Search Results - "Revençu, Nicole"

FOXP1 -related intellectual disability syndrome: a recognisable entity by Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy Jl, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert

“…Mutations in forkhead box protein P1 ( ) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM:…”
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Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus by Seront, Emmanuel, Froidure, Antoine, Revencu, Nicole, Dekeuleneer, Valerie, Clapuyt, Philippe, Dumitriu, Dana, Vikkula, Miikka, Boon, Laurence M

“…Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum…”
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome by Veltman, Joris A, Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A

“…Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected…”
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Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

“…Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The…”
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance by Jacquemin, Valerie, Versbraegen, Nassim, Duerinckx, Sarah, Massart, Annick, Soblet, Julie, Perazzolo, Camille, Deconinck, Nicolas, Brischoux-Boucher, Elise, De Leener, Anne, Revencu, Nicole, Janssens, Sandra, Moorgat, Stèphanie, Blaumeiser, Bettina, Avela, Kristiina, Touraine, Renaud, Abou Jaoude, Imad, Keymolen, Kathelijn, Saugier-Veber, Pascale, Lenaerts, Tom, Abramowicz, Marc, Pirson, Isabelle

“…Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal…”
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Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations by Seront, Emmanuel, Van Damme, An, Legrand, Catherine, Bisdorff-Bresson, Annouk, Orcel, Philippe, Funck-Brentano, Thomas, Sevestre, Marie-Antoinette, Dompmartin, Anne, Quere, Isabelle, Brouillard, Pascal, Revencu, Nicole, De Bortoli, Martina, Hammer, Frank, Clapuyt, Philippe, Dumitriu, Dana, Vikkula, Miikka, Boon, Laurence M

“…BACKGROUNDSlow-flow vascular malformations frequently harbor activating mutations in the PI3K/AKT/mTOR cascade. Phase II trials pinpointed sirolimus…”
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Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin by Adham, Salma, Revencu, Nicole, Mestre, Sandrine, Nou‐Howaldt, Monira, Vernhet‐Kovacsik, Hélène, Quéré, Isabelle

“…Background Venous malformations (VMs) are the most common vascular anomalies and have been associated with somatic variants in TEK. Current treatment of VM…”
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Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers–Danlos syndrome by Caroline Henrard, Hendrica Belge, Sophie Fastré, Silvia Di Monaco, Nicole Revencu, Frank Hammer, Agnès Pasquet, Alexandre Persu

“…We report the case of a 42-year-old patient referred for suspicion of fibromuscular dysplasia in the context of a carotid artery dissection occurring after a…”
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Exploring the genetic basis of 3MC syndrome: Findings in 12 further families by Urquhart, Jill, Roberts, Rebecca, de Silva, Deepthi, Shalev, Stavit, Chervinsky, Elena, Nampoothiri, Sheela, Sznajer, Yves, Revencu, Nicole, Gunasekera, Romesh, Suri, Mohnish, Ellingford, Jamie, Williams, Simon, Bhaskar, Sanjeev, Clayton-Smith, Jill

“…The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched…”
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Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype by Tas, Berivan, Starnoni, Daniele, Smajda, Stanislas, Vivanti, Alexandre J, Adamsbaum, Catherine, Eyries, Mélanie, Melki, Judith, Tawk, Marcel, Ozanne, Augustin, Revencu, Nicole, Soubrier, Florent, Siala, Selima, Vikkula, Miikka, Deiva, Kumaran, Saliou, Guillaume

“…To study the genotypes and phenotypes of cerebral arteriovenous fistulas that drain or do not drain through the vein of Galen, and true vein of Galen…”
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Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis by Sturiale, Luisa, Nassogne, Marie-Cécile, Palmigiano, Angelo, Messina, Angela, Speciale, Immacolata, Artuso, Rosangela, Bertino, Gaetano, Revencu, Nicole, Stephénne, Xavier, De Castro, Cristina, Matthijs, Gert, Barone, Rita, Jaeken, Jaak, Garozzo, Domenico

“…Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological…”
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey by Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

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Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2 by Ghalamkarpour, Arash, MD, Debauche, Christian, MD, Haan, Eric, BMedSc, MBBS, FRACP, Van Regemorter, Nicole, MD, Sznajer, Yves, MD, Thomas, Dominique, MD, Revencu, Nicole, MD, Gillerot, Yves, MD, Boon, Laurence M., MD, PhD, Vikkula, Miikka, MD, PhD

“…Objectives To investigate the genetic causes of idiopathic sporadic prenatal generalized edema. Study design In a series of 12 patients, in whom in utero…”
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Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease by Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-Guillaume

“…A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial…”
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Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC) by Ranji, Peyman, Pairet, Eleonore, Helaers, Raphael, Bayet, Bénédicte, Gerdom, Alexander, Gil-da-Silva-Lopes, Vera Lúcia, Revencu, Nicole, Vikkula, Miikka

“…Abstract The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify…”
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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 by Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E, Amor, David J, Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, 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, Vikkula, Miikka

“…Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as…”
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Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema by Brouillard, Pascal, Murtomaki, Aino, Leppanen, Veli-Matti, Hyytiainen, Marko, Mestre, Sandrine, Potier, Lucas, Boon, Laurence M, Revencu, Nicole, Greene, Arin, Anisimov, Andrey, Salo, Miia H, Hinttala, Reetta, Eklund, Lauri, Quere, Isabelle, Alitalo, Kari, Vikkula, Miikka

“…Primary lymphedema (PL), characterized by tissue swelling, fat accumulation, and fibrosis, results from defects in lymphatic vessels or valves caused by…”
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Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema by Brouillard, Pascal, Murtomäki, Aino, Leppänen, Veli-Matti, Hyytiäinen, Marko, Mestre, Sandrine, Potier, Lucas, Boon, Laurence M, Revencu, Nicole, Greene, Arin K, Anisimov, Andrey, Salo, Miia H, Hinttala, Reetta, Eklund, Lauri, Quéré, Isabelle, Alitalo, Kari, Vikkula, Miikka

“…Primary lymphedema (PL), characterized by tissue swelling, fat accumulation and fibrosis, results from defective lymphatic vessels or valves caused by…”
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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function by Alpaslan, Murat, Fastré, Elodie, Mestre, Sandrine, van Haeringen, Arie, Repetto, Gabriela M, Keymolen, Kathelijn, Boon, Laurence M, Belva, Florence, Giacalone, Guido, Revencu, Nicole, Sznajer, Yves, Riches, Katie, Keeley, Vaughan, Mansour, Sahar, Gordon, Kristiana, Martin-Almedina, Silvia, Dobbins, Sara, Ostergaard, Pia, Quere, Isabelle, Brouillard, Pascal, Vikkula, Miikka

“…Developmental and functional defects in the lymphatic system are responsible for primary lymphoedema (PL). PL is a chronic debilitating disease caused by…”
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