Nicole Revencu
AuthID: R-00G-JTE
1
TITLE: Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
AUTHORS: Mustapha Amyere; Nicole Revencu; Raphael Helaers; Eleonore Pairet; Eulalia Baselga; Maria Cordisco; Wendy Chung; Josee Dubois; Jean Philippe Lacour; Loreto Martorell; Juliette Mazereeuw Hautier; Reed E Pyeritz; David J Amor; Annouk Bisdorff; Francine Blei; Hannah Bombei; Anne Dompmartin; David Brooks; Juliette Dupont; Maria Antonia Gonzalez Enseat; ...More
PUBLISHED: 2017, SOURCE: CIRCULATION, VOLUME: 136, ISSUE: 11
AUTHORS: Mustapha Amyere; Nicole Revencu; Raphael Helaers; Eleonore Pairet; Eulalia Baselga; Maria Cordisco; Wendy Chung; Josee Dubois; Jean Philippe Lacour; Loreto Martorell; Juliette Mazereeuw Hautier; Reed E Pyeritz; David J Amor; Annouk Bisdorff; Francine Blei; Hannah Bombei; Anne Dompmartin; David Brooks; Juliette Dupont; Maria Antonia Gonzalez Enseat; ...More
PUBLISHED: 2017, SOURCE: CIRCULATION, VOLUME: 136, ISSUE: 11
INDEXED IN: 
WOS
WOS2
TITLE: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
AUTHORS: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
AUTHORS: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
3
TITLE: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome Full Text
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6
4
TITLE: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Full Text
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
