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41 results for Kannu,+Peter

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Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-09, Vol.11 (1), p.1-12, Article 4673
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Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist
Author / Creator:Limenis, Elizaveta ; Stimec, Jennifer ; Kannu, Peter ; Laxer, Ronald M.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-07, Vol.19 (1), p.113-113, Article 113
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Author / Creator: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
Publisher:London, England: SAGE Publications
Journal title:Therapeutic advances in musculoskeletal disease, 2022-03, Vol.14, p.1759720X221084848-1759720X221084848
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Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?
Author / Creator:Damseh, Nadirah ; Stimec, Jennifer ; O’Brien, Alan ; Marshall, Christian ; Savarirayan, Ravi ; Jawad, Ali ; Laxer, Ronald ; Kannu, Peter
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.156-156, Article 156
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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.37-37
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Perthes’ disease
Author / Creator:Kannu, Peter ; Howard, Andrew
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ (Online), 2014-09, Vol.349 (sep23 2), p.g5584-g5584
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MG-101 Mutations preventing regulated exon skipping of a receptor tyrosine kinase cause a developmental disorder of osteogenesis
Author / Creator:Kannu, Peter
Journal title:Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A1-A1
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Oral Infigratinib Therapy in Children with Achondroplasia
Author / Creator:Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul ; Salles, Jean Pierre ; Saraff, Vrinda ; Delgado, Borja ; Leiva-Gea, Antonio ; McDevitt, Helen ; Nicolino, Marc ; Rossi, Massimiliano ; Salcedo, Maria ; Cormier-Daire, Valerie ; Skae, Mars ; Kannu, Peter ; Phillips, John ; Saal, Howard ; Harmatz, Paul ; Candler, Toby ; Hill, Dawn ; Muslimova, Elena ; Weng, Richard ; Bai, Yun ; Raj, Supriya ; Hoover-Fong, Julie ; Irving, Melita ; Rogoff, Daniela
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2025-02, Vol.392 (9), p.865-874
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Direct Reprogramming of Fibroblasts to Osteoblasts: Techniques and Methodologies
Author / Creator:Fallah, Asghar ; Beke, Alexander ; Oborn, Connor ; Soltys, Carrie-Lynn ; Kannu, Peter
Publisher:US: Oxford University Press
Journal title:Stem cells translational medicine, 2023-12, Vol.13 (4), p.362-370
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Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation
Author / Creator:Kannu, Peter ; Irving, Melita ; Aftimos, Salim ; Savarirayan, Ravi
Publisher:New York: Springer-Verlag
Journal title:Clinical orthopaedics and related research, 2011-06, Vol.469 (6), p.1785-1790
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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-11, Vol.142 (11), p.1571-1586
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Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
Author / Creator:Ghafoor, Saima ; Silveira, Karina da Costa ; Qamar, Raheel ; Azam, Maleeha ; Kannu, Peter
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-09, Vol.13 (10), p.1743
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Unique retinal signaling defect in GNB5-related disease
Author / Creator:Shao, Zhuo ; Tumber, Anupreet ; Maynes, Jason ; Tavares, Erika ; Kannu, Peter ; Heon, Elise ; Vincent, Ajoy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2020-06, Vol.140 (3), p.273-277
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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Author / Creator:Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah ; Bowdin, Sarah ; Monfared, Nasim ; Thiruvahindrapuram, Bhooma ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Yuen, Ryan K C ; Szego, Michael J ; Hayeems, Robin Z ; Shaul, Randi Zlotnik ; Brudno, Michael ; Girdea, Marta ; Frey, Brendan ; Alipanahi, Babak ; Ahmed, Sohnee ; Babul-Hirji, Riyana ; Porras, Ramses Badilla ; Carter, Melissa T ; Chad, Lauren ; Chaudhry, Ayeshah ; Chitayat, David ; Doust, Soghra Jougheh ; Cytrynbaum, Cheryl ; Dupuis, Lucie ; Ejaz, Resham ; Fishman, Leona ; Guerin, Andrea ; Hashemi, Bita ; Helal, Mayada ; Hewson, Stacy ; Inbar-Feigenberg, Michal ; Kannu, Peter ; Karp, Natalya ; Kim, Raymond H ; Kronick, Jonathan ; Liston, Eriskay ; MacDonald, Heather ; Mercimek-Mahmutoglu, Saadet ; Mendoza-Londono, Roberto ; Nasr, Enas ; Nimmo, Graeme ; Parkinson, Nicole ; Quercia, Nada ; Raiman, Julian ; Roifman, Maian ; Schulze, Andreas ; Shugar, Andrea ; Shuman, Cheryl ; Sinajon, Pierre ; Siriwardena, Komudi ; Weksberg, Rosanna ; Yoon, Grace ; Carew, Chris ; Erickson, Raith ; Leach, Richard A ; Klein, Robert ; Ray, Peter N ; Meyn, M Stephen ; Scherer, Stephen W ; Cohn, Ronald D ; Marshall, Christian R
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2016-01, Vol.1 (1), p.15012-15012, Article 15012
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Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis
Author / Creator:Wengryn, Parker ; Silveira, Karina da Costa ; Oborn, Connor ; Soltys, Carrie-Lynn ; Beke, Alexander ; Chacon-Fonseca, Inara ; Damseh, Nadirah ; Rodriguez, Marco Quesada ; Badilla-Porras, Ramses ; Kannu, Peter
Publisher:United States: Hindawi
Journal title:Human mutation, 2023, Vol.2023, p.1-12
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Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
Author / Creator:Reis, Linda M. ; Atilla, Huban ; Kannu, Peter ; Schneider, Adele ; Thompson, Samuel ; Bardakjian, Tanya ; Semina, Elena V.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (1), p.216
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UNRAVELING INCONTINENTIA PIGMENTI: A COMPARISON OF PHENOTYPE AND GENOTYPE VARIANTS
Author / Creator:Wang, Rebecca ; Lara-Corrales, Irene ; Kannu, Peter ; Pope, Elena
Publisher:Oakville: Oxford University Press
Journal title:Paediatrics & child health, 2018-05, Vol.23 (suppl_1), p.e32-e32
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Parents’ Understanding of Genetics and Heritability
Author / Creator:Harding, Brittany ; Egan, Rylan ; Kannu, Peter ; MacKenzie, Jennifer J.
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2017-06, Vol.26 (3), p.541-547
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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Author / Creator:Ghali, Neeti ; Baker, Duncan ; Brady, Angela F. ; Burrows, Nigel ; Cervi, Elena ; Cilliers, Deirdre ; Frank, Michael ; Germain, Dominique P. ; Hulmes, David J.S. ; Jacquemont, Marie-line ; Kannu, Peter ; Lefroy, Henrietta ; Legrand, Anne ; Pope, F. Michael ; Robertson, Lisa ; Vandersteen, Anthony ; von Klemperer, Kate ; Warburton, Renarta ; Whiteford, Margo ; van Dijk, Fleur S.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2081-2091
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MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria
Author / Creator:Mendoza, Roberto ; Dupuis, Lucie ; Kannu, Peter ; Hartley, Taila ; Bareke, Eric ; Boycott, Kym
Journal title:Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A4-A4
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Showing 1 to 20 of 41 results

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

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

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

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

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

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Perthes’ disease

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MG-101 Mutations preventing regulated exon skipping of a receptor tyrosine kinase cause a developmental disorder of osteogenesis

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Oral Infigratinib Therapy in Children with Achondroplasia

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Direct Reprogramming of Fibroblasts to Osteoblasts: Techniques and Methodologies

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Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

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

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

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Unique retinal signaling defect in GNB5-related disease

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

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Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis

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

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UNRAVELING INCONTINENTIA PIGMENTI: A COMPARISON OF PHENOTYPE AND GENOTYPE VARIANTS

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Parents’ Understanding of Genetics and Heritability

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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

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MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria

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