Pesquisa | Biblioteca Virtual em Saúde

1.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A; Buchan, Jillian G; Glissmeyer, Margaret; Popp, Bernt; Blüher, Matthias; Sayer, John A; Halbritter, Jan.

Am J Hum Genet ; 110(6): 998-1007, 2023 06 01.

Artigo em Inglês | MEDLINE | ID: mdl-37207645

2.

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Wright, Caroline F; Campbell, Patrick; Eberhardt, Ruth Y; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J; Chundru, V Kartik; Lindsay, Sarah J; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E; Middleton, Anna; Foreman, Julia; Hobson, Rachel J; Parker, Michael J; Martin, Hilary C; FitzPatrick, David R; Hurles, Matthew E; Firth, Helen V.

N Engl J Med ; 388(17): 1559-1571, 2023 Apr 27.

Artigo em Inglês | MEDLINE | ID: mdl-37043637

3.

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Miller, Kerry A; Cruz Walma, David A; Pinkas, Daniel M; Tooze, Rebecca S; Bufton, Joshua C; Richardson, William; Manning, Charlotte E; Hunt, Alice E; Cros, Julien; Hartill, Verity; Parker, Michael J; McGowan, Simon J; Twigg, Stephen R F; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O M; Bullock, Alex N.

J Med Genet ; 61(5): 490-501, 2024 Apr 19.

Artigo em Inglês | MEDLINE | ID: mdl-38296633

4.

Messing with ßc: A unique receptor with many goals.

Kan, Winnie L; Cheung Tung Shing, Karen S; Nero, Tracy L; Hercus, Timothy R; Tvorogov, Denis; Parker, Michael W; Lopez, Angel F.

Semin Immunol ; 54: 101513, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-34836771

5.

Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability.

Hodson, Charlotte; Low, Jason K K; van Twest, Sylvie; Jones, Samuel E; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K; O'Rourke, Julienne J; Parker, Benjamin L; Glaser, Astrid; Parker, Michael W; Mackay, Joel P; Blackford, Andrew N; Costa, Alessandro; Deans, Andrew J.

Proc Natl Acad Sci U S A ; 119(6)2022 02 08.

Artigo em Inglês | MEDLINE | ID: mdl-35115399

6.

Inhibitors of histone acetyltransferases KAT6A/B induce senescence and arrest tumour growth.

Baell, Jonathan B; Leaver, David J; Hermans, Stefan J; Kelly, Gemma L; Brennan, Margs S; Downer, Natalie L; Nguyen, Nghi; Wichmann, Johannes; McRae, Helen M; Yang, Yuqing; Cleary, Ben; Lagiakos, H Rachel; Mieruszynski, Stephen; Pacini, Guido; Vanyai, Hannah K; Bergamasco, Maria I; May, Rose E; Davey, Bethany K; Morgan, Kimberly J; Sealey, Andrew J; Wang, Beinan; Zamudio, Natasha; Wilcox, Stephen; Garnham, Alexandra L; Sheikh, Bilal N; Aubrey, Brandon J; Doggett, Karen; Chung, Matthew C; de Silva, Melanie; Bentley, John; Pilling, Pat; Hattarki, Meghan; Dolezal, Olan; Dennis, Matthew L; Falk, Hendrik; Ren, Bin; Charman, Susan A; White, Karen L; Rautela, Jai; Newbold, Andrea; Hawkins, Edwin D; Johnstone, Ricky W; Huntington, Nicholas D; Peat, Thomas S; Heath, Joan K; Strasser, Andreas; Parker, Michael W; Smyth, Gordon K; Street, Ian P; Monahan, Brendon J.

Nature ; 560(7717): 253-257, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-30069049

7.

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.

McInnes-Dean, Hannah; Mellis, Rhiannon; Daniel, Morgan; Walton, Holly; Baple, Emma L; Bertoli, Marta; Fisher, Jane; Gajewska-Knapik, Katarzyna; Holder-Espinasse, Muriel; Lafarge, Caroline; Leeson-Beevers, Kerry; McEwan, Alec; Pandya, Pranav; Parker, Michael; Peet, Sophie; Roberts, Lauren; Sankaran, Srividhya; Smith, Audrey; Tapon, Dagmar; Wu, Wing Han; Wynn, Sarah L; Chitty, Lyn S; Hill, Melissa; Peter, Michelle.

Prenat Diagn ; 44(4): 465-479, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38441167

8.

Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues.

Sahan, Kate; Lyle, Kate; Carley, Helena; Hallowell, Nina; Parker, Michael J; Lucassen, Anneke M.

J Med Ethics ; 2024 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-38320848

9.

Getting rights right: implementing 'Martha's Rule'.

Graham, Mackenzie; Hanson, Isabel; Hart, James; Young, Peter; Lignou, Sapfo; Parker, Michael J; Sheehan, Mark.

J Med Ethics ; 2024 Jan 06.

Artigo em Inglês | MEDLINE | ID: mdl-38184371

10.

Design of proteasome inhibitors with oral efficacy in vivo against Plasmodium falciparum and selectivity over the human proteasome.

Xie, Stanley C; Metcalfe, Riley D; Mizutani, Hirotake; Puhalovich, Tanya; Hanssen, Eric; Morton, Craig J; Du, Yawei; Dogovski, Con; Huang, Shih-Chung; Ciavarri, Jeffrey; Hales, Paul; Griffin, Robert J; Cohen, Lawrence H; Chuang, Bei-Ching; Wittlin, Sergio; Deni, Ioanna; Yeo, Tomas; Ward, Kurt E; Barry, Daniel C; Liu, Boyin; Gillett, David L; Crespo-Fernandez, Benigno F; Ottilie, Sabine; Mittal, Nimisha; Churchyard, Alisje; Ferguson, Daniel; Aguiar, Anna Caroline C; Guido, Rafael V C; Baum, Jake; Hanson, Kirsten K; Winzeler, Elizabeth A; Gamo, Francisco-Javier; Fidock, David A; Baud, Delphine; Parker, Michael W; Brand, Stephen; Dick, Lawrence R; Griffin, Michael D W; Gould, Alexandra E; Tilley, Leann.

Proc Natl Acad Sci U S A ; 118(39)2021 09 28.

Artigo em Inglês | MEDLINE | ID: mdl-34548400

11.

Assessing the Knowledge and Comfort Level of US Family Medicine Residents Regarding Consenting and Confidentiality in Adolescent Health Care.

Eniola, Kehinde; Brown, Carina; Pray, Margaret; Foster, Krys E; Richter, Scott; Parker, Michael; Carvajal, Diana N.

South Med J ; 117(5): 272-278, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38701849

12.

Translating the biology of ß common receptor-engaging cytokines into clinical medicine.

Pant, Harshita; Hercus, Timothy R; Tumes, Damon J; Yip, Kwok Ho; Parker, Michael W; Owczarek, Catherine M; Lopez, Angel F; Huston, David P.

J Allergy Clin Immunol ; 151(2): 324-344, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36424209

13.

Covalent Inhibition by a Natural Product-Inspired Latent Electrophile.

Byun, David P; Ritchie, Jennifer; Jung, Yejin; Holewinski, Ronald; Kim, Hong-Rae; Tagirasa, Ravichandra; Ivanic, Joseph; Weekley, Claire M; Parker, Michael W; Andresson, Thorkell; Yoo, Euna.

J Am Chem Soc ; 145(20): 11097-11109, 2023 05 24.

Artigo em Inglês | MEDLINE | ID: mdl-37183434

14.

Efficacy and toxicity of primary re-irradiation for malignant spinal cord compression based on radiobiological modelling: a phase II clinical trial.

Wallace, Neil D; Dunne, Mary T; McArdle, Orla; Small, Cormac; Parker, Imelda; Shannon, Aoife M; Clayton-Lea, Angela; Parker, Michael; Collins, Conor D; Armstrong, John G; Gillham, Charles; Coffey, Jerome; Fitzpatrick, David; Salib, Osama; Moriarty, Michael; Stevenson, Michael R; Alvarez-Iglesias, Alberto; McCague, Michael; Thirion, Pierre G.

Br J Cancer ; 128(4): 576-585, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36482188

15.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Nabais Sá, Maria J; El Tekle, Geniver; de Brouwer, Arjan P M; Sawyer, Sarah L; Del Gaudio, Daniela; Parker, Michael J; Kanani, Farah; van den Boogaard, Marie-José H; van Gassen, Koen; Van Allen, Margot I; Wierenga, Klaas; Purcarin, Gabriela; Elias, Ellen Roy; Begtrup, Amber; Keller-Ramey, Jennifer; Bernasocchi, Tiziano; van de Wiel, Laurens; Gilissen, Christian; Venselaar, Hanka; Pfundt, Rolph; Vissers, Lisenka E L M; Theurillat, Jean-Philippe P; de Vries, Bert B A.

Am J Hum Genet ; 106(3): 405-411, 2020 03 05.

Artigo em Inglês | MEDLINE | ID: mdl-32109420

16.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Barbosa, Sónia; Greville-Heygate, Stephanie; Bonnet, Maxime; Godwin, Annie; Fagotto-Kaufmann, Christine; Kajava, Andrey V; Laouteouet, Damien; Mawby, Rebecca; Wai, Htoo Aung; Dingemans, Alexander J M; Hehir-Kwa, Jayne; Willems, Marjorlaine; Capri, Yline; Mehta, Sarju G; Cox, Helen; Goudie, David; Vansenne, Fleur; Turnpenny, Peter; Vincent, Marie; Cogné, Benjamin; Lesca, Gaëtan; Hertecant, Jozef; Rodriguez, Diana; Keren, Boris; Burglen, Lydie; Gérard, Marion; Putoux, Audrey; Cantagrel, Vincent; Siquier-Pernet, Karine; Rio, Marlene; Banka, Siddharth; Sarkar, Ajoy; Steeves, Marcie; Parker, Michael; Clement, Emma; Moutton, Sébastien; Tran Mau-Them, Frédéric; Piton, Amélie; de Vries, Bert B A; Guille, Matthew; Debant, Anne; Schmidt, Susanne; Baralle, Diana.

Am J Hum Genet ; 106(3): 338-355, 2020 03 05.

Artigo em Inglês | MEDLINE | ID: mdl-32109419

17.

Investigation of center-specific saphenous vein utilization rates in femoral popliteal artery bypass and associated impact of conduit on outcomes.

Parker, Michael; Penton, Ashley; McDonnell, Shannon; Kolde, Grant; Babrowski, Trissa; Blecha, Matthew.

J Vasc Surg ; 78(6): 1497-1512.e3, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-37648090

18.

Objective assessment of physician work in infrainguinal arterial bypass surgery.

Blecha, Matthew; Babrowski, Trissa; Penton, Ashley; Alvarez, Cindy Cruz; Parker, Michael; DeJong, Matthew; Sideman, Matthew.

J Vasc Surg ; 78(5): 1322-1332.e1, 2023 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-37482140

19.

COVID-19 vaccination in pregnancy: the impact of multimorbidity and smoking status on vaccine hesitancy, a cohort study of 25,111 women in Wales, UK.

Mhereeg, Mohamed; Jones, Hope; Kennedy, Jonathan; Seaborne, Mike; Parker, Michael; Kennedy, Natasha; Akbari, Ashley; Zuccolo, Luisa; Azcoaga-Lorenzo, Amaya; Davies, Alisha; Nirantharakumar, Krishnarajah; Brophy, Sinead.

BMC Infect Dis ; 23(1): 594, 2023 Sep 11.

Artigo em Inglês | MEDLINE | ID: mdl-37697235

20.

The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation.

Hansen, Guido; Hercus, Timothy R; McClure, Barbara J; Stomski, Frank C; Dottore, Mara; Powell, Jason; Ramshaw, Hayley; Woodcock, Joanna M; Xu, Yibin; Guthridge, Mark; McKinstry, William J; Lopez, Angel F; Parker, Michael W.

Cell ; 134(3): 496-507, 2008 Aug 08.

Artigo em Inglês | MEDLINE | ID: mdl-18692472

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