Genetics of the patella

nork Samuels, Mark E., Campeau, Philippe M.
Argitaratua izan da Eur J Hum Genet (2019)

Disrupted minor intron splicing is prevalent in Mendelian disorders

nork Olthof, Anouk M., Rasmussen, Jeffrey S., Campeau, Philippe M., Kanadia, Rahul N.
Argitaratua izan da Mol Genet Genomic Med (2020)

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

nork Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Argitaratua 2014

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

nork Moisan, Lina, Iannuzzi, David, Maranda, Bruno, Campeau, Philippe M., Mitchell, John J.
Argitaratua izan da Orphanet J Rare Dis (2020)

Mesenchymal Stromal Cells Engineered to Express Erythropoietin Induce Anti-erythropoietin Antibodies and Anemia in Allorecipients

nork Campeau, Philippe M, Rafei, Moutih, François, Moïra, Birman, Elena, Forner, Kathy-Ann, Galipeau, Jacques
Argitaratua 2008

Genetic Testing in a Cohort of Complex Esophageal Atresia

nork Beauregard-Lacroix, Eliane, Tardif, Jessica, Lemyre, Emmanuelle, Kibar, Zoha, Faure, Christophe, Campeau, Philippe M.
Argitaratua izan da Mol Syndromol (2017)

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

nork Trejo, Pamela, Rauch, Frank, Glorieux, Francis H., Ouellet, Jean, Benaroch, Thierry, Campeau, Philippe M.
Argitaratua izan da Mol Syndromol (2017)

Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study

nork Campeau, Philippe M, Pivalizza, Penelope J, Miller, Geoffrey, Karpen, Saul, Goss, John, Lee, Brendan H
Argitaratua 2010

Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome

nork Campeau, Philippe M., Rafei, Moutih, Boivin, Marie-Noëlle, Sun, Ying, Grabowski, Gregory A., Galipeau, Jacques
Argitaratua 2009

Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency

nork Campeau, Philippe M., Astapova, Olga, Martins, Rebecca, Bergeron, Jean, Couture, Patrick, Hegele, Robert A., Leff, Todd, Gagné, Claude
Argitaratua 2012

The Undernourished Neonatal Mouse Metabolome Reveals Evidence of Liver and Biliary Dysfunction, Inflammation, and Oxidative Stress(1)(2)(3)

nork Preidis, Geoffrey A., Keaton, Mignon A., Campeau, Philippe M., Bessard, Brooke C., Conner, Margaret E., Hotez, Peter J.
Argitaratua 2014

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene

nork Grover, Monica, Campeau, Philippe M., Lietman, Caressa Dee, Lu, James T., Gibbs, Richard A., Schlesinger, Alan E., Lee, Brendan H.
Argitaratua 2013

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

nork Diaz Escagedo, Patricia, Fiscaletti, Melissa, Olivier, Patricia, Hudon, Chloé, Miranda, Valancy, Miron, Marie-Claude, Campeau, Philippe M., Alos, Nathalie
Argitaratua izan da BMC Pediatr (2021)

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

nork Baratang, Nissan Vida, Jimenez Cruz, Daniel Alexander, Ajeawung, Norbert Fonya, Nguyen, Thi Tuyet Mai, Pacheco‐Cuéllar, Guillermo, Campeau, Philippe M.
Argitaratua izan da Mol Genet Genomic Med (2019)

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

nork Murali, Chaya, Lu, James T., Jain, Mahim, Liu, David S., Lachman, Ralph, Gibbs, Richard A., Lee, Brendan H., Cohn, Daniel, Campeau, Philippe M.
Argitaratua 2014

The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

nork Campeau, Philippe M, Lu, James T, Dawson, Brian C, Fokkema, Ivo F A C, Robertson, Stephen P, Gibbs, Richard A, Lee, Brendan H
Argitaratua 2012

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene

nork Zádori, Dénes, Szalárdy, Levente, Reisz, Zita, Kovacs, Gabor G., Maszlag-Török, Rita, Ajeawung, Norbert F., Vécsei, László, Campeau, Philippe M., Klivényi, Péter
Argitaratua izan da Front Neurol (2020)

miRNA-34c regulates Notch signaling during bone development

nork Bae, Yangjin, Yang, Tao, Zeng, Huan-Chang, Campeau, Philippe M., Chen, Yuqing, Bertin, Terry, Dawson, Brian C., Munivez, Elda, Tao, Jianning, Lee, Brendan H.
Argitaratua 2012

Early Childhood Presentation of Czech Dysplasia

nork Burrage, Lindsay C., Lu, James T., Liu, David S., Moss, Timothy J., Gibbs, Richard, Schlesinger, Alan E., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan H.
Argitaratua 2013

MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts

nork Zeng, Huan-Chang, Bae, Yangjin, Dawson, Brian C., Chen, Yuqing, Bertin, Terry, Munivez, Elda, Campeau, Philippe M., Tao, Jianning, Chen, Rui, Lee, Brendan H.
Argitaratua izan da Nat Commun (2017)