Theo dõi
Pascal Brouillard
Pascal Brouillard
Platform Manager, Institut de Duve, Université catholique de Louvain
Email được xác minh tại uclouvain.be
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
Genetics of lymphatic anomalies
P Brouillard, L Boon, M Vikkula
The Journal of clinical investigation 124 (3), 898-904, 2014
3772014
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”)
P Brouillard, LM Boon, JB Mulliken, O Enjolras, M Ghassibé, ML Warman, ...
The American Journal of Human Genetics 70 (4), 866-874, 2002
3652002
Genetic causes of vascular malformations
P Brouillard, M Vikkula
Human molecular genetics 16 (R2), R140-R149, 2007
2932007
A gene for inherited cutaneous venous anomalies (" glomangiomas") localizes to chromosome 1p21-22.
MS Vikkula, LM Boon, P Brouillard, A Irrthum, L Karttunen, ML Warman, ...
AMERICAN JOURNAL OF HUMAN GENETICS 65 (4), A17-A17, 1999
194*1999
A gene for inherited cutaneous venous anomalies (“glomangiomas”) localizes to chromosome 1p21-22
LM Boon, P Brouillard, A Irrthum, L Karttunen, ML Warman, R Rudolph, ...
The American Journal of Human Genetics 65 (1), 125-133, 1999
1941999
Vascular malformations: localized defects in vascular morphogenesis
P Brouillard, M Vikkula
Clinical genetics 63 (5), 340-351, 2003
1542003
Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
P Brouillard, M Ghassibé, A Penington, LM Boon, A Dompmartin, ...
Journal of medical genetics 42 (2), e13-e13, 2005
1492005
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3
P Brouillard, L Dupont, R Helaers, R Coulie, GE Tiller, J Peeden, A Colige, ...
Human molecular genetics 26 (21), 4095-4104, 2017
1242017
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3
P Brouillard, L Dupont, R Helaers, R Coulie, GE Tiller, J Peeden, A Colige, ...
Human Molecular Genetics 26 (21), 4095-4104, 2017
1242017
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema
A Mendola, MJ Schlögel, A Ghalamkarpour, A Irrthum, HL Nguyen, ...
Molecular syndromology 4 (6), 257-266, 2013
1122013
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1
SK Jha, K Rauniyar, T Karpanen, VM Leppänen, P Brouillard, M Vikkula, ...
Scientific reports 7 (1), 4916, 2017
1032017
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations
M Amyere, V Aerts, P Brouillard, BAS McIntyre, FP Duhoux, M Wassef, ...
The American Journal of Human Genetics 92 (2), 188-196, 2013
902013
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation
I Martinez-Corral, Y Zhang, M Petkova, H Ortsäter, S Sjöberg, SD Castillo, ...
Nature communications 11 (1), 2869, 2020
882020
Primary lymphoedema
P Brouillard, MH Witte, RP Erickson, RJ Damstra, C Becker, I Quéré, ...
Nature Reviews Disease Primers 7 (1), 77, 2021
842021
Genotypes and phenotypes of 162 families with a glomulin mutation
P Brouillard, LM Boon, N Revencu, J Berg, A Dompmartin, J Dubois, ...
Molecular syndromology 4 (4), 157-164, 2013
672013
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
N Revencu, E Fastre, M Ravoet, R Helaers, P Brouillard, ...
Journal of medical genetics 57 (1), 48-52, 2020
652020
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib
N Homayun-Sepehr, AL McCarter, R Helaers, C Galant, LM Boon, ...
JCI insight 6 (15), e149831, 2021
622021
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis
G Dachy, RR de Krijger, S Fraitag, I Théate, B Brichard, SB Hoffman, ...
JAMA dermatology 155 (8), 946-950, 2019
622019
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis
G Dachy, RR de Krijger, S Fraitag, I Théate, B Brichard, SB Hoffman, ...
JAMA dermatology 155 (8), 946-950, 2019
622019
High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21–p22
P Brouillard, BR Olsen, M Vikkula
Genomics 67 (1), 96-101, 2000
482000
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