Philippe M Campeau
Philippe M Campeau
CHU Sainte Justine
Adresse e-mail validée de umontreal.ca - Page d'accueil
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Hereditary breast cancer: new genetic developments, new therapeutic avenues
PM Campeau, WD Foulkes, MD Tischkowitz
Human genetics 124 (1), 31-42, 2008
3922008
Mesenchymal stromal cells ameliorate experimental autoimmune encephalomyelitis by inhibiting CD4 Th17 T cells in a CC chemokine ligand 2-dependent manner
M Rafei, PM Campeau, A Aguilar-Mahecha, M Buchanan, P Williams, ...
The Journal of Immunology 182 (10), 5994-6002, 2009
3702009
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ...
New England Journal of Medicine 368 (19), 1809-1816, 2013
2542013
miRNA-34c regulates Notch signaling during bone development
Y Bae, T Yang, HC Zeng, P Campeau, Y Chen, T Bertin, B Dawson, ...
Hum Mol Genet, 2012
2022012
Requirement of argininosuccinate lyase for systemic nitric oxide production
A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ...
Nature medicine 17 (12), 1619-1626, 2011
1652011
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
1612017
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ...
Nature genetics 47 (6), 661-667, 2015
1222015
A recurrent PDGFRB mutation causes familial infantile myofibromatosis
YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ...
The American Journal of Human Genetics 92 (6), 996-1000, 2013
1112013
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ...
The American Journal of Human Genetics, 2012
1102012
The genetic basis of DOORS syndrome: an exome sequencing study
P Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology, n/a-n/a, 2013
1082013
Transfection of large plasmids in primary human myoblasts
P Campeau, P Chapdelaine, S Seigneurin-Venin, B Massie, JP Tremblay
Gene Therapy 8 (18), 1387-1394, 2001
1052001
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ...
The American Journal of Human Genetics 92 (5), 781-791, 2013
972013
Model organisms facilitate rare disease diagnosis and therapeutic research
MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ...
Genetics 207 (1), 9-27, 2017
872017
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders
LC Burrage, SCS Nagamani, PM Campeau, BH Lee
Human molecular genetics 23 (R1), R1-R8, 2014
832014
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome
PM Campeau, M Rafei, MN Boivin, Y Sun, GA Grabowski, J Galipeau
Blood, The Journal of the American Society of Hematology 114 (15), 3181-3190, 2009
832009
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ...
The American Journal of Human Genetics 96 (5), 816-825, 2015
792015
Genotype-Phenotype Correlation: Promiscuity in the Era of Next-Generation Sequencing
JT Lu, PM Campeau, BH Lee
N Engl J Med 371 (7), 593-596, 2014
772014
Long-term outcome in methylmalonic aciduria: a series of 30 French patients
MA Cosson, JF Benoist, G Touati, M Déchaux, N Royer, L Grandin, ...
Molecular genetics and metabolism 97 (3), 172-178, 2009
682009
The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
PM Campeau, JT Lu, BC Dawson, IFAC Fokkema, SP Robertson, ...
Human mutation 33 (11), 1520-1525, 2012
652012
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria
SCS Nagamani, PM Campeau, OA Shchelochkov, MH Premkumar, ...
The American Journal of Human Genetics 90 (5), 836-846, 2012
632012
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