Pierre Vabres
Pierre Vabres
PU-PH, CHU de Dijon, Université de Bourgogne
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Genomic rearrangement in NEMO impairs NF-[kappa] B activation and is a cause of incontinentia pigmenti
A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ...
Nature 405 (6785), 466-473, 2000
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
V Oji, G Tadini, M Akiyama, CB Bardon, C Bodemer, E Bourrat, ...
Journal of the American Academy of Dermatology 63 (4), 607-641, 2010
A randomized, controlled trial of oral propranolol in infantile hemangioma
C Léauté-Labrèze, P Hoeger, J Mazereeuw-Hautier, L Guibaud, ...
New England Journal of Medicine 372 (8), 735-746, 2015
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ...
Nature 480 (7375), 94-98, 2011
First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open …
P Joly, M Maho-Vaillant, C Prost-Squarcioni, V Hebert, E Houivet, S Calbo, ...
The Lancet 389 (10083), 2031-2040, 2017
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease
S Hadj-Rabia, L Baala, P Vabres, D Hamel-Teillac, E Jacquemin, M Fabre, ...
Gastroenterology 127 (5), 1386-1390, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ...
Human molecular genetics 13 (20), 2493-2503, 2004
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
V Bubien, F Bonnet, V Brouste, S Hoppe, E Barouk-Simonet, A David, ...
Journal of medical genetics 50 (4), 255-263, 2013
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
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
Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis
J Mazereeuw-Hautier, PH Hoeger, S Benlahrech, A Ammour, P Broue, ...
The Journal of pediatrics 157 (2), 340-342, 2010
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis
AC Thomas, Z Zeng, JB Rivière, R O’shaughnessy, L Al-Olabi, JS Onge, ...
Journal of Investigative Dermatology 136 (4), 770-778, 2016
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ...
Genetics in Medicine 20 (6), 645-654, 2018
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
F Caux, H Plauchu, F Chibon, L Faivre, O Fain, P Vabres, F Bonnet, ...
European journal of human genetics 15 (7), 767-773, 2007
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
VER Parker, KM Keppler-Noreuil, L Faivre, M Luu, NL Oden, L De Silva, ...
Genetics in Medicine 21 (5), 1189-1198, 2019
Diagnostic and predictive value of skin testing in platinum salt hypersensitivity
V Leguy-Seguin, G Jolimoy, B Coudert, C Pernot, S Dalac, P Vabres, ...
Journal of allergy and clinical immunology 119 (3), 726-730, 2007
Propranolol for treatment of ulcerated infantile hemangiomas
M Saint-Jean, C Léauté-Labrèze, J Mazereeuw-Hautier, N Bodak, ...
Journal of the American Academy of Dermatology 64 (5), 827-832, 2011
Prospective multicenter study of pegylated liposomal doxorubicin treatment in patients with advanced or refractory mycosis fungoides or Sézary syndrome
G Quereux, S Marques, JM Nguyen, C Bedane, M D’incan, O Dereure, ...
Archives of dermatology 144 (6), 727-733, 2008
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ...
The American Journal of Human Genetics 91 (5), 950-957, 2012
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