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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 3
2006 8
2007 11
2008 11
2009 9
2010 5
2011 6
2012 4
2013 4
2014 4
2015 5
2016 3
2017 7
2018 8
2019 9
2020 6
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90 results
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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: concolino p. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E. Concolino P, et al. Int J Mol Sci. 2019 Jul 12;20(14):3442. doi: 10.3390/ijms20143442. Int J Mol Sci. 2019. PMID: 31336956 Free PMC article.
Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.
Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P. Rizza R, et al. Among authors: concolino p. Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2. Mol Diagn Ther. 2019. PMID: 30506513
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.
Minucci A, Mazzuccato G, D'Indinosante M, Di Nardo L, Concolino P, De Bonis M, Urbani A, Scambia G, Fagotti A, Capoluongo E. Minucci A, et al. Among authors: concolino p. Mol Biol Rep. 2020 Feb;47(2):1513-1520. doi: 10.1007/s11033-019-05199-3. Epub 2019 Dec 12. Mol Biol Rep. 2020. PMID: 31833030
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E. Concolino P, et al. Metabolism. 2017 Jun;71:46-51. doi: 10.1016/j.metabol.2017.03.003. Epub 2017 Mar 9. Metabolism. 2017. PMID: 28521877 Review.
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P, Costella A, Paragliola RM. Concolino P, et al. Mol Diagn Ther. 2019 Jun;23(3):353-368. doi: 10.1007/s40291-019-00399-w. Mol Diagn Ther. 2019. PMID: 30976996 Review.
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome.
Chiloiro S, Capoluongo ED, Schinzari G, Concolino P, Rossi E, Martini M, Cocomazzi A, Grande G, Milardi D, Maiorano BA, Giampietro A, Rindi G, Pontecorvi A, De Marinis L, Bianchi A. Chiloiro S, et al. Among authors: concolino p. Front Endocrinol (Lausanne). 2019 Jun 12;10:365. doi: 10.3389/fendo.2019.00365. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 31249555 Free PMC article.
A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.
Concolino P, Rizza R, Mignone F, Costella A, Guarino D, Carboni I, Capoluongo E, Santonocito C, Urbani A, Minucci A. Concolino P, et al. Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16. Clin Chim Acta. 2018. PMID: 29458049 No abstract available.
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