Pesquisa | Secretaria de Estado da Saúde

1.

FXR inhibition may protect from SARS-CoV-2 infection by reducing ACE2.

Brevini, Teresa; Maes, Mailis; Webb, Gwilym J; John, Binu V; Fuchs, Claudia D; Buescher, Gustav; Wang, Lu; Griffiths, Chelsea; Brown, Marnie L; Scott, William E; Pereyra-Gerber, Pehuén; Gelson, William T H; Brown, Stephanie; Dillon, Scott; Muraro, Daniele; Sharp, Jo; Neary, Megan; Box, Helen; Tatham, Lee; Stewart, James; Curley, Paul; Pertinez, Henry; Forrest, Sally; Mlcochova, Petra; Varankar, Sagar S; Darvish-Damavandi, Mahnaz; Mulcahy, Victoria L; Kuc, Rhoda E; Williams, Thomas L; Heslop, James A; Rossetti, Davide; Tysoe, Olivia C; Galanakis, Vasileios; Vila-Gonzalez, Marta; Crozier, Thomas W M; Bargehr, Johannes; Sinha, Sanjay; Upponi, Sara S; Fear, Corrina; Swift, Lisa; Saeb-Parsy, Kourosh; Davies, Susan E; Wester, Axel; Hagström, Hannes; Melum, Espen; Clements, Darran; Humphreys, Peter; Herriott, Jo; Kijak, Edyta; Cox, Helen.

Nature ; 615(7950): 134-142, 2023 03.

Artigo Inglês | MEDLINE | ID: mdl-36470304

2.

HIV co-infection is associated with reduced Mycobacterium tuberculosis transmissibility in sub-Saharan Africa.

Windels, Etthel M; Wampande, Eddie M; Joloba, Moses L; Boom, W Henry; Goig, Galo A; Cox, Helen; Hella, Jerry; Borrell, Sonia; Gagneux, Sebastien; Brites, Daniela; Stadler, Tanja.

PLoS Pathog ; 20(5): e1011675, 2024 May.

Artigo Inglês | MEDLINE | ID: mdl-38696531

3.

Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, Tanzania.

Zwyer, Michaela; Rutaihwa, Liliana K; Windels, Etthel; Hella, Jerry; Menardo, Fabrizio; Sasamalo, Mohamed; Sommer, Gregor; Schmülling, Lena; Borrell, Sonia; Reinhard, Miriam; Dötsch, Anna; Hiza, Hellen; Stritt, Christoph; Sikalengo, George; Fenner, Lukas; De Jong, Bouke C; Kato-Maeda, Midori; Jugheli, Levan; Ernst, Joel D; Niemann, Stefan; Jeljeli, Leila; Ballif, Marie; Egger, Matthias; Rakotosamimanana, Niaina; Yeboah-Manu, Dorothy; Asare, Prince; Malla, Bijaya; Dou, Horng Yunn; Zetola, Nicolas; Wilkinson, Robert J; Cox, Helen; Carter, E Jane; Gnokoro, Joachim; Yotebieng, Marcel; Gotuzzo, Eduardo; Abimiku, Alash'le; Avihingsanon, Anchalee; Xu, Zhi Ming; Fellay, Jacques; Portevin, Damien; Reither, Klaus; Stadler, Tanja; Gagneux, Sebastien; Brites, Daniela.

PLoS Pathog ; 19(4): e1010893, 2023 04.

Artigo Inglês | MEDLINE | ID: mdl-37014917

4.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B.

Brain ; 2024 Feb 22.

Artigo Inglês | MEDLINE | ID: mdl-38386308

5.

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 Inglês | MEDLINE | ID: mdl-32109419

6.

Oral Swab Specimens Tested With Xpert MTB/RIF Ultra Assay for Diagnosis of Pulmonary Tuberculosis in Children: A Diagnostic Accuracy Study.

Cox, Helen; Workman, Lesley; Bateman, Lindy; Franckling-Smith, Zoe; Prins, Margaretha; Luiz, Juaneta; Van Heerden, Judi; Ah Tow Edries, Lemese; Africa, Samantha; Allen, Veronica; Baard, Cynthia; Zemanay, Widaad; Nicol, Mark P; Zar, Heather J.

Clin Infect Dis ; 75(12): 2145-2152, 2022 12 19.

Artigo Inglês | MEDLINE | ID: mdl-35579497

7.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Katherine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M; Maegawa, Gustavo H B; Marcelis, Carlo L M; Mark, Paul R; Masruha, Marcelo R; McLaughlin, Heather M; McWalter, Kirsty.

Am J Hum Genet ; 104(6): 1210-1222, 2019 06 06.

Artigo Inglês | MEDLINE | ID: mdl-31079897

8.

Whole-Genome Sequencing Has the Potential To Improve Treatment for Rifampicin-Resistant Tuberculosis in High-Burden Settings: a Retrospective Cohort Study.

Cox, Helen; Goig, Galo A; Salaam-Dreyer, Zubeida; Dippenaar, Anzaan; Reuter, Anja; Mohr-Holland, Erika; Daniels, Johnny; Cudahy, Patrick G T; Nicol, Mark P; Borrell, Sonia; Reinhard, Miriam; Doetsch, Anna; Beisel, Christian; Gagneux, Sebastien; Warren, Robin M; Furin, Jennifer.

J Clin Microbiol ; 60(3): e0236221, 2022 03 16.

Artigo Inglês | MEDLINE | ID: mdl-35170980

9.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L.

Brain ; 144(12): 3597-3610, 2021 12 31.

Artigo Inglês | MEDLINE | ID: mdl-34415310

10.

Rifampicin-Monoresistant Tuberculosis Is Not the Same as Multidrug-Resistant Tuberculosis: a Descriptive Study from Khayelitsha, South Africa.

Salaam-Dreyer, Zubeida; Streicher, Elizabeth M; Sirgel, Frederick A; Menardo, Fabrizio; Borrell, Sonia; Reinhard, Miriam; Doetsch, Anna; Cudahy, Patrick G T; Mohr-Holland, Erika; Daniels, Johnny; Dippenaar, Anzaan; Nicol, Mark P; Gagneux, Sebastien; Warren, Robin M; Cox, Helen.

Antimicrob Agents Chemother ; 65(11): e0036421, 2021 10 18.

Artigo Inglês | MEDLINE | ID: mdl-34460307

11.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Parry, David A; Martin, Carol-Anne; Greene, Philip; Marsh, Joseph A; Blyth, Moira; Cox, Helen; Donnelly, Deirdre; Greenhalgh, Lynn; Greville-Heygate, Stephanie; Harrison, Victoria; Lachlan, Katherine; McKenna, Caoimhe; Quigley, Alan J; Rea, Gillian; Robertson, Lisa; Suri, Mohnish; Jackson, Andrew P.

Genet Med ; 23(2): 408-414, 2021 02.

Artigo Inglês | MEDLINE | ID: mdl-33033404

12.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

McNeill, Alisdair; Iovino, Emanuela; Mansard, Luke; Vache, Christel; Baux, David; Bedoukian, Emma; Cox, Helen; Dean, John; Goudie, David; Kumar, Ajith; Newbury-Ecob, Ruth; Fallerini, Chiara; Renieri, Alessandra; Lopergolo, Diego; Mari, Francesca; Blanchet, Catherine; Willems, Marjolaine; Roux, Anne-Francoise; Pippucci, Tommaso; Delpire, Eric.

Brain ; 143(8): 2380-2387, 2020 08 01.

Artigo Inglês | MEDLINE | ID: mdl-32658972

13.

G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

Ghamari-Langroudi, Masoud; Digby, Gregory J; Sebag, Julien A; Millhauser, Glenn L; Palomino, Rafael; Matthews, Robert; Gillyard, Taneisha; Panaro, Brandon L; Tough, Iain R; Cox, Helen M; Denton, Jerod S; Cone, Roger D.

Nature ; 520(7545): 94-8, 2015 Apr 02.

Artigo Inglês | MEDLINE | ID: mdl-25600267

14.

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Yates, Thabo M; Drucker, Morgan; Barnicoat, Angela; Low, Karen; Gerkes, Erica H; Fry, Andrew E; Parker, Michael J; O'Driscoll, Mary; Charles, Perrine; Cox, Helen; Marey, Isabelle; Keren, Boris; Rinne, Tuula; McEntagart, Meriel; Ramachandran, Vijaya; Drury, Suzanne; Vansenne, Fleur; Sival, Deborah A; Herkert, Johanna C; Callewaert, Bert; Tan, Wen-Hann; Balasubramanian, Meena.

Hum Mutat ; 41(5): 1042-1050, 2020 05.

Artigo Inglês | MEDLINE | ID: mdl-32097528

15.

HIV Coinfection Is Associated with Low-Fitness rpoB Variants in Rifampicin-Resistant Mycobacterium tuberculosis.

Loiseau, Chloé; Brites, Daniela; Reinhard, Miriam; Zürcher, Kathrin; Borrell, Sonia; Ballif, Marie; Fenner, Lukas; Cox, Helen; Rutaihwa, Liliana K; Wilkinson, Robert J; Yotebieng, Marcel; Carter, E Jane; Abimiku, Alash'le; Marcy, Olivier; Gotuzzo, Eduardo; Avihingsanon, Anchalee; Zetola, Nicola; Doulla, Basra; Böttger, Erik C; Egger, Matthias; Gagneux, Sebastien.

Antimicrob Agents Chemother ; 64(10)2020 09 21.

Artigo Inglês | MEDLINE | ID: mdl-32718966

16.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven, Hannah; Welsh, Seth J; Yu, Jing; Churchill, Mair E A; Wright, Caroline F; Henderson, Alex; Horvath, Rita; Rankin, Julia; Vogt, Julie; Magee, Alex; McConnell, Vivienne; Green, Andrew; King, Mary D; Cox, Helen; Armstrong, Linlea; Lehman, Anna; Nelson, Tanya N; Williams, Jonathan; Clouston, Penny; Hagman, James; Németh, Andrea H.

Am J Hum Genet ; 100(1): 138-150, 2017 Jan 05.

Artigo Inglês | MEDLINE | ID: mdl-28017370

17.

Tuberculosis.

Furin, Jennifer; Cox, Helen; Pai, Madhukar.

Lancet ; 393(10181): 1642-1656, 2019 Apr 20.

Artigo Inglês | MEDLINE | ID: mdl-30904262

18.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna.

Genet Med ; 22(7): 1215-1226, 2020 07.

Artigo Inglês | MEDLINE | ID: mdl-32376980

19.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F.

Genet Med ; 22(5): 878-888, 2020 05.

Artigo Inglês | MEDLINE | ID: mdl-31949314

20.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F.

Genet Med ; 22(4): 822, 2020 Apr.

Artigo Inglês | MEDLINE | ID: mdl-32047287

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