WFRF:(Gallinger B.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 08717naa a2202065 4500 | |
| 001 | oai:gup.ub.gu.se/213001 | |
| 003 | SwePub | |
| 008 | 240528s2014 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:ac767d37-23d7-488b-a918-9baf522a16b8 | |
| 009 | oai:prod.swepub.kib.ki.se:128358261 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2130012 URI |
| 024 | 7 | a https://doi.org/10.1038/ng.28542 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/42231602 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1283582612 URI |
| 040 | a (SwePub)gud (SwePub)lud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Thompson, B.A.4 aut |
| 245 | 1 0 | a Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database |
| 264 | c 2013-12-22 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2014 |
| 520 | a The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 700 | 1 | a Spurdle, A.B.4 aut |
| 700 | 1 | a Plazzer, J.P.4 aut |
| 700 | 1 | a Greenblatt, M.S.4 aut |
| 700 | 1 | a Akagi, K.4 aut |
| 700 | 1 | a Al-Mulla, F.4 aut |
| 700 | 1 | a Bapat, B.V.4 aut |
| 700 | 1 | a Bernstein, I.T.4 aut |
| 700 | 1 | a Capellá, G.M.4 aut |
| 700 | 1 | a Den Dunnen, J.T.4 aut |
| 700 | 1 | a Du Sart, D.4 aut |
| 700 | 1 | a Fabre, A.J.4 aut |
| 700 | 1 | a Farrell, M.P.4 aut |
| 700 | 1 | a Farrington, S.M.4 aut |
| 700 | 1 | a Frayling, I.M.4 aut |
| 700 | 1 | a Frébourg, T.H.4 aut |
| 700 | 1 | a Goldgar, D.E.J.4 aut |
| 700 | 1 | a Cummings, C.4 aut |
| 700 | 1 | a Holinski-Feder, E.4 aut |
| 700 | 1 | a Kohonen-Corish, M.R.J.4 aut |
| 700 | 1 | a Robinson, K.L.u Karolinska Institutet4 aut |
| 700 | 1 | a Leung, S.Y.4 aut |
| 700 | 1 | a Martins, A.4 aut |
| 700 | 1 | a Möller, P.4 aut |
| 700 | 1 | a Morak, M.4 aut |
| 700 | 1 | a Nyström, M.4 aut |
| 700 | 1 | a Peltomäki, P.T.4 aut |
| 700 | 1 | a Pineda, M.4 aut |
| 700 | 1 | a Qi, M.4 aut |
| 700 | 1 | a Ramesar, R.4 aut |
| 700 | 1 | a Rasmussen, L.J.4 aut |
| 700 | 1 | a Royer-Pokora, B.4 aut |
| 700 | 1 | a Scott, R.J.4 aut |
| 700 | 1 | a Sijmons, R.H.4 aut |
| 700 | 1 | a Tavtigian, S.V.S.V.4 aut |
| 700 | 1 | a Tops, C.M.J.4 aut |
| 700 | 1 | a Weber, T.K.4 aut |
| 700 | 1 | a Wijnen, J.T.H.4 aut |
| 700 | 1 | a Woods, M.O.4 aut |
| 700 | 1 | a Macrae, F.A.4 aut |
| 700 | 1 | a Genuardi, M.4 aut |
| 700 | 1 | a Castillejo, A.4 aut |
| 700 | 1 | a Sexton, A.C.4 aut |
| 700 | 1 | a Chan, A.K.W.4 aut |
| 700 | 1 | a Viel, A.G.M.4 aut |
| 700 | 1 | a Blanco, A.M.4 aut |
| 700 | 1 | a French, A.J.4 aut |
| 700 | 1 | a Laner, A.4 aut |
| 700 | 1 | a Wagner, A.4 aut |
| 700 | 1 | a Van Den Ouweland, A.M.W.4 aut |
| 700 | 1 | a Mensenkamp, A.R.4 aut |
| 700 | 1 | a Payá, A.4 aut |
| 700 | 1 | a Betz, B.4 aut |
| 700 | 1 | a Redeker, B.J.W.4 aut |
| 700 | 1 | a Smith, B.G.4 aut |
| 700 | 1 | a Espenschied, C.R.4 aut |
| 700 | 1 | a Cummings, C.4 aut |
| 700 | 1 | a Engel, C.4 aut |
| 700 | 1 | a Fornes, C.4 aut |
| 700 | 1 | a Valenzuela, C.4 aut |
| 700 | 1 | a Alenda, C.4 aut |
| 700 | 1 | a Buchanan, D.D.4 aut |
| 700 | 1 | a Barana, D.4 aut |
| 700 | 1 | a Konstantinova, D.V.4 aut |
| 700 | 1 | a Cairns, D.4 aut |
| 700 | 1 | a Glaser, E.4 aut |
| 700 | 1 | a Silva, F.4 aut |
| 700 | 1 | a Lalloo, F.I.4 aut |
| 700 | 1 | a Crucianelli, F.4 aut |
| 700 | 1 | a Hogervorst, F.B.L.4 aut |
| 700 | 1 | a Casey, G.R.4 aut |
| 700 | 1 | a Tomlinson, I.P.M.4 aut |
| 700 | 1 | a Blanco, I.B.S.I.4 aut |
| 700 | 1 | a Villar, I.L.4 aut |
| 700 | 1 | a García-Planells, J.4 aut |
| 700 | 1 | a Bigler, J.4 aut |
| 700 | 1 | a Shia, J.4 aut |
| 700 | 1 | a Martínez-López, J.J.4 aut |
| 700 | 1 | a Gille, J.J.P.4 aut |
| 700 | 1 | a Hopper, J.L.4 aut |
| 700 | 1 | a Potter, J.D.4 aut |
| 700 | 1 | a Soto, J.L.4 aut |
| 700 | 1 | a Kantelinen, J.4 aut |
| 700 | 1 | a Ellis, K.4 aut |
| 700 | 1 | a Mann, K.4 aut |
| 700 | 1 | a Varesco, L.4 aut |
| 700 | 1 | a Zhang, L.4 aut |
| 700 | 1 | a Marchand, L.L.4 aut |
| 700 | 1 | a Marafie, M.J.4 aut |
| 700 | 1 | a Nordling, Margareta,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xnmarx |
| 700 | 1 | a Tibiletti, M.G.4 aut |
| 700 | 1 | a Kahan, M.A.4 aut |
| 700 | 1 | a Ligtenberg, M.J.L.4 aut |
| 700 | 1 | a Clendenning, M.4 aut |
| 700 | 1 | a Jenkins, M.A.4 aut |
| 700 | 1 | a Dominguez, Mevu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-med |
| 700 | 1 | a Digweed, M.4 aut |
| 700 | 1 | a Kloor, M.4 aut |
| 700 | 1 | a Hitchins, M.P.4 aut |
| 700 | 1 | a Myers, M.4 aut |
| 700 | 1 | a Aronson, M.D.4 aut |
| 700 | 1 | a Valentin, M.D.4 aut |
| 700 | 1 | a Kutsche, M.4 aut |
| 700 | 1 | a Parsons, M.T.4 aut |
| 700 | 1 | a Walsh, M.D.4 aut |
| 700 | 1 | a Kansikas, M.4 aut |
| 700 | 1 | a Zahary, M.N.4 aut |
| 700 | 1 | a Pedroni, M.4 aut |
| 700 | 1 | a Heider, N.4 aut |
| 700 | 1 | a Poplawski, N.K.4 aut |
| 700 | 1 | a Rahner, N.4 aut |
| 700 | 1 | a Lindor, N.M.4 aut |
| 700 | 1 | a Sala, P.4 aut |
| 700 | 1 | a Nan, P.4 aut |
| 700 | 1 | a Propping, P.4 aut |
| 700 | 1 | a Newcomb, P.4 aut |
| 700 | 1 | a Sarin, R.4 aut |
| 700 | 1 | a Haile, R.W.C.4 aut |
| 700 | 1 | a Hofstra, R.M.W.4 aut |
| 700 | 1 | a Ward, R.L.4 aut |
| 700 | 1 | a Tricarico, R.4 aut |
| 700 | 1 | a Bacares, R.4 aut |
| 700 | 1 | a Young, S.4 aut |
| 700 | 1 | a Chialina, S.G.4 aut |
| 700 | 1 | a Kovalenko, S.P.4 aut |
| 700 | 1 | a Gunawardena, S.R.4 aut |
| 700 | 1 | a Moreno, S.4 aut |
| 700 | 1 | a Ho, S.4 aut |
| 700 | 1 | a Yuen, S.T.4 aut |
| 700 | 1 | a Thibodeau, S.N.4 aut |
| 700 | 1 | a Gallinger, S.S.4 aut |
| 700 | 1 | a Burnett, T.S.4 aut |
| 700 | 1 | a Teitsch, T.4 aut |
| 700 | 1 | a Chan, T.L.4 aut |
| 700 | 1 | a Smyrk, T.C.4 aut |
| 700 | 1 | a Cranston, T.4 aut |
| 700 | 1 | a Psofaki, V.4 aut |
| 700 | 1 | a Steinke-Lange, V.4 aut |
| 700 | 1 | a Barberá, V.M.4 aut |
| 710 | 2 | a Karolinska Institutetb Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik4 org |
| 773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 46:2, s. 107-115q 46:2<107-115x 1061-4036x 1546-1718 |
| 856 | 4 | u https://europepmc.org/articles/pmc4294709?pdf=render |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24362816?dopt=Abstracty FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1038/ng.2854y FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/213001 |
| 856 | 4 8 | u https://doi.org/10.1038/ng.2854 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/4223160 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:128358261 |
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- Pineda, M.
- Qi, M.
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