Các bài viết có thể truy cập công khai - Anne DompmartinTìm hiểu thêm
Có tại một số nơi: 14
Venous malformation: update on aetiopathogenesis, diagnosis and management
A Dompmartin, M Vikkula, LM Boon
Phlebology 25 (5), 224-235, 2010
Các cơ quan ủy nhiệm: US National Institutes of Health
Association of localized intravascular coagulopathy with venous malformations
A Dompmartin, A Acher, P Thibon, S Tourbach, C Hermans, V Deneys, ...
Archives of dermatology 144 (7), 873-877, 2008
Các cơ quan ủy nhiệm: US National Institutes of Health
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
Các cơ quan ủy nhiệm: National Fund for Scientific Research, Belgium
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
Các cơ quan ủy nhiệm: US National Institutes of Health, National Fund for Scientific Research, Belgium
Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations
J Soblet, J Kangas, M Nätynki, A Mendola, R Helaers, M Uebelhoer, ...
Journal of Investigative Dermatology 137 (1), 207-216, 2017
Các cơ quan ủy nhiệm: US National Institutes of Health, National Fund for Scientific Research, Belgium
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects
V Wouters, N Limaye, M Uebelhoer, A Irrthum, LM Boon, JB Mulliken, ...
European Journal of Human Genetics 18 (4), 414-420, 2010
Các cơ quan ủy nhiệm: US National Institutes of Health
Elevated D-dimer level in the differential diagnosis of venous malformations
A Dompmartin, F Ballieux, P Thibon, A Lequerrec, C Hermans, P Clapuyt, ...
Archives of dermatology 145 (11), 1239-1244, 2009
Các cơ quan ủy nhiệm: US National Institutes of Health
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
Các cơ quan ủy nhiệm: US National Institutes of Health
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
P Brouillard, MJ Schlögel, N Homayun Sepehr, R Helaers, A Queisser, ...
Orphanet journal of rare diseases 16 (1), 267, 2021
Các cơ quan ủy nhiệm: National Fund for Scientific Research, Belgium
Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformation s
LM Boon, V Dekeuleneer, J Coulie, L Marot, AC Bataille, F Hammer, ...
Nature Cardiovascular Research 1 (6), 562-567, 2022
Các cơ quan ủy nhiệm: National Fund for Scientific Research, Belgium
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations
E Seront, A Van Damme, C Legrand, A Bisdorff-Bresson, P Orcel, ...
JCI insight 8 (21), e173095, 2023
Các cơ quan ủy nhiệm: Swiss National Science Foundation, National Fund for Scientific Research …
GNA11‐mutated Sturge–Weber syndrome has distinct neurological and dermatological features
A Dompmartin, CJM van der Vleuten, V Dekeuleneer, T Duprez, ...
European journal of neurology 29 (10), 3061-3070, 2022
Các cơ quan ủy nhiệm: National Fund for Scientific Research, Belgium
Common somatic alterations identified in maffucci syndrome by molecular karyotyping
M Amyere, A Dompmartin, V Wouters, O Enjolras, I Kaitila, PL Docquier, ...
Molecular syndromology 5 (6), 259-267, 2014
Các cơ quan ủy nhiệm: US National Institutes of Health, National Fund for Scientific Research, Belgium
Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with capillary malformation with dilated veins (CMDV)
M De Bortoli, A Queisser, VC Pham, A Dompmartin, R Helaers, S Boutry, ...
Journal of Investigative Dermatology 144 (9), 2066-2077. e6, 2024
Các cơ quan ủy nhiệm: Swiss National Science Foundation, National Fund for Scientific Research …
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