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Fletta eftir höfundi "Suri, Mohnish"

Fletta eftir höfundi "Suri, Mohnish"

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    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 
    Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Björnsson, Hans Tómas; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth (2021-07)
    Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results: ...
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    Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers 
    Page, Elizabeth C.; Bancroft, Elizabeth K.; Brook, Mark N.; Assel, Melissa; Hassan Al Battat, Mona; Thomas, Sarah; Taylor, Natalie; Chamberlain, Anthony; Pope, Jennifer; Raghallaigh, Holly Ni; Evans, D. Gareth; Rothwell, Jeanette; Maehle, Lovise; Grindedal, Eli Marie; James, Paul; Mascarenhas, Lyon; McKinley, Joanne; Side, Lucy; Thomas, Tessy; van Asperen, Christi; Vasen, Hans; Kiemeney, Lambertus A.; Ringelberg, Janneke; Jensen, Thomas Dyrsø; Osther, Palle J.S.; Helfand, Brian T.; Genova, Elena; Oldenburg, Rogier A.; Cybulski, Cezary; Wokolorczyk, Dominika; Ong, Kai-Ren; Huber, Camilla; Lam, Jimmy; Taylor, Louise; Salinas, Monica; Feliubadaló, Lidia; Oosterwijk, Jan C.; van Zelst-Stams, Wendy; Cook, Jackie; Rosario, Derek J.; Domchek, Susan; Powers, Jacquelyn; Buys, Saundra; O'Toole, Karen; Ausems, Margreet G.E.M.; Schmutzler, Rita K.; Rhiem, Kerstin; Izatt, Louise; Tripathi, Vishakha; Teixeira, Manuel R.; Cardoso, Marta; Foulkes, William D.; Aprikian, Armen; van Randeraad, Heleen; Davidson, Rosemarie; Longmuir, Mark; Ruijs, Mariëlle W.G.; Helderman van den Enden, Apollonia T.J.M.; Adank, Muriel; Williams, Rachel; Andrews, Lesley; Murphy, Declan G.; Halliday, Dorothy; Walker, Lisa; Liljegren, Annelie; Carlsson, Stefan; Azzabi, Ashraf; Jobson, Irene; Morton, Catherine; Shackleton, Kylie; Snape, Katie; Hanson, Helen; Harris, Marion; Tischkowitz, Marc; Taylor, Amy; Kirk, Judy; Susman, Rachel; Chen-Shtoyerman, Rakefet; Spigelman, Allan; Pachter, Nicholas; Ahmed, Munaza; Ramon y Cajal, Teresa; Zgajnar, Janez; Brewer, Carole; Gadea, Neus; Brady, Angela F.; van Os, Theo; Gallagher, David; Johannsson, Oskar; Donaldson, Alan; Barwell, Julian; Nicolai, Nicola; Friedman, Eitan; Obeid, Elias; Greenhalgh, Lynn; Murthy, Vedang; Copakova, Lucia; Saya, Sibel; McGrath, John; Cooke, Peter; Rønlund, Karina; Richardson, Kate; Henderson, Alex; Teo, Soo H.; Arun, Banu; Kast, Karin; Dias, Alexander; Aaronson, Neil K.; Ardern-Jones, Audrey; Bangma, Chris H.; Castro, Elena; Dearnaley, David; Eccles, Diana M.; Tricker, Karen; Eyfjörð, Jórunn Erla; Falconer, Alison; Foster, Christopher; Gronberg, Henrik; Hamdy, Freddie C.; Stefansdottir, Vigdis; Khoo, Vincent; Lindeman, Geoffrey J.; Lubinski, Jan; Axcrona, Karol; Mikropoulos, Christos; Mitra, Anita; Moynihan, Clare; Rennert, Gadi; Suri, Mohnish; Wilson, Penny; Dudderidge, Tim; Offman, Judith; Kote-Jarai, Zsofia; Vickers, Andrew; Lilja, Hans; Eeles, Rosalind A. (Elsevier BV, 2019-12)
    Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. Objective: To ...
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    Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition 
    Mikropoulos, Christos; Selkirk, Christina G Hutten; Saya, Sibel; Bancroft, Elizabeth; Vertosick, Emily; Dadaev, Tokhir; Brendler, Charles; Page, Elizabeth; Dias, Alexander; Evans, D Gareth; Rothwell, Jeanette; Maehle, Lovise; Axcrona, Karol; Richardson, Kate; Eccles, Diana; Jensen, Thomas; Osther, Palle J; van Asperen, Christi J; Vasen, Hans; Kiemeney, Lambertus A; Ringelberg, Janneke; Cybulski, Cezary; Wokolorczyk, Dominika; Hart, Rachel; Glover, Wayne; Lam, Jimmy; Taylor, Louise; Salinas, Monica; Feliubadaló, Lidia; Oldenburg, Rogier; Cremers, Ruben; Verhaegh, Gerald; van Zelst-Stams, Wendy A; Oosterwijk, Jan C; Cook, Jackie; Rosario, Derek J; Buys, Saundra S; Conner, Tom; Domchek, Susan; Powers, Jacquelyn; Ausems, Margreet GEM; Teixeira, Manuel R; Maia, Sofia; Izatt, Louise; Schmutzler, Rita; Rhiem, Kerstin; Foulkes, William D; Boshari, Talia; Davidson, Rosemarie; Ruijs, Marielle; Helderman-van den Enden, Apollonia TJM; Andrews, Lesley; Walker, Lisa; Snape, Katie; Henderson, Alex; Jobson, Irene; Lindeman, Geoffrey J; Liljegren, Annelie; Harris, Marion; Adank, Muriel A; Kirk, Judy; Taylor, Amy; Susman, Rachel; Chen-Shtoyerman, Rakefet; Pachter, Nicholas; Spigelman, Allan; Side, Lucy; Zgajnar, Janez; Mora, Josefina; Brewer, Carole; Gadea, Neus; Brady, Angela F; Gallagher, David; van Os, Theo; Donaldson, Alan; Stefansdottir, Vigdis; Barwell, Julian; James, Paul A; Murphy, Declan; Friedman, Eitan; Nicolai, Nicola; Greenhalgh, Lynn; Obeid, Elias; Murthy, Vedang; Copakova, Lucia; McGrath, John; Teo, Soo-Hwang; Strom, Sara; Kast, Karin; Leongamornlert, Daniel A; Chamberlain, Anthony; Pope, Jenny; Newlin, Anna C; Aaronson, Neil; Ardern-Jones, Audrey; Bangma, Chris; Castro, Elena; Dearnaley, David; Eyfjörð, Jórunn Erla; Falconer, Alison; Foster, Christopher S; Gronberg, Henrik; Hamdy, Freddie C; Johannsson, Oskar; Khoo, Vincent; Lubinski, Jan; Grindedal, Eli Marie; McKinley, Joanne; Shackleton, Kylie; Mitra, Anita V; Moynihan, Clare; Rennert, Gad; Suri, Mohnish; Tricker, Karen; Moss, Sue; Kote-Jarai, Zsofia; Vickers, Andrew; Lilja, Hans; Helfand, Brian T; Eeles, Rosalind A (Springer Nature, 2018-01)
    Background: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 ...