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nicole revencu
nicole revencu
Centre de Génétique Humaine, Cliniques universitaires Saint-Luc, Université catholique de Louvain
Verified email at uclouvain.be
Title
Cited by
Cited by
Year
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ...
Nature genetics 42 (6), 483-485, 2010
5862010
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ...
Human mutation 29 (7), 959-965, 2008
4442008
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain 137 (6), 1676-1700, 2014
2902014
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
brain, 1676-700, 2014
290*2014
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ...
Human mutation 34 (12), 1632-1641, 2013
2752013
Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling
M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ...
Circulation 136 (11), 1037-1048, 2017
2382017
Cerebral cavernous malformation: new molecular and clinical insights
N Revencu, M Vikkula
Journal of medical genetics 43 (9), 716-721, 2006
2072006
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ...
European Journal of Human Genetics 20 (4), 381-388, 2012
1902012
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1762014
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium …
RLL de Lima, SA Hoper, M Ghassibe, ME Cooper, NK Rorick, S Kondo, ...
Genetics in medicine 11 (4), 241-247, 2009
1552009
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population
M Ghassibé, B Bayet, N Revencu, C Verellen-Dumoulin, Y Gillerot, ...
European journal of human genetics 13 (11), 1239-1242, 2005
1222005
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
C Fallet-Bianco, A Laquerrière, K Poirier, F Razavi, F Guimiot, P Dias, ...
Acta neuropathologica communications 2, 1-22, 2014
1172014
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ...
Clinical genetics 84 (6), 539-545, 2013
1132013
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
O Vanakker, C Vilain, K Janssens, N Van der Aa, G Smits, C Bandelier, ...
European journal of medical genetics 57 (4), 151-156, 2014
1072014
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
M Basha, B Demeer, N Revencu, R Helaers, S Theys, SB Saba, O Boute, ...
Journal of medical genetics 55 (7), 449-458, 2018
1032018
A novel association between RASA1 mutations and spinal arteriovenous anomalies
R Thiex, JB Mulliken, N Revencu, LM Boon, PE Burrows, M Cordisco, ...
American journal of neuroradiology 31 (4), 775-779, 2010
942010
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
862019
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, ...
Journal of medical genetics 41 (2), e15-e15, 2004
842004
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
TA Briggs, GI Rice, N Adib, L Ades, S Barete, K Baskar, V Baudouin, ...
Journal of clinical immunology 36, 220-234, 2016
792016
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish
M Ghassibe-Sabbagh, L Desmyter, T Langenberg, F Claes, O Boute, ...
The American Journal of Human Genetics 88 (2), 150-161, 2011
692011
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