Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Stephanie Oates"'
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Akademický článek
Incorporating epilepsy genetics into clinical practice: a 360°evaluation
Autor: Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal
Publikováno v: npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s C
Externí odkaz: https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b
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2
Intolerance to quinidine in a n-of-1 trial for KCNT1 associated epilepsy of infancy with migrating focal seizures
Autor: Elaine, Hughes, Stephanie, Oates, Deb K, Pal
Publikováno v: Seizure. 103:46-50
Quinidine has been proposed as a repurposed licensed drug for the treatment of seizures in KCNT1 gain-of-function associated Epilepsy of Infancy with Migrating Focal Seizures (EIMFS). Sparse evidence from case reports suggests limited effectiveness a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83b0f1cc41cccd40f4c44bd22f5c777
https://doi.org/10.1016/j.seizure.2022.10.017
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3
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
Autor: Sophie Bayley, Diana Le Duc, Richard Rosch, Matthew R.G. Taylor, Jens Erik Klint Nielsen, Joanna Kennedy, Stephanie Oates, Charlotte Brasch-Andersen, Lina Quteineh, Katrina M. Allis, Bitten Schönewolf-Greulich, Deb K. Pal, Jennifer Baulcomb, Karen Low, Michael Absoud, Georgia Vasileiou, Christian Korff, T. Michael Yates, M. Albert Basson, Rikke S. Møller, Pernille Mathiesen Tørring, Christiane Zweier, Meena Balasubramanian, Sushma Goyal, Maximilian Radtke, Bernt Popp, Amy Riddett, Gitte Rønde, Bert Callewaert, Zeynep Tümer, Emily Todd, Ulrike Hüffmeier, Amelle Shillington, Renkui Bai, Annemarie Sims
Publikováno v: Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, R S, Nielsen, J E K, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, M R G, Todd, E, Torring, P M, DMSc, Z T M D P D, Vasileiou, G, Yates, T M, Zweier, C, Rosch, R, Basson, M A & Pal, D K 2021, ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ', Clinical Genetics, vol. 100, no. 4, pp. 412-429 . https://doi.org/10.1111/cge.14023
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea9786c47332104f66af81161a75d69
https://pubmed.ncbi.nlm.nih.gov/34216016
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5
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
Autor: Steffen Syrbe, Michael Parker, Georg F. Hoffmann, Julian Schröter, Emilia K. Bijlsma, Deb K. Pal, Bernt Popp, Dagmar Huhle, L. Jestaedt, Stefan Kölker, A. van Haeringen, Heiko Brennenstuhl, Sonja Neuser, Johannes R. Lemke, S. H. Donze, Andreas Merkenschlager, Jan Henje Döring, D. Gräfe, Inga Harting, Stephanie Oates, Maria Arelin
Publikováno v: European Journal of Human Genetics, 30(3), 298-306. SPRINGERNATURE
TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b243d139198b07cdf975bdb43e5fdad4
https://pubmed.ncbi.nlm.nih.gov/35017693
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6
Incorporating epilepsy genetics into clinical practice: a 360°evaluation
Autor: Ruth Williams, Rikke S. Møller, Hans Atli Dahl, Elaine Hughes, Rosalie Lear, Shan Tang, Qin Hao, Line H.G. Larsen, Stephanie Oates, Richard E. Rosch, Deb K. Pal
Publikováno v: NPJ Genomic Medicine
Oates, S, Tang, S, Rosch, R, Lear, R, Hughes, E F, Williams, R E, Larsen, L H G, Hao, Q, Dahl, H A, Møller, R S & Pal, D K 2018, ' Incorporating epilepsy genetics into clinical practice : A 360° evaluation ', NPJ Genomic medicine, vol. 3, no. 1 . https://doi.org/10.1038/s41525-018-0052-9, https://doi.org/10.1038/s41525-018-0052-9
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Oates, S, Tang, S, Rosch, R, Lear, R, Hughes, E F, Williams, R E, Larsen, L H G, Hao, Q, Dahl, H A, Møller, R S & Pal, D K 2018, ' Incorporating epilepsy genetics into clinical practice : A 360°evaluation ', npj Genomic Medicine, vol. 3, 13 . https://doi.org/10.1038/s41525-018-0052-9
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cb13e205ff414012972738364a65a4
https://doi.org/10.1038/s41525-018-0052-9
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7
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f77c6e102bd23c0c21993def3378be
https://pubmed.ncbi.nlm.nih.gov/28457718
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8
An overview of intra-articular therapy for mucopolysaccharidosis VI
Autor: David Ketteridge, Stephanie Oates, John J. Hopwood, Sharon Byers, Dyane Auclair
Publikováno v: Journal of Pediatric Rehabilitation Medicine. 3:3-6
Dyane Auclaira,∗, David Ketteridgeb, Stephanie Oatesb, John J. Hopwooda and Sharon Byersc Lysosomal Diseases Research Unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia Metabolic unit, SA Pathology (at Women
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e34172ec4612f9d4b54e9bcfb1877a
https://doi.org/10.3233/prm-2010-0101
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9
Inpatient detection of cardiac-inherited disease: the impact of improving family history taking
Autor: Andrew Aitken, Kathryn E Waddell-Smith, Martin K. Stiles, Amanda Graham, Tom Donoghue, Jackie Crawford, Jonathan R. Skinner, Stephanie Oates
Publikováno v: Open Heart
Objectives ‘Idiopathic’ cardiac conditions such as dilated cardiomyopathy (DCM) and resuscitated sudden cardiac death (RSCD) may be familial. We suspected that inpatient cardiology services fail to recognise this. Our objective was to compare dia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8b4c5b0e303347753ef9f0444069bf
https://pubmed.ncbi.nlm.nih.gov/26925241
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