التفاصيل البيبلوغرافية
العنوان:
Discrepancies in reporting the CAG repeat lengths for Huntington's disease
المؤلفون:
Quarrell, Ow , Handley, O , O'Donovan, K , Dumoulin, C , Ramos Arroyo, M , Biunno, I , Bauer, P , Kline, M , Landwehrmeyer, Gb , Barth, K , Correia Guedes, L , Maria Finisterra, A , Bascuñana Garde, M , Bos, R , Ecker, D , Held, C , Koppers, K , Laurà, M , Martínez Descals, A , Mclean, T , Mestre, T , Minster, S , Monza, D , Townhill, J , Orth, M , Padieu, H , Paterski, L , Peppa, N , Koivisto, Sp , Rialland, A , Røren, N , Šašinková, P , Cubillo, Pt , van Walsem MR , Witjes Ané MN , Yudina, E , Zielonka, D , Zielonka, E , Zinzi, P , Bachoud Lévi AC , Bentivoglio, Ar , Bonelli, R , Burgunder, Jm , Dunnett, Sb , Ferreira, Jj , Handley, Oj , Heiberg, A , Illmann, T , Levey, J , Nielsen, Je , Päivärinta, M , Roos, Ra , Rojo Sebastián, A , Tabrizi, Sj , Vandenberghe, W , Verellen Dumoulin, C , Zaremba, J , Uhrova, T , Wahlström, J , Bonelli, Rm , Herranhof, B , Holl, A , Kapfhammer, Hp , Koppitz, M , Magnet, M , Otti, D , Painold, A , Reisinger, K , Scheibl, M , Hecht, K , Lilek, S , Müller, N , Schöggl, H , Ullah, J , Brugger, F , Hepperger, C , Hotter, A , Mahlknecht, P , Nocker, M , Seppi, K , Wenning, G , Buratti, L , Hametner, Em , Holas, C , Hussl, A , Mair, K , Poewe, W , Wolf, E , Zangerl, A , Braunwarth, Em , Ribaï, P , Flamez, A , Morez, V , de Raedt, S , Boogaerts, A , van Reijen, D , Klempíř, J , Kucharík, M , Roth, J , Hjermind, Le , Jakobsen, O , Stokholm, J , Hasholt, L , Nørremølle, A , Sørensen, Sa , Hiivola, H , Martikainen, K , Tuuha, K , Peippo, M , Sipponen, M , Kosinski, Cm , Milkereit, E , Probst, D , Sass, C , Schiefer, J , Schlangen, C , Werner, Cj , Gelderblom, H , Priller, J , Prüss, H , Spruth, Ej , Andrich, J , Hoffmann, R , Kraus, Ph , Muth, S , Prehn, C , Saft, C , Salmen, S , Stamm, C , Steiner, T , Strassburger, K , Lange, H , Friedrich, A , Hunger, U , Löhle, M , Schmidt, S , Storch, A , Wolz, A , Wolz, M , Lambeck, J , Zucker, B , Boelmans, K , Ganos, C , Hidding, U , Lewerenz, J , Münchau, A , Schmalfeld, J , Stubbe, L , Zittel, S , Heinicke, W , Longinus, B , Uni, M , Bürk, K , Möller, Jc , Rissling, I , Peinemann, A , Städtler, M , Weindl, A , Bechtel, N , Beckmann, H , Bohlen, S , Hölzner, E , Reilmann, R , Rohm, S , Rumpf, S , Schepers, S , Beister, A , Dose, M , Hammer, K , Kieni, J , Leythaeuser, G , Marquard, R , Raab, T , Richter, S , Selimbegovic Turkovic, A , Schrenk, C , Schuierer, M , Wiedemann, A , Buck, A , Connemann, J , Eschenbach, C , Landwehrmeyer, B , Lezius, F , Nepper, S , Niess, A , Süssmuth, S , Trautmann, S , Weydt, P , Cormio, C , Difruscolo, O , Sciruicchio, V , Serpino, C , de Tommaso, M , Capellari, S , Cortelli, P , Gallassi, R , Poda, R , Rizzo, G , Scaglione, C , Bertini, E , Ghelli, E , Ginestroni, A , Massaro, F , Mechi, C , Paganini, M , Piacentini, S , Pradella, S , Romoli, Am , Sorbi, S , Abbruzzese, G , Bandettini di Poggio, M , Di Maria, E , Ferrandes, G , Mandich, P , Marchese, R , Albanese, A , Di Bella, D , Di Donato, S , Gellera, C , Genitrini, S , Mariotti, C , Nanetti, L , Paridi, D , Soliveri, P , Tomasello, C , De Michele, G , Di Maio, L , Rinaldi, C , Valeria Russo, C , Salvatore, E , Tucci, T , Cannella, M , Codella, V , De Gregorio, F , De Nicola, N , Martino, T , Simonelli, M , Squitieri, F , Catalli, C , Di Giacopo, R , Fasano, A , Frontali, M , Guidubaldi, A , Ialongo, T , Jacopini, G , Loria, G , Modoni, A , Piano, C , Piccininni, C , Quaranta, D , Romano, Silvia , Soleti, F , Spadaro, M , van Hout MS , van Vugt JP , Marit de Weert, A , Bolwijn, Jj , Dekker, M , Leenders, Kl , van Oostrom JC , Dumas, Em , Jurgens, Ck , van den Bogaard SJ , 't Hart EP , Kremer, B , Verstappen, Cc , Aaserud, O , Wehus, R , Bjørgo, K , Fannemel, M , Gørvell, P , Retterstøl, L , Overland, T , Stokke, B , Bjørnevoll, I , Sando, Sb , Sitek, E , Slawek, J , Soltan, W , Boczarska Jedynak, M , Jasinska Myga, B , Opala, G , Kodowska Duda, G , Banaszkiewicz, K , Szczudlik, A , Rudziñska, M , Wójcik, M , Dec, M , Krawczyk, M , Bryl, A , Ciesielska, A , Klimberg, A , Marcinkowski, J , Sempoowicz, J , Samara, H , Janik, P , Kalbarczyk, A , Kwiecinski, H , Jamrozik, Z , Antczak, J , Jachinska, K , Rakowicz, M , Richter, P , Ryglewicz, D , Witkowski, G , Zdzienicka, E , Suek, A , Krysa, W , Guedes, L , Coelho, M , Mendes, T , Valadas, A , Cavaco, S , Damásio, J , Magalhães, M , Gago, M , Garrett, C , Guerra, Mr , Barrero, F , Morales, B , Cubo, E , Mariscal, N , Sánchez, J , Alonso Frech, F , Rabasa Perez, M , Fenollar, M , García, R , Quiroga, Pp , Vázquez Rivera, S , Villanueva, C , Bascuñana, M , Fatás Ventura, M , García Ribas, G , García de Yébenes, J , López Sendón Moreno JL , García Ruíz PJ , José Saiz Artiga, M , Sánchez, V , Noguera Perea, F , Lorenza, F , Torres, Mm , Reinante, G , Vivancos Moreau, L , Barbera, Ma , Badenes Guia, D , Hernanz, Lc , Catena, Jl , Ferrer, Pq , Tome Carruesco, G , Bas, J , Busquets, N , Calopa, M , Dalmau Elorza, M , Díez, C , López, A , Durán, S , Terol, S , Floriach Robert, M , Garzón Ruíz, B , González Casado, A , Haro Martínez, I , Viladrich, Cm , Càrdenas R, Pons i. , Roca, E , Llesoy, Jr , Ruiz Idiago JM , Ruíz Vergara, M , Soriano García, S , Villa Riballo, A , Gorospe, A , Legarda, I , Arques, Pn , Torres Rodríguez MJ , Vives, B , Gaston, I , Bosca, M , Burguera, Ja , Garcia, Ac , Pålhagen, Se , Paucar, M , Svenningsson, P , Walldén Reza Soltani, T , Höglund, A , Sandström, B , Høsterey Ugander, U , Fredlund, G , Constantinescu, R , Neleborn Lingefjärd, L , Tedroff, J , Esmaeilzadeh, M , Winnberg, E , Burgunder, Y , Stebler, Y , Kaelin, A , Romero, I , Schüpbach, M , Zaugg, Sw , Jack, R , Matheson, K , Miedzybrodzka, Z , Rae, D , Simpson, S , Summers, F , Ure, A , Crooks, J , Curtis, A , de Souza, J , Rickards, H , Wright, J , Barker, Ra , Di Pietro, A , Fisher, K , Goodman, A , Hill, S , Kershaw, A , Mason, S , Paterson, N , Raymond, L , Bisson, J , Busse, M , Clenaghan, C , Ellison Rose, L , Hunt, S , Price, K , Rosser, A , Edwards, M , Hughes, T , Mcgill, M , Pearson, P , Porteous, M , Smith, P , Zeman, A , Causley, A , Harrower, T , Howcroft, D , Lambord, N , Rankin, J , Brockie, P , Foster, J , Johns, N , Mckenzie, S , Rothery, J , Thomas, G , Yates, S , Miller, J , Ritchie, S , Burrows, L , Fletcher, A , Harding, A , Laver, F , Silva, M , Thomson, A , Barnes, K , Chu, C , Hobson, E , Jamieson, S , Markova, I , Thomson, J , Toscano, J , Wild, S , Yardumian, P , Bourne, C , Clayton, C , Dipple, H , Clapton, J , Grant, J , Gross, D , Hallam, C , Middleton, J , Murch, A , Patino, D , Andrews, T , Dougherty, A , Kavalier, F , Golding, C , Lashwood, A , Robertson, D , Ruddy, D , Whaite, A , Patton, M , Peterson, M , Rose, S , Bruno, S , Chu, E , Doherty, K , Henley, S , Lahiri, N , Novak, M , Patel, A , Read, J , Rosser, E , Say, M , Tabrizi, S , Taylor, R , Warner, T , Wild, E , Arran, N , Callaghan, J , Craufurd, D , Fullam, R , Howard, L , Huson, S , Oughton, E , Partington Jones, L , Snowden, J , Sollom, A , Stopford, C , Thompson, J , Trender Gerhad, I , Verstraelen, N , Westmoreland, L , Nemeth, Ah , Suida, G , Harrison, D , Hughes, M , Parkinson, A , Soltysiak, B , Bandmann, O , Bradbury, A , Gill, P , Fairtlough, H , Fillingham, K , Foustanos, I , Tidswell, K.
المساهمون:
Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, DE MICHELE, Giuseppe
المصدر:
European Journal of Human Genetics, Vol. 20, No 1 (2012) pp. 20-6
سنة النشر:
2012
مصطلحات موضوعية:
medicine.medical_specialty , Concordance , International Cooperation , Diagnostic Errors/statistics & numerical data , Nerve Tissue Proteins , Guidelines as Topic , Bioinformatics , Sensitivity and Specificity , Article , Huntingtin Gene , Huntington's disease , Trinucleotide Repeats , Internal medicine , External quality assessment , Genetics , medicine , Humans , Nerve Tissue Proteins/genetics , Diagnostic laboratory , Genetic Testing , Genetic Testing/methods/standards , Allele , Diagnostic Errors , standard reference material , Genetics (clinical) , Alleles , Huntingtin Protein , ddc:618 , business.industry , international cooperation , Nuclear Proteins , Reproducibility of Results , Reference Standards , medicine.disease , CAG repeat length , Nuclear Proteins/genetics , Huntington Disease , Huntington Disease/diagnosis , Mutation , Medical genetics , reproducibility of results , mutation , business , Trinucleotide repeat expansion , Huntington Disease/diagnosis/genetics , Genetic Testing/methods
الوصف:
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
وصف الملف:
ELETTRONICO
اللغة:
English
تدمد:
1018-4813
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889bb5ecc56cde789666947b81c117e5Test https://archive-ouverte.unige.ch/unige:30601Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....889bb5ecc56cde789666947b81c117e5
قاعدة البيانات:
OpenAIRE
