka[UCL] Octave, Jean-Noël[UCL] Vincent, Marie-Françoise[UCL] Courtoy, Pierre J.[UCL] Boltshauser, Eugen Van Schaftingen, Emile[UCL] (2010) Biochemical Journal — Vol. 425, no. 1, p. 127-136 (2010)
22. • Journal article

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

    Persu, Alexandre[UCL] Amyere, Mustapha[UCL] Gutierrez-Roelens, Ilse[UCL] Rustin, Pierre Sempoux, Christine[UCL] Lecouvet, Frédéric[UCL] Van Beers, Bernard[UCL] Horsmans, Yves[UCL] De Plaen, Jean-François[UCL] Hamoir, Marc[UCL] Vikkula, Miikka[UCL] (2009) Journal of Hypertension — Vol. 27, no. 1, p. 76-82 (2009)
23. • Speech

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    Acquired uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformations

    Vikkula, Miikka[UCL] Aerts, Virginie[UCL] Duhoux, François[UCL] Brouillard, Pascal[UCL] Wassef, Michel Enjolras, Odile Mulliken, John B Poirel, Hélène[UCL] Devuyst, Olivier[UCL] Boon, Laurence M.[UCL] Amyere, Mustapha[UCL] (2010) European Human Genetics Conference — Goeteborg, Suède
24. • Journal article

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

    Platek, Anna[UCL] Mettlen, Marcel[UCL] Camby, Isabelle[UCL] Kiss, Robert Amyere, Mustapha[UCL] Courtoy, Pierre J.[UCL] (2004) Journal of cell science — Vol. 117, no. Pt 20, p. 4849-61 (2004)
25. • Journal article

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

    Amyere, Mustapha[UCL] Mettlen, Marcel[UCL] Van Der Smissen, Patrick[UCL] Platek, Anna[UCL] Payrastre, Bernard Veithen, Alex[UCL] Courtoy, Pierre J.[UCL] (2002) International Journal of Medical Microbiology — Vol. 291, no. 6-7, p. 487-494 (2002)

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