Pesquisa | Biblioteca Virtual em Saúde

1.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Holt, Richard J; Young, Rodrigo M; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J; Bellacchio, Emanuele; Bax, Dorine A; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B; Mohammed, Alaa Afif; Clokie, Samuel J H; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D; Wilson, Stephen W; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.

Am J Hum Genet; 105(3): 640-657, 2019 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-31402090

2.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C; Sullivan, Jennifer A; Shashi, Vandana; Jiang, Yong-Hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F; Turner, Anne; Jones, Wendy D; van Hasselt, Peter M; Hofstede, Floris C; van Gassen, Koen L I; Brooks, Alice S; van Slegtenhorst, Marjon A; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D; Tarpinian, Jennifer M; Rosenfeld, Jill A; Lee, Brendan H; Campeau, Philippe M.

Am J Hum Genet; 104(1): 164-178, 2019 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-30580808

3.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes, Hanneke A; Koster, Maria J E; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G Bradley; Lehman, Anna; van de Laar, Ingrid M B H; Tesselaar, Coranne D; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalová, Darina; Havlovicová, Markéta; Vlckova, Markéta; Sedlácek, Zdenek; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T; Kini, Usha; Vos, Harmjan R; van Es, Robert M; van Schaik, Richard F M A; van Essen, Ton A J; Kibaek, Maria; Taylor, Jenny C; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M; van Gassen, Koen L I; Pfundt, Rolph; Falk, Marni J; McCormick, Elizabeth M; Timmers, H T Marc; van Hasselt, Peter M.

Am J Hum Genet; 105(2): 283-301, 2019 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-31353023

4.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C.

Am J Hum Genet; 104(3): 530-541, 2019 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-30827496

5.

PFKFB3-mediated endothelial glycolysis promotes pulmonary hypertension.

Cao, Yapeng; Zhang, Xiaoyu; Wang, Lina; Yang, Qiuhua; Ma, Qian; Xu, Jiean; Wang, Jingjing; Kovacs, Laszlo; Ayon, Ramon J; Liu, Zhiping; Zhang, Min; Zhou, Yaqi; Zeng, Xianqiu; Xu, Yiming; Wang, Yong; Fulton, David J; Weintraub, Neal L; Lucas, Rudolf; Dong, Zheng; Yuan, Jason X-J; Sullivan, Jennifer C; Meadows, Louise; Barman, Scott A; Wu, Chaodong; Quan, Junmin; Hong, Mei; Su, Yunchao; Huo, Yuqing.

Proc Natl Acad Sci U S A; 116(27): 13394-13403, 2019 Jul 02.

Artigo em Inglês | MEDLINE | ID: mdl-31213542

6.

The poor outcome in high molecular risk, hydroxycarbamide resistant/intolerant ET is not ameliorated by ruxolitinib.

O'Sullivan, Jennifer M; Hamblin, Angela; Yap, Christina; Fox, Sonia; Boucher, Rebecca; Panchal, Anesh; Alimam, Samah; Dreau, Helene Mp; Howard, Kieran; Ware, Pauline; Cross, Nicholas Cp; McMullin, Mary Frances; Harrison, Claire Nicola; Mead, Adam J.

Blood; 2019 Oct 02.

Artigo em Inglês | MEDLINE | ID: mdl-31578205

7.

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Sands, Tristan T; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E; Sadleir, Lynette G; Arrington, Daniel K; Schönewolf-Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E; Mefford, Heather C; Stong, Nicholas; Heinzen, Erin L; Goldstein, David B; Perez, Ana Grijalvo; Kossoff, Eric H; Stocco, Amber; Sullivan, Jennifer A; Shashi, Vandana; Gerard, Benedicte; Francannet, Christine; Bisgaard, Anne-Marie; Tümer, Zeynep; Willems, Marjolaine; Rivier, François; Vitobello, Antonio; Thakkar, Kavita; Rajan, Deepa S; Barkovich, A James; Weckhuysen, Sarah; Cooper, Edward C; Taglialatela, Maurizio; Cilio, M Roberta.

Ann Neurol; 86(2): 181-192, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31177578

8.

Oral NaHCO₃ Activates a Splenic Anti-Inflammatory Pathway: Evidence That Cholinergic Signals Are Transmitted via Mesothelial Cells.

Ray, Sarah C; Baban, Babak; Tucker, Matthew A; Seaton, Alec J; Chang, Kyu Chul; Mannon, Elinor C; Sun, Jingping; Patel, Bansari; Wilson, Katie; Musall, Jacqueline B; Ocasio, Hiram; Irsik, Debra; Filosa, Jessica A; Sullivan, Jennifer C; Marshall, Brendan; Harris, Ryan A; O'Connor, Paul M.

J Immunol; 200(10): 3568-3586, 2018 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-29661827

9.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T; Choi, Murim; Kontrogianni-Konstantopoulos, Aikaterini.

Hum Mutat; 40(8): 1115-1126, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31264822

10.

Galectin-3 is expressed in vascular smooth muscle cells and promotes pulmonary hypertension through changes in proliferation, apoptosis, and fibrosis.

Barman, Scott A; Li, Xueyi; Haigh, Stephen; Kondrikov, Dmitry; Mahboubi, Keyvan; Bordan, Zsuzsanna; Stepp, David W; Zhou, Jiliang; Wang, Yusi; Weintraub, Daniel S; Traber, Peter; Snider, William; Jonigk, Danny; Sullivan, Jennifer; Crislip, G Ryan; Butcher, Joshua T; Thompson, Jennifer; Su, Yunchao; Chen, Feng; Fulton, David J R.

Am J Physiol Lung Cell Mol Physiol; 316(5): L784-L797, 2019 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-30724100

11.

Essential thrombocythaemia treated with recombinant interferon: 'real world' United Kingdom referral centre experience.

Desterro, Joana; McLornan, Donal P; Curto Garcia, Natalia; O'Sullivan, Jennifer; Alimam, Samah; Keohane, Clodagh; Woodley, Claire; Francis, Yvonne; Kordasti, Shahram; Radia, Deepti H; Harrison, Claire N.

Br J Haematol; 186(4): 561-564, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31090926

12.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

McConkie-Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Cope, Heidi; Spillmann, Rebecca; Palmer, Christina G S; Pena, Loren; Jiang, Yong-Hui; Daniels, Nicole; Walley, Nicole; Tan, Khoon G; Hooper, Stephen R; Shashi, Vandana.

Clin Genet; 96(6): 521-531, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31448412

13.

The Collaborative Chronic Care Model for Mental Health Conditions: From Evidence Synthesis to Policy Impact to Scale-up and Spread.

Bauer, Mark S; Weaver, Kendra; Kim, Bo; Miller, Christopher; Lew, Robert; Stolzmann, Kelly; Sullivan, Jennifer L; Riendeau, Rachel; Connolly, Samantha; Pitcock, Jeffery; Ludvigsen, Stig M; Elwy, Anashua R.

Med Care; 57 Suppl 10 Suppl 3: S221-S227, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31517791

14.

Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS.

Naidoo, Jerusha; Stanek, Lisa M; Ohno, Kousaku; Trewman, Savanah; Samaranch, Lluis; Hadaczek, Piotr; O'Riordan, Catherine; Sullivan, Jennifer; San Sebastian, Waldy; Bringas, John R; Snieckus, Christopher; Mahmoodi, Amin; Mahmoodi, Amir; Forsayeth, John; Bankiewicz, Krystof S; Shihabuddin, Lamya S.

Mol Ther; 26(10): 2418-2430, 2018 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-30057240

15.

How hospitals select their patient safety priorities: An exploratory study of four Veterans Health Administration hospitals.

George, Judy; Parker, Victoria A; Sullivan, Jennifer L; Greenan, Mary A; Chan, Jeffrey; Shin, Marlena H; Chen, Qi; Shwartz, Michael; Rosen, Amy K.

Health Care Manage Rev; 2019 Oct 25.

Artigo em Inglês | MEDLINE | ID: mdl-31498164

16.

Rationally designed AAV2 and AAVrh8R capsids provide improved transduction in the retina and brain.

Sullivan, Jennifer A; Stanek, Lisa M; Lukason, Michael J; Bu, Jie; Osmond, Shayla R; Barry, Elizabeth A; O'Riordan, Catherine R; Shihabuddin, Lamya S; Cheng, Seng H; Scaria, Abraham.

Gene Ther; 25(3): 205-219, 2018 06.

Artigo em Inglês | MEDLINE | ID: mdl-29785047

17.

High Fat Diet Induced Hypertension is Associated with a Pro-Inflammatory T Cell Profile in Male and Female Dahl Salt Sensitive Rats.

Taylor, Lia E; Gillis, Ellen E; Musall, Jacqueline B; Baban, Babak; Sullivan, Jennifer C.

Am J Physiol Heart Circ Physiol; 2018 Sep 21.

Artigo em Inglês | MEDLINE | ID: mdl-30239234

18.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena, Loren D M; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel S G; Del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Goldstein, David B; Shashi, Vandana.

Genet Med; 20(4): 464-469, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-28914269

19.

Mental Health Integration in Geriatric Patient-Aligned Care Teams in the Department of Veterans Affairs.

Moye, Jennifer; Harris, Grant; Kube, Erin; Hicken, Bret; Adjognon, Omonyêlé; Shay, Kenneth; Sullivan, Jennifer L.

Am J Geriatr Psychiatry; 2018 Sep 13.

Artigo em Inglês | MEDLINE | ID: mdl-30409549

20.

Influence of the selective COX-2 inhibitor celecoxib on sex differences in blood pressure and albuminuria in spontaneously hypertensive rats.

Elmarakby, Ahmed A; Katary, Mohamed; Pollock, Jennifer S; Sullivan, Jennifer C.

Prostaglandins Other Lipid Mediat; 135: 16-20, 2018 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-29425800

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