Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Anne O'Meara"'
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Autor:
Mieke Aldenhoven, Brigitte T.A. van den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. van Hasselt, Marleen Renard, Victoria Bordon, Tom J. de Koning, Jaap Jan Boelens
Publikováno v:
Blood Advances, Vol 1, Iss 24, Pp 2236-2242 (2017)
Abstract: Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual diseas
Externí odkaz:
https://doaj.org/article/816b9f5cde4c46069c9a97066048c833
Autor:
Isabella Bray, Kenneth Bryan, Suzanne Prenter, Patrick G Buckley, Niamh H Foley, Derek M Murphy, Leah Alcock, Pieter Mestdagh, Jo Vandesompele, Frank Speleman, Wendy B London, Patrick W McGrady, Desmond G Higgins, Anne O'Meara, Maureen O'Sullivan, Raymond L Stallings
Publikováno v:
PLoS ONE, Vol 4, Iss 11, p e7850 (2009)
MiRNAs regulate gene expression at a post-transcriptional level and their dysregulation can play major roles in the pathogenesis of many different forms of cancer, including neuroblastoma, an often fatal paediatric cancer originating from precursor c
Externí odkaz:
https://doaj.org/article/2265127f0ecd456b916a7b1d47ae81c8
Autor:
Fin Breatnach, Anne O'Meara, Michael McDermott, Daniel Catchpoole, John M. Maris, Prakash Nair, Raymond L. Stallings
Supplementary Table 2 from High-Resolution Analysis of Chromosomal Breakpoints and Genomic Instability Identifies PTPRD as a Candidate Tumor Suppressor Gene in Neuroblastoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d826a65f8d6545d193b56a4eb1e91d6d
https://doi.org/10.1158/0008-5472.22365948
https://doi.org/10.1158/0008-5472.22365948
Autor:
Fin Breatnach, Anne O'Meara, Michael McDermott, Daniel Catchpoole, John M. Maris, Prakash Nair, Raymond L. Stallings
Although neuroblastoma is characterized by numerous recurrent, large-scale chromosomal imbalances, the genes targeted by such imbalances have remained elusive. We have applied whole-genome oligonucleotide array comparative genomic hybridization (medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f31cf00d8ac41b9ac7100cbf6ebb13e
https://doi.org/10.1158/0008-5472.c.6494922
https://doi.org/10.1158/0008-5472.c.6494922
Autor:
Fin Breatnach, Anne O'Meara, Michael McDermott, Daniel Catchpoole, John M. Maris, Prakash Nair, Raymond L. Stallings
Supplementary Table 1 from High-Resolution Analysis of Chromosomal Breakpoints and Genomic Instability Identifies PTPRD as a Candidate Tumor Suppressor Gene in Neuroblastoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303c23dc097da7975889a7913d5a0d58
https://doi.org/10.1158/0008-5472.22365951.v1
https://doi.org/10.1158/0008-5472.22365951.v1
Autor:
Kevin J. Mulhall, E E Fogarty, Jacques Noel, Ellen Crushell, Anne O'Meara, Paula M. Kelly, Jim Kennedy
Publikováno v:
Journal of Pediatric Orthopaedics. 36:25-28
BACKGROUND After successful hematopoietic stem cell transplantation, maintaining function and mobility have become key goals in the management of patients with Hurler syndrome, (mucopolysaccharoidosis type 1H). The aim of this study was to establish
Autor:
Paula M. Kelly, Paul J. Orchard, Catherine Breen, Tyler G. Ketterl, Klane K. White, Weston P. Miller, Jim Kennedy, Ralph J. B. Sakkers, Troy C. Lund, Anne O'Meara, Olga C. Knaven, Simon Jones, Jean Mercer, Rick R. van Rijn, Matthijs M. den Os, Eveline J. Langereis, Frits A. Wijburg
Publikováno v:
Journal of bone and joint surgery. American volume, 98A(5), 386-395. Journal of Bone and Joint Surgery Inc.
Background: Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallm
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Autor:
Anne O'Meara, Peter M. van Hasselt, Robert Wynn, Marleen Renard, Attilio Rovelli, Simon Jones, Jaap Jan Boelens, Tom J. de Koning, Victoria Bordon, Paul Veys, Mieke Aldenhoven, Rossella Parini, Brigitte T.A. van den Broek
Publikováno v:
Blood Advances, 1(24), 2236. The American Society of Hematology
Blood, 1(24), 2236-2242. AMER SOC HEMATOLOGY
BLOOD ADVANCES
Blood, 1(24), 2236-2242. AMER SOC HEMATOLOGY
BLOOD ADVANCES
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc0feb6dde159c56f0dc0459beb22db
https://dspace.library.uu.nl/handle/1874/359275
https://dspace.library.uu.nl/handle/1874/359275
Autor:
Harmatz P1, Hendriksz CJ2, Lampe C3, McGill JJ4, Parini R5, Leão Teles E6, Valayannopoulos V7, Cole TJ8, Matousek R9, Graham S9, Guffon N10, Quartel A9, he MPS VI Study Group co investigators were Yasmina Amraoui, Children's Hospital, Md, University of Mainz, Germany, Laila, Arash, Children's Hospital, University of Mainz, Germany, Javier Arroyo, Md, Hospital San Pedro de Alcantara, Hospital de día de Pediatría, Caceres, Spain, Ana, Cecliaíazevedo, Serviço de Genética Médica/HCPA, Md, Department of Genetics/UFRGS, Porto Alegre, Brazil, Barone, RITA MARIA ELISA, Department of Pediatrics, Md, University of Catania, Catania, Italy, Michael Beck, Md, D. N. Bennett Jones, Md, Consultant General Renal Physician, Whitehaven, Philippe Bernard, Md, Centre Hospitalier d'Arras, Arras, France, Thierry Billette de Villemeur, Hôpital Trousseau, Paris, France, Raquel, Boy, Hospital Universitário Pedro Ernesto, Md, Rio de Janeiro, Brazil, Susan, Conrad, Research Center Oakland, Oakland, Ca, Usa, Eduardo Coopman, Md, Hospital del Cobre D. e. Salvador, Calama, Chile, Agata Fiumara, Md, Department of Pediatrics, University of Catania, Catania, Italy, William, Frischman, The Townsville Hospital, Md, Townsville, Australia, Roberto, Giugliani, Phd, Md, Serviço de Genética Médica/HCPA, Department of Genetics/UFRGS, Porto Alegre, Brazil, Elio Gizzi, Md, Children's Hospital Research Center Oakland, Oakland, Usa, Ca, Paul, Harmatz, John J. Hopwood, Department of Genetic Medicine, Women'S, Children's Hospital Adelaide, North Adelaide, Australia, Simon Jones, Md, Royal Manchester Children's Hospital, Manchester, Paige Kaplan, Children's Hospital of Philadelphia, Philadelphia, Pa, Laura Keppen, Md, Department of Pediatrics, University of South Dakota School of Medicine, Sioux Falls, Sd, David Ketteridge, Department of Genetic Medicine, Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg, Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen, Freiburg, Germany, Michel, Kretz, Hôpital Civil de Colmar, Md, Le Parc Centre de la Mère et de l'Enfant, Colmar, Elisa Leão Teles, Md, Unidade de Doenças Metabólicas, Departamento Pediatria, Hospital de Sao João, Porto, Portugal, Claudia Lee, Mph, Shuan Pei Lin, MacKay Memorial Hospital, Md, Department of Genetics, Taipei, Taiwan, Lionel Lubitz, Md, Royal Children's Hospital, Melbourne, Ana Maria Martins, Md, Unifesp, Instituto de Oncologia Pediátrica, Graacc/unifesp, Departamento de Pediatria, São Paulo, Brazil, Clara Sá Miranda, M., Unidade de Biologia do Lisossoma e. Peroxisoma, Md, Instituto de Biologia Molecular e. Celular, Porto, Stephanie Oates, RN Department of Genetic Medicine, Anne O'Meara, Md, Our Lady's Hospital for Sick Children, Dublin, Ireland, Ans van der Ploeg, Md, Erasmus MC University Medical Center, Rotterdam, The, Netherlands, Isabel Cristina Neves de Souza, Md, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Ray Pais, Md, Pediatric Hematology/Oncology, East Tennessee Children's Hospital, Knoxville, Tn, Gregory Pastores, Md, Phd, NYU Medical Center, Rusk Institute, New York, Usa, Ny, Lorenzo, Pavone, Barbara Plecko, U. n. i. v. Klinik fur Kinder und Jugendheilkunde, Graz, Austria, Silvio, Pozzi, Ospedale Vito Fazzi, Md, UO Pediatria, Lecce, Uwe Preiss, Md, Universitaetsklinik und Poliklinik fuer Kinder, Halle, Emerson Santana Santos, Md, Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria, Maceió, Brazil, Maurizio, Scarpa, Department of Pediatrics, University of Padova, Padova, Italy, Schwartz, Ida Vanessa D., David, Sillence, Westmead, Australia, Luiz Carlos Santana da Silva, Phd, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Brazil, Julie, Simon, Children's Hospital, Rn, Prof Giovanni Sorge, Department of Pediatrics, Robert Steiner, Departments of Pediatrics, Molecular, Medical, Genetics, Oregon Health Science University, Portland, Usa, Or, Valadares, Eugênia R., Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais UFMG, Avenida Professor Alfredo Balena, Belo Horizonte Minas Gerais, Bonito Victor, Md, Lewis Waber, Md, Phd, Pediatric Genetics, Metabolism, University of Texas Southwest Medical Center, Dallas, Usa, Tx, John, Waterson, Whitley, Chester B., University of Minnesota Medical School, Minneapolis, Usa, Mn, Edmond Wraith, J., Royal Manchester Children's Hospital, Md, Manchester, U. k.
Publikováno v:
Molecular genetics and metabolism. 122(1-2)
Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) derm
Autor:
Rossella Parini, Simon Jones, Marleen Renard, Attilio Rovelli, Mieke Aldenhoven, Anne O'Meara, Peter M. van Hasselt, Paul Veys, Victoria Bordon, Jaap-Jan Boelens, Tom J. de Koning, Brigitte T.A. van den Broek, Robert Wynn
Publikováno v:
Biology of Blood and Marrow Transplantation. 24:S29-S30