Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist

por Limenis, Elizaveta, Stimec, Jennifer, Kannu, Peter, Laxer, Ronald M.
Publicado 2021

SUN-093 Prospective Clinical Assessment Study in Children with Achondroplasia: The PROPEL Trial

por Savarirayan, Ravi, Kannu, Peter, Dambkowski, Carl L, Rogoff, Daniela, Irving, Melita
Publicado 2020

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

por Ghafoor, Saima, Silveira, Karina da Costa, Qamar, Raheel, Azam, Maleeha, Kannu, Peter
Publicado 2022

Severe phenotype of X‐linked dominant chondrodysplasia punctata

por Damseh, Nadirah, Chong, Karen, Marshall, Christian, Kratz, Lisa, Teitelbaum, Ronni, Shannon, Patrick, Kannu, Peter
Publicado 2017

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

por Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal
Publicado 2019

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease

por Reis, Linda M., Atilla, Huban, Kannu, Peter, Schneider, Adele, Thompson, Samuel, Bardakjian, Tanya, Semina, Elena V.
Publicado 2023

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

por Damseh, Nadirah, Stimec, Jennifer, O’Brien, Alan, Marshall, Christian, Savarirayan, Ravi, Jawad, Ali, Laxer, Ronald, Kannu, Peter
Publicado 2019

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

por Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter
Publicado 2017

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

por Shao, Zhuo, Masuho, Ikuo, Tumber, Anupreet, Maynes, Jason T., Tavares, Erika, Ali, Asim, Hewson, Stacy, Schulze, Andreas, Kannu, Peter, Martemyanov, Kirill A., Vincent, Ajoy
Publicado 2021

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

por Almubarak, Asra, Zhang, Dan, Kosak, Mackenzie, Rathwell, Sarah, Doonanco, Jasmine, Eaton, Alison J., Kannu, Peter, Lazier, Joanna, Lui, Monique, Niederhoffer, Karen Y., MacPherson, Melissa J., Sorsdahl, Melissa, Caluseriu, Oana
Publicado 2022

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

por Flores Pimentel, Mariana, Heath, Anna, Wan, Michael J., Hussein, Rowaida, Leahy, Kate E., MacDonald, Heather, Tavares, Erika, VandenHoven, Cynthia, MacNeill, Katelyn, Kannu, Peter, Parkin, Patricia C., Heon, Elise, Reginald, Arun, Vincent, Ajoy
Publicado 2022

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

por Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
Publicado 2011

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

por Silveira, Karina C., Fonseca, Inara Chacon, Oborn, Connor, Wengryn, Parker, Ghafoor, Saima, Beke, Alexander, Dreseris, Ema S., Wong, Cassandra, Iacovone, Aline, Soltys, Carrie-Lynn, Babul-Hirji, Riyana, Artigalas, Osvaldo, Antolini-Tavares, Arthur, Gingras, Anne-Claude, Campos, Eric, Cavalcanti, Denise P., Kannu, Peter
Publicado 2023

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

por Kent, Oliver A., Saha, Manipa, Coyaud, Etienne, Burston, Helen E., Law, Napoleon, Dadson, Keith, Chen, Sujun, Laurent, Estelle M., St-Germain, Jonathan, Sun, Ren X., Matsumoto, Yoshinori, Cowen, Justin, Montgomery-Song, Aaryn, Brown, Kevin R., Ishak, Charles, Rose, Jose La, De Carvalho, Daniel D., He, Housheng Hansen, Raught, Brian, Billia, Filio, Kannu, Peter, Rottapel, Robert
Publicado 2020

THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, Salles, Jean Pierre, Leiva-Gea, Antonio, Irving, Melita, Saraff, Vrinda, McDevitt, Helen, Salcedo, Maria, Nicolino, Marc P, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Candler, Toby, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Muslimova, Elena, Cho, Terry, Weng, Richard, Rogoff, Daniela
Publicado 2023

RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia

por Irving, Melita, De Bergua, Josep Maria, Rogoff, Daniela, Savarirayan, Ravi, Arundel, Paul, Pierre Salles, Jean, Leiva-Gea, Antonio, Saraff, Vrinda, McDevitt, Helen, Santos-Simarro, Fernando, Nicolino, Marc, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Burren, Christine, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Weng, Richard, Muslimova, Elena, Cho, Terry
Publicado 2022

PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study

por Rogoff, Daniela, Bergua, Josep Maria De, Savarirayan, Ravi, Arundel, Paul, Salles, Jean Pierre, Leiva-Gea, Antonio, Irving, Melita, Saraff, Vrinda, McDevitt, Helen, Santos-Simarro, Fernando, Nicolino, Marc, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Burren, Christine, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Muslimova, Elena, Cho, Terry, Weng, Richard
Publicado 2022

THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Salcedo, Maria, Salles, Jean-Pierre, Nicolino, Marc P, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B, Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Candler, Toby, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2023

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2022

PSAT106 Infigratinib in Children with Achondroplasia: Design of the PROPEL, PROPEL2 and PROPEL OLE Studies

por Muslimova, Elena, De Bergua, Josep Maria, Savarirayan, Ravi, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Pierre Salles, Jean, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B, Phillips III, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2022