Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data

por Boutry, Simon, Helaers, Raphaël, Lenaerts, Tom, Vikkula, Miikka
Publicado 2023

Genomics of Fibromuscular Dysplasia

por Di Monaco, Silvia, Georges, Adrien, Lengelé, Jean-Philippe, Vikkula, Miikka, Persu, Alexandre
Publicado 2018

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

por Canaud, Guillaume, Hammill, Adrienne M., Adams, Denise, Vikkula, Miikka, Keppler-Noreuil, Kim M.
Publicado 2021

Recalibrating vascular malformations and mechanotransduction by pharmacological intervention

por Abdelilah-Seyfried, Salim, Iruela-Arispe, M. Luisa, Penninger, Josef M., Tournier-Lasserve, Elisabeth, Vikkula, Miikka, Cleaver, Ondine
Publicado 2022

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

por Papadimitriou, Sofia, Gravel, Barbara, Nachtegael, Charlotte, De Baere, Elfride, Loeys, Bart, Vikkula, Miikka, Smits, Guillaume, Lenaerts, Tom
Publicado 2022

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

por Jha, Sawan Kumar, Rauniyar, Khushbu, Karpanen, Terhi, Leppänen, Veli-Matti, Brouillard, Pascal, Vikkula, Miikka, Alitalo, Kari, Jeltsch, Michael
Publicado 2017

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients

por Demeer, Bénédicte, Revencu, Nicole, Helaers, Raphael, Gbaguidi, Cica, Dakpe, Stéphanie, François, Geneviève, Devauchelle, Bernard, Bayet, Bénédicte, Vikkula, Miikka
Publicado 2019

Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

por Limaye, Nisha, Wouters, Vinciane, Uebelhoer, Melanie, Tuominen, Marjut, Wirkkala, Riikka, Mulliken, John B., Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Publicado 2008

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

por Narasimhaiah, Deepti, Legrand, Catherine, Damotte, Diane, Remark, Romain, Munda, Marco, De Potter, Patrick, Coulie, Pierre G., Vikkula, Miikka, Godfraind, Catherine
Publicado 2019

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

por Homayun-Sepehr, Nassim, McCarter, Anna L., Helaers, Raphaël, Galant, Christine, Boon, Laurence M., Brouillard, Pascal, Vikkula, Miikka, Dellinger, Michael T.
Publicado 2021

Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma

por Jinnin, Masatoshi, Medici, Damian, Park, Lucy, Limaye, Nisha, Liu, Yanqiu, Boscolo, Elisa, Bischoff, Joyce, Vikkula, Miikka, Boye, Eileen, Olsen, Bjorn R.
Publicado 2008

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

por Persu, Alexandre, Evenepoel, Lucie, Jin, Yu, Mendola, Antonella, Ngueta, Gérard, Yang, Wen-Yi, Gruson, Damien, Horman, Sandrine, Staessen, Jan A., Vikkula, Miikka
Publicado 2016

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

por Smeland, Marie F., Brouillard, Pascal, Prescott, Trine, Boon, Laurence M, Hvingel, Bodil, Nordbakken, Cecilie V, Nystad, Mona, Holla, Øystein L., Vikkula, Miikka
Publicado 2023

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

por Copelli, Matheus de Mello, Pairet, Eleonore, Atique-Tacla, Milena, Vieira, Társis Paiva, Appenzeller, Simone, Helaers, Raphaël, Vikkula, Miikka, Gil-da-Silva-Lopes, Vera Lúcia
Publicado 2023

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

por de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes
Publicado 2014

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

por Hammer, Jennifer, Seront, Emmanuel, Duez, Steven, Dupont, Sophie, Van Damme, An, Schmitz, Sandra, Hoyoux, Claire, Chopinet, Caroline, Clapuyt, Philippe, Hammer, Frank, Vikkula, Miikka, Boon, Laurence M.
Publicado 2018

Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

por Rousseau, Emmanuel, Palm, Thomas, Scaravilli, Francesco, Ruchoux, Marie-Magdeleine, Figarella-Branger, Dominique, Salmon, Isabelle, Ellison, David, Lacroix, Catherine, Chapon, Françoise, Mikol, Jacqueline, Vikkula, Miikka, Godfraind, Catherine
Publicado 2007

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

por Martinez-Corral, Ines, Zhang, Yan, Petkova, Milena, Ortsäter, Henrik, Sjöberg, Sofie, Castillo, Sandra D., Brouillard, Pascal, Libbrecht, Louis, Saur, Dieter, Graupera, Mariona, Alitalo, Kari, Boon, Laurence, Vikkula, Miikka, Mäkinen, Taija
Publicado 2020

Analysing ambiguities in trypanosomatids taxonomy by barcoding

por Boucinha, Carolina, Caetano, Amanda R, Santos, Helena LC, Helaers, Raphael, Vikkula, Miikka, Branquinha, Marta Helena, dos Santos, André Luis Souza, Grellier, Philippe, Morelli, Karina Alessandra, d‘Avila-Levy, Claudia Masini
Publicado 2020

Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome

por Simancas Escorcia, Victor, Diarra, Abdoulaziz, Naveau, Adrien, Dessombz, Arnaud, Felizardo, Rufino, Cannaya, Vidjeacoumary, Chatziantoniou, Christos, Quentric, Mickaël, Vikkula, Miikka, Cases, Olivier, Berdal, Ariane, De La Dure-Molla, Muriel, Kozyraki, Renata
Publicado 2020