Discrepancies in reporting the CAG repeat lengths for Huntington’s disease

European Journal of Human Genetics

Volumn 20, Issue 1, 2012, Pages 20-26

  Quarrell, Oliver W ^a   Handley, Olivia ^b,bv   O’Donovan, Kirsty ^a   Dumoulin, Christine ^c   Ramos Arroyo, Maria ^d   Biunno, Ida ^e,i   Bauer, Peter ^f   Kline, Margaret ^g   Landwehrmeyer, G Bernhard ^h,i   Barth, Katrin ^h,i   Correia Guedes, Leonor ⁱ   Finisterra, Ana Maria ⁱ   Garde, Monica Bascunãna ⁱ   Bos, Reineke ^i,ao   Ecker, Daniel ^h,i   Held, Christine ^h,i   Koppers, Kerstin ⁱ   Laurà, Mathilde ⁱ   Descals, Asunción Martínez ⁱ   McLean, Tim ⁱ   Mestre, Tiago ^i,ay   Minster, Sara ⁱ   Monza, Daniela ^i,ai   Townhill, Jenny ^i,bv   Orth, Michael ^h,i,x   Padieu, Helene ⁱ   Paterski, Laurent ⁱ   Peppa, Nadia ^a,i   Koivisto, Susana Pro ⁱ   Rialland, Amandine ⁱ   Røren, Ninni ⁱ   Šašinková, Pavla ⁱ   Trigo Cubillo, Patricia ^i,bf   van Walsem, Marlene R ^i,aq   Witjes Ané, Marie Noëlle ^i,ao   Yudina, Elizaveta ⁱ   Zielonka, Daniel ^i,av   Zielonka, Eugeniusz ⁱ   Zinzi, Paola ^i,al   Bachoud Levi A C ⁱ   Bentivoglio, Anna Rita ^i,al   Bonelli, R ⁱ   Burgunder, Jean Marc ^i,br   Dunnett, S B ⁱ   Ferreira, J J ⁱ   Handley, O J ⁱ   Heiberg, Arvid ^i,aq   Illmann, T ⁱ   Levey, J ⁱ   Nielsen, Jørgen E ^i,p   Paivarinta M ⁱ   Roos, Raymund A C ^i,ao   Rojo Sebastián, Ana ^i,bi   Tabrizi, S J ⁱ   Vandenberghe, Wim ^i,n   Verellen Dumoulin, C ⁱ   Zaremba, Jacek ^i,ax   Uhrova, T ⁱ   Wahlström, Jan ^i,bp   Bonelli, Raphael M ^j   Herranhof, Brigitte ^j   Holl, Anna ^j   Kapfhammer, Hans Peter ^j   Koppitz, Michael ^j   Magnet, Markus ^j   Otti, Daniela ^j   Painold, Annamaria ^j   Reisinger, Karin ^j   Scheibl, Monika ^j   Hecht, Karen ^j   Lilek, Sabine ^j   Müller, Nicole ^j   Schöggl, Helmut ^j   Ullah, Jasmin ^j   Brugger, Florian ^k   Hepperger, Caroline ^k   Hotter, Anna ^k   Mahlknecht, Philipp ^k   Nocker, Michael ^k   Seppi, Klaus ^k   Wenning, Gregor ^k   Buratti, Lisa ^k   Hametner, Eva Maria ^k   Holas, Christiane ^k   Hussl, Anna ^k   Mair, Katharina ^k   Poewe, Werner ^k   Wolf, Elisabeth ^k   Zangerl, Anja ^k   Braunwarth, Eva Maria ^k   Ribaï, Pascale ^l   Flamez, Anja ^m   Morez, V ^m   de Raedt, Sylvie ^m   Boogaerts, Andrea ⁿ   van Reijen, Dimphna ⁿ   Klempíř, Jiř ^o   Kucharík, Martin ^o   Roth, Jan ^o   Hjermind, Lena E ^p   Jakobsen, Oda ^p   Stokholm, Jette ^p   Hasholt, Lis ^p   Nørremølle, Anne ^p   Sørensen, Sven Asger ^p   Hiivola, Heli ^q   Martikainen, Kirsti ^q   Tuuha, Katri ^q   Peippo, Maarit ⁱ   Sipponen, Marjatta ⁱ   Michael Kosinski, Christoph ^r   Milkereit, Eva ^r   Probst, Daniela ^r   Sass, Christian ^r   Schiefer, Johannes ^r   Schlangen, Christiane ^r   Werner, Cornelius J ^r   Gelderblom, Harald ^s   Priller, Josef ^s   Prüβ, Harald ^s   Spruth, Eike Jakob ^s   Andrich, Jürgen ^t   Hoffmann, Rainer ^t   Kraus, Peter H ^t   Muth, Sabine ^t   Prehn, Christian ^t   Saft, Carsten ^t   Salmen, Stephan ^t   Stamm, Christiane ^t   Steiner, Tanja ^t   Straβburger, Katrin ^t   Lange, Herwig ^u,ac   Friedrich, Andrea ^v   Hunger, Ulrike ^v   Löhle, Matthias ^v   Schmidt, Simone ^v   Storch, Alexander ^v   Wolz, Annett ^v   Wolz, Martin ^v   Lambeck, Johann ^w   Zucker, Birgit ^w   Boelmans, Kai ^x   Ganos, Christos ^x   Hidding, Ute ^x   Lewerenz, Jan ^x   Münchau, Alexander ^x   Schmalfeld, Jenny ^x   Stubbe, Lars ^x   Zittel, Simone ^x   Heinicke, Walburgis ^y   Longinus, Bernhard ^z   Bürk, Kathrin ^aa   Carsten Möller, Jens ^aa   Rissling, Ida ^aa   Peinemann, Alexander ^ab   Städtler, Michael ^ab   Weindl, Adolf ^ab   Bechtel, Natalie ^ac   Beckmann, Heike ^ac   Bohlen, Stefan ^ac   Hölzner, Eva ^ac   Reilmann, Ralf ^ac   Rohm, Stefanie ^ac   Rumpf, Silke ^ac   Schepers, Sigrun ^ac   Beister, Antonie ^ad   Dose, Matthias ^ad   Hammer, Kathrin ^ad   Kieni, Janina ^ad   Leythaeuser, Gabriele ^ad   Marquard, Ralf ^ad   Raab, Tina ^ad   Richter, Sven ^ad   Selimbegovic Turkovic, Amina ^ad   Schrenk, Caroline ^ad   Schuierer, Michele ^ad   Wiedemann, Alexandra ^ad   Buck, Andrea ^h   Connemann, Julia ^h   Eschenbach, Carolin ^h   Lezius, Franziska ^h   Nepper, Solveig ^h   Niess, Anke ^h   Süβmuth, Sigurd ^h   Trautmann, Sonja ^h   Weydt, Patrick ^h   Cormio, Claudia ^ae   Difruscolo, Olimpia ^ae   Sciruicchio, Vittorio ^ae   Serpino, Claudia ^ae   de Tommaso, Marina ^ae   Capellari, Sabrina ^af   Cortelli, Pietro ^af   Gallassi, Roberto ^af   Poda, Roberto ^af   Rizzo, Giovanni ^af   Scaglione, Cesa ^af   Bertini, Elisabetta ^ag   Ghelli, Elena ^ag   Ginestroni, Andrea ^ag   Massaro, Francesca ^ag   Mechi, Claudia ^ag   Paganini, Marco ^ag   Piacentini, Silvia ^ag   Pradella, Silvia ^ag   Romoli, Anna Maria ^ag   Sorbi, Sandro ^ag   Abbruzzese, Giovanni ^ah   Bandettini di Poggio, Monica ^ah   Di Maria, Emilio ^ah   Ferrandes, Giovanna ^ah   Mandich, Paola ^ah   Marchese, Roberta ^ah   Albanese, Alberto ^ai   Di Bella, Daniela ^ai   Di Donato, Stefano ^ai   Gellera, Cinzia ^ai   Genitrini, Silvia ^ai   Mariotti, Caterina ^ai   Nanetti, Lorenzo ^ai   Paridi, Dominga ^ai   Soliveri, Paola ^ai   Tomasello, Chiara ^ai   De Michele, Giuseppe ^aj   Di Maio, Luigi ^aj   Rinaldi, Carlo ^aj   Russo, Cinzia Valeria ^aj   Salvatore, Elena ^aj   Tucci, Tecla ^aj   Cannella, Milena ^ak   Codella, Valentina ^ak   De Gregorio, Francesca ^ak   De Nicola, Nunzia ^ak   Martino, Tiziana ^ak   Simonelli, Maria ^ak   Squitieri, Ferdinando ^ak   Catalli, Claudio ^al   Di Giacopo, Raffaella ^al   Fasano, Alfonso ^al   Frontali, Marina ^al   Guidubaldi, Arianna ^al   Ialongo, Tamara ^al   Jacopini, Gioia ^al   Loria, Giovanna ^al   Modoni, Anna ^al   Piano, Carla ^al   Chiara, Piccininni ^al   Quaranta, Davide ^al   Romano, Silvia ^al   Soleti, Francesco ^al   Spadaro, Maria ^al   van Hout, Monique S E ^am   van Vugt, Jeroen P P ^am   de Weert, A Marit ^am   Bolwijn, J J W ^an   Dekker, M ^an   Leenders, K L ^an   van Oostrom, J C H ^an   Dumas, Eve M ^ao   Jurgens, Caroline K ^ao   van den Bogaard, Simon J A ^ao   't Hart, Ellen P ^ao   Kremer, Berry ^ap   Verstappen, C C P ^ap   Aaserud, Olaf ^aq   Wehus, Raghild ^aq   Bjørgo, Kathrine ⁱ   Fannemel, Madelein ⁱ   Gørvell, Per ⁱ   Pro Koivisto, Susana ⁱ   Retterstøl, Lars ⁱ   Overland, Torborg ⁱ   Stokke, Bodil ⁱ   Bjørnevoll, Inga ^ar   Botne Sando, Sigrid ^ar   Sitek, Emilia ^as   Slawek, Jaroslaw ^as   Soltan, Witold ^as   Boczarska Jedynak, Magdalena ^at   Jasinska Myga, Barbara ^at   Opala, Gregorz ^at   Duda, Gabriela Kłodowska ^at   Banaszkiewicz, Krzysztof ^au   Szczudlik, Andrzej ^au   Rudziñska, Monika ^au   Wójcik, Magdalena ^au   Dec, Małgorzata ^au   Krawczyk, Malgorzata ^au   Bryl, Anna ^av   Ciesielska, Anna ^av   Klimberg, Aneta ^av   Marcinkowski, Jerzy ^av   Sempołowicz, Justyna ^av   Samara, Husam ^av   Janik, Piotr ^aw   Kalbarczyk, Anna ^aw   Kwiecinski, Hubert ^aw   Jamrozik, Zygmunt ^aw   Antczak, Jakub ^ax   Jachinska, Katarzyna ^ax   Rakowicz, Maria ^ax   Richter, Przemyslaw ^ax   Ryglewicz, Danuta ^ax   Witkowski, Grzegorz ^ax   Zdzienicka, Elzbieta ^ax   Sułek, Anna ^ax   Krysa, Wioletta ^ax   Guedes, Leonor ^ay   Coelho, Miguel ^ay   Mendes, Tiago ^ay   Valadas, Anabela ^ay   J Ferreira, Joaquim ^ay   Cavaco, Sara ^az   Damásio, Joana ^az   Magalhaes, Marina ^az   Gago, Miguel ^ba   Garrett, Carolina ^ba   Rosália Guerra, Maria ^ba   Barrero, Francisco ^bb   Morales, Blas ^bb   Cubo, Esther ^bc   Mariscal, Natividad ^bc   Sánchez, Jesús ^bc   Alonso Frech, Fernando ^bd   Rabasa Perez, Maria ^bd   Fenollar, María ^be   García, Rocío García Ramos ^be   Pin Quiroga, Purificacion ^be   Vázquez Rivera, Susana ^be   Villanueva, Clara ^be   Bascuñana, Mónica ^bf   Fatás Ventura, Marta ^bf   García Ribas, Guillermo ^bf   García de Yébenes, Justo ^bf   Sendón Moreno, José Luis López ^bf   García Ruíz, Pedro J ^bg   Martínez Descals, Asunción ^bg   Saiz Artiga, María José ^bg   Sánchez, Vicenta ^bg   Noguera Perea, María Fuensanta ^bh   Lorenza, Fortuna ^bh   Antequera Torres, María Martirio ^bh   Reinante, Gema ^bh   Vivancos Moreau, Laura ^bh   Badenes Guia, Dolors ^bi   Casas Hernanz, Laura ^bi   López Catena, Judit ^bi   Quiléz Ferrer, Pilar ^bi   Tome Carruesco, Gemma ^bi   Bas, Jordi ^bj   Matilde Calopa, Núria Busquets ^bj   Dalmau Elorza, Marina ^bk   López, Cristóbal Díez Aja ^bk   Durán Sindreu Terol, Santiago ^bk   Floriach Robert, Misericordia ^bk   Ruíz, Belén Garzón ^bk   González Casado, Ana ^bk   Haro Martínez, Isabel ^bk   Mareca Viladrich, Celia ^bk   Pons i Càrdenas, Regina ^bk   Roca, Elvira ^bk   Roig Llesoy, Joan ^bk   Idiago, Jesús Miguel Ruiz ^bk   Ruíz Vergara, Mar ^bk   Soriano García, Socorro ^bk   Villa Riballo, Antonio ^bk   Gorospe, Aranzazú ^bl   Legarda, Inés ^bl   Navas Arques, Penelope ^bl   José Torres Rodríguez, María ^bl   Vives, Barbara ^bl   Gaston, Itziar ^bm   Bosca, Maria ^bn   Andres Burguera, Juan ^bn   Campos Garcia, Anabel ^bn   E Pålhagen, Sven ^bo   Paucar, Martin ^bo   Svenningsson, Per ^bo   Walldén Reza Soltani, Tina ^bo   Höglund, Arja ^bo   Sandström, Britta ^bo   Høsterey Ugander, Ulrika ^bp   Fredlund, Gunnel ^bp   Constantinescu, Radu ^bp   Neleborn Lingefjärd, Liselotte ^bp   Tedroff, Joakim ^bq   Esmaeilzadeh, Mona ^bq   Winnberg, Elisabeth ^bq   Burgunder, Yvonne ^br   Stebler, Yanik ^br   Kaelin, Alain ^br   Romero, Irene ^br   Schüpbach, Michael ^br   Weber Zaugg, Sabine ^br   Jack, Roisin ^bs   Matheson, Kirsty ^bs   Miedzybrodzka, Zosia ^bs   Rae, Daniela ^bs   Simpson, Sheila ^bs   Summers, Fiona ^bs   Ure, Alexandra ^bs   Crooks, Jenny ^bt   Curtis, Adrienne ^bt   de Souza, Jenny ^bt   Rickards, Hugh ^bt   Wright, Jan ^bt   Barker, Roger A ^bu   Di Pietro, Anna ^bu   Fisher, Kate ^bu   Goodman, Anna ^bu   Hill, Susan ^bu   Kershaw, Ann ^bu   Mason, Sarah ^bu   Paterson, Nicole ^bu   Raymond, Lucy ^bu   Bisson, Jonathan ^bv   Busse, Monica ^bv   Clenaghan, Catherine ^bv   Ellison Rose, Lynda ^bv   Hunt, Sarah ^bv   Price, Kathleen ^bv   Rosser, Anne ^bv   Edwards, Maureen ^bw   Hughes, Teresa ^bw   McGill, Marie ^bw   Pearson, Pauline ^bw   Porteous, Mary ^bw   Smith, Paul ^bw   Zeman, Adam ^bw   Causley, Aaron ^bx   Harrower, Timothy ^bx   Howcroft, Debbie ^bx   Lambord, Nicol ^bx   Rankin, Julia ^bx   Brockie, Peter ^by   Foster, Jillian ^by   Johns, Nicola ^by   McKenzie, Sue ^by   Rothery, Jean ^by   Thomas, Gareth ^by   Yates, Shona ^by   Miller, Joanne ^bz   Ritchie, Stuart ^bz   Burrows, Liz ^ca   Fletcher, Amy ^ca   Harding, Alison ^ca   Laver, Fiona ^ca   Silva, Mark ^ca   Thomson, Aileen ^ca   Barnes, Kathy ^cb   Chu, Carol ^cb   Hobson, Emma ^cb   Jamieson, Stuart ^cb   Markova, Ivana ^cb   Thomson, Jenny ^cb   Toscano, Jean ^cb   Wild, Sue ^cb   Yardumian, Pam ^cb   Bourne, Colin ^cc   Clayton, Carole ^cc   Dipple, Heather ^cc   Clapton, Jackie ^cc   Grant, Janet ^cc   Gross, Diana ^cc   Hallam, Caroline ^cc   Middleton, Julia ^cc   Murch, Ann ^cc   Patino, Dawn ^cc   Andrews, Thomasin ^cd,cf   Dougherty, Andrew ^cd   Kavalier, Fred ^cd   Golding, Charlotte ^cd,cf   Lashwood, Alison ^cd   Robertson, Dene ^cd   Ruddy, Deborah ^cd   Whaite, Anna ^cd   Patton, Michael ^ce   Peterson, Maria ^ce   Rose, Sarah ^ce   Bruno, Stefania ^cf   Chu, Elvina ^cf   Doherty, Karen ^cf   Henley, Susie ^cf   Lahiri, Nayana ^cf   Novak, Marianne ^cf   Patel, Aakta ^cf   Read, Joy ^cf   Rosser, Elisabeth ^cf   Say, Miranda ^cf   Tabrizi, Sarah ^cf   Taylor, Rachel ^cf   Warner, Thomas ^cf   Wild, Edward ^cf   Arran, Natalie ^cg   Callaghan, Jenny ^cg   Craufurd, David ^cg   Fullam, Ruth ^cg   Howard, Liz ^cg   Huson, Susan ^cg   Oughton, Emma ^cg   Partington Jones, Lucy ^cg   Snowden, Julie ^cg   Sollom, Andrea ^cg   Stopford, Cheryl ^cg   Thompson, Jennifer ^cg   Trender Gerhad, Iris ^cg   Verstraelen, Nichola ^cg   Westmoreland, Leann ^cg   H Nemeth, Andrea ^ch   Suida, Gill ^ch   Harrison, David ^ci   Hughes, Max ^ci   Parkinson, Andrew ^ci   Soltysiak, Beverley ^ci   Bandmann, Oliver ^a   Bradbury, Alyson ^a   Gill, Paul ^a   Fairtlough, Helen ^a   Fillingham, Kay ^a   Foustanos, Isabella ^a   Tidswell, Katherine ^a   more..

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Institut de Pathologie et Génétique   (Belgium)

^d Department Medical Genetics   (Spain)

^e CNR   (Italy)

^f UNIVERSITY OF TÜBINGEN   (Germany)

^g NATIONAL INSTITUTE OF STANDARDS AND TECHNOLOGY   (United States)

^h UNIVERSITY HOSPITAL ULM   (Germany)

ⁱ Abteilung für Psychiatrie ^*

^j UNIVERSITY HOSPITAL GRAZ   (Austria)

^k UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

^l INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^m VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

ⁿ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^o CHARLES UNIVERSITY   (Czech Republic)

^p International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^q Rehabilitation Centre Suvituuli   (Finland)

^r UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^s CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^t ST JOSEF HOSPITAL   (Germany)

^u Reha Zentrum in Dinslaken im Gesundheitszen trums Lang   (Germany)

^v UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^w UNIVERSITY OF FREIBURG   (Germany)

^x UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^y Psychatrium Heiligenhafen   (Germany)

^z UNIVERSITY HOSPITAL MARBURG   (Germany)

^aa PHILIPPS UNIVERSITY MARBURG   (Germany)

^ab TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ac UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^ad Isar Amper Klinikum Klinik Taufkirchen (Vils)   (Germany)

^ae UNIVERSITY OF BARI   (Italy)

^af UNIVERSITY OF BOLOGNA   (Italy)

^ag UNIVERSITY OF FLORENCE   (Italy)

^ah UNIVERSITY OF GENOA   (Italy)

^ai DEPARTMENT OF NEUROSURGERY   (Italy)

^aj FEDERICO II UNIVERSITY HOSPITAL   (Italy)

^ak IRCCS NEUROMED   (Italy)

^al CATHOLIC UNIVERSITY   (Italy)

^am MEDISCH SPECTRUM TWENTE   (Netherlands)

^an Polikliniek Neurologie   (Netherlands)

^ao LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ap RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^aq OSLO UNIVERSITY HOSPITAL   (Norway)

^ar TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^as Specialist Hospital   (Poland)

^at MEDICAL UNIVERSITY OF SILESIA   (Poland)

^au Krakowska Akademia Neurologii   (Poland)

^av POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^aw MEDICAL UNIVERSITY OF WARSAW   (Poland)

^ax INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^ay HOSPITAL DE SANTA MARIA   (Portugal)

^az HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^ba HOSPITAL DE SÃO JOÃO   (Portugal)

^bb HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^bc HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

^bd HOSPITAL UNIVERSITARIO DE FUENLABRADA   (Spain)

^be HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^bf HOSPITAL RAMÓN Y CAJAL   (Spain)

^bg Instituto Reina Sofía de Investigación Nefrológica   (Spain)

^bh HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^bi HOSPITAL MÚTUA DE TERRASSA   (Spain)

^bj HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^bk Hospital Mare de Deu de La Merced   (Spain)

^bl HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^bm Universidad Pública de Navarra   (Spain)

^bn HOSPITAL UNIVERSITARIO LA FE   (Spain)

^bo KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^bp SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^bq KAROLINSKA INSTITUTE   (Sweden)

^br Neurologische Klinik und Poliklinik   (Switzerland)

^bs NHS GRAMPIAN   (United Kingdom)

^bt BIRMINGHAM AND SOLIHULL MENTAL HEALTH NHS FOUNDATION TRUST   (United Kingdom)

^bu UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^bv UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^bw WESTERN GENERAL HOSPITAL   (United Kingdom)

^bx Royal Devon and Exeter   (United Kingdom)

^by Scottish Huntington's AssociationWhyteman's Brae Hospital   (United Kingdom)

^bz Abercromby Centre   (United Kingdom)

^ca GLOUCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

^cb CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^cc Leicestershire Partnership Trust   (United Kingdom)

^cd GUY S HOSPITAL   (United Kingdom)

^ce ST GEORGE S HOSPITAL   (United Kingdom)

^cf NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^cg UNIVERSITY OF MANCHESTER   (United Kingdom)

^ch OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^ci Mount Gould Hospital   (United Kingdom)

more..

Author keywords

CAG repeat length; Huntington s disease; Standard reference materials

Indexed keywords

ALLELE; ARTICLE; CAG REPEAT; CONTROLLED STUDY; DIAGNOSTIC TEST; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GERMANY; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MEASUREMENT ERROR; PRACTICE GUIDELINE; PRIORITY JOURNAL; QUALITY CONTROL;

EID: 83255194123     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.136     Document Type: Article

References (14)

1. Huntington’s Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 1993; 72: 971-983.
2. Kremer B, Godberg P, Andrew SE et al: A worldwide study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401-1406.
3. ACMG/ASHG Statement: Laboratory guidelines for Huntington’s disease genetic testing. Am J Hum Genet 1998; 62: 1243-1247.
4. Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R: A European pilot quality assessment scheme for molecular diagnosis of Huntington’s disease. Eur J Hum Genet 1999; 7: 217-222.
5. Orth M, Handley OJ, Schwenke C et al: Observing Huntington’s disease: the European Huntington’s Disease Network’s REGISTRY [Internet]. Version 19. PLoS Curr: Huntington Dis 28 September 2010 (revised 13 April 2011): PMC2947793.
6. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
7. Warner JP, Barron LH, Brock DJ: A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington’s disease chromosomes. Mol Cell Probes 1993; 7: 235-239.
8. Riess O, Noerremoelle A, Soerensen SA, Epplen JT: Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington¢s disease. Hum Mol Genet 1993; 2: 637.
9. American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2006 Edition. Available at: http://www.acmg.net/Pages/ACMG_Activities/ stds-2002/HD.htm.
10. Kline M: Certification of Standard Reference Material for the CAG repeats of Huntington Disease, 2010, Available at: http://www.nist.gov/mml/biochemical/genetics/ huntington_disease_srm.cfm.
11. Barton D: Best Practice Guidelines for the molecular analysis of Huntington’s disease, 2010, (Personal communication). This draft guideline may be accessed at: http:// www.cmgs.org/BPGs/pdfs%20current%20bpgs/HD%20BPG%20April%202010%20for%20consultation.pdf.
12. Losekoot M, Seneca S, Kamarainen O, Patton S: Ten years’ experience in external quality assessment for genetic testing of Huntington’s disease in Europe: still room for improvement. Clin Genet 2009; 76(Suppl 1): 104-105.
13. Quarrell OW, Rigby AS, Baron L et al: Reduced penetrance alleles for Huntington’s disease: a multicentre study. J Med Genet 2007; 44: e68.
14. Williams LC, Hegde MR, Herrera G, Stapleton PM, Love DR: Comparative semiautomated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards. Mol Cell Probes 1999; 13: 283-289.