Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J V; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo.

Am J Hum Genet ; 110(8): 1356-1376, 2023 08 03.

Artigo em Inglês | MEDLINE | ID: mdl-37421948

2.

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.

Lee, Sunwoo; Menzies, Lara; Hay, Eleanor; Ochoa, Eguzkine; Docquier, France; Rodger, Fay; Deshpande, Charu; Foulds, Nicola C; Jacquemont, Sébastien; Jizi, Khadije; Kiep, Henriette; Kraus, Alison; Löhner, Katharina; Morrison, Patrick J; Popp, Bernt; Richardson, Ruth; van Haeringen, Arie; Martin, Ezequiel; Toribio, Ana; Li, Fudong; Jones, Wendy D; Sansbury, Francis H; Maher, Eamonn R.

Hum Mol Genet ; 32(22): 3123-3134, 2023 11 03.

Artigo em Inglês | MEDLINE | ID: mdl-37166351

3.

Harmful algal blooms in Cayuga lake, NY: From microbiome analysis to eDNA monitoring.

Wang, Nan; Mark, Noah; Launer, Nathaniel; Hirtler, Adrianna; Weston, Claire; Cleckner, Lisa; Faehndrich, Chloe; LaGorga, Lydia; Xia, Lingzi; Pyrek, Daniel; Penningroth, Stephen M; Richardson, Ruth E.

J Environ Manage ; 354: 120128, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38382427

4.

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Edgerley, Katharine; Bryson, Lisa; Hanington, Lucy; Irving, Rachel; Joss, Shelagh; Lampe, Anne; Maystadt, Isabelle; Osio, Deborah; Richardson, Ruth; Split, Miranda; Sansbury, Francis H; Scurr, Ingrid; Stewart, Helen; McNeil, Alisdair; Low, Karen.

Am J Med Genet A ; 191(5): 1447-1458, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36861937

5.

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K; Clayton-Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S; McEntagart, Meriel; Parker, Michael J; Radley, Jessica A; Robertson, Lisa; Ruivenkamp, Claudia; Rutten, Julie W; Tellez, James; Turnpenny, Peter D; Wilson, Valerie; Wright, Michael; Balasubramanian, Meena.

Am J Med Genet A ; 188(3): 867-877, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-34894057

6.

Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.

Radley, Jessica A; Connolly, Melissa; Sabir, Ataf; Kanani, Farah; Carley, Helena; Jones, Rachel L; Hyder, Zerin; Gompertz, Lianne; Reardon, Willie; Richardson, Ruth; McClelland, Louise; Maher, Eamonn R.

Clin Genet ; 100(3): 292-297, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-33993487

7.

Relationship Between Peat Type and Microbial Ecology in Sphagnum-Containing Peatlands of the Adirondack Mountains, NY, USA.

St James, Andrew R; Lin, Janni; Richardson, Ruth E.

Microb Ecol ; 82(2): 429-441, 2021 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-33410936

8.

Methane Monooxygenase Gene Transcripts as Quantitative Biomarkers of Methanotrophic Activity in Methylosinus trichosporium OB3b.

Tentori, Egidio F; Richardson, Ruth E.

Appl Environ Microbiol ; 86(23)2020 11 10.

Artigo em Inglês | MEDLINE | ID: mdl-32948519

9.

Altered Microbiome Leads to Significant Phenotypic and Transcriptomic Differences in a Lipid Accumulating Chlorophyte.

Richter, Lubna V; Mansfeldt, Cresten B; Kuan, Michael M; Cesare, Alexandra E; Menefee, Stephen T; Richardson, Ruth E; Ahner, Beth A.

Environ Sci Technol ; 52(12): 6854-6863, 2018 06 19.

Artigo em Inglês | MEDLINE | ID: mdl-29750518

10.

A new nutrition manifesto for a new nutrition reality.

Branca, Francesco; Demaio, Alessandro; Udomkesmalee, Emorn; Baker, Phillip; Aguayo, Victor M; Barquera, Simon; Dain, Katie; Keir, Lindsay; Lartey, Anna; Mugambi, Gladys; Oenema, Stineke; Piwoz, Ellen; Richardson, Ruth; Singh, Sudhvir; Sullivan, Lucy; Verburg, Gerda; Fracassi, Patrizia; Mahy, Lina; Neufeld, Lynnette M.

Lancet ; 395(10217): 8-10, 2020 01 04.

Artigo em Inglês | MEDLINE | ID: mdl-31852600

11.

Henry Gray, plagiarist.

Richardson, Ruth.

Clin Anat ; 29(2): 135-9, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26696521

12.

Identification of proteins capable of metal reduction from the proteome of the Gram-positive bacterium Desulfotomaculum reducensâMI-1 using an NADH-based activity assay.

Otwell, Anne Elyse; Sherwood, Robert W; Zhang, Sheng; Nelson, Ornella D; Li, Zhi; Lin, Hening; Callister, Stephen J; Richardson, Ruth E.

Environ Microbiol ; 17(6): 1977-90, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25389064

13.

Molecular dissection of a putative iron reductase from Desulfotomaculum reducens MI-1.

Li, Zhi; Kim, David D; Nelson, Ornella D; Otwell, Anne E; Richardson, Ruth E; Callister, Stephen J; Lin, Hening.

Biochem Biophys Res Commun ; 467(3): 503-8, 2015 Nov 20.

Artigo em Inglês | MEDLINE | ID: mdl-26454174

14.

Relating mRNA and protein biomarker levels in a Dehalococcoides and Methanospirillum-containing community.

Rowe, Annette R; Mansfeldt, Cresten B; Heavner, Gretchen L; Richardson, Ruth E.

Appl Microbiol Biotechnol ; 99(5): 2313-27, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25467924

15.

Meta-analyses of Dehalococcoides mccartyi strain 195 transcriptomic profiles identify a respiration rate-related gene expression transition point and interoperon recruitment of a key oxidoreductase subunit.

Mansfeldt, Cresten B; Rowe, Annette R; Heavner, Gretchen L W; Zinder, Stephen H; Richardson, Ruth E.

Appl Environ Microbiol ; 80(19): 6062-72, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25063656

16.

Methanospirillum respiratory mRNA biomarkers correlate with hydrogenotrophic methanogenesis rate during growth and competition for hydrogen in an organochlorine-respiring mixed culture.

Rowe, Annette R; Mansfeldt, Cresten B; Heavner, Gretchen L; Richardson, Ruth E.

Environ Sci Technol ; 47(1): 372-81, 2013 Jan 02.

Artigo em Inglês | MEDLINE | ID: mdl-23153046

17.

Molecular biomarker-based biokinetic modeling of a PCE-dechlorinating and methanogenic mixed culture.

Heavner, Gretchen L W; Rowe, Annette R; Mansfeldt, Cresten B; Pan, Ju Khuan; Gossett, James M; Richardson, Ruth E.

Environ Sci Technol ; 47(8): 3724-33, 2013 Apr 16.

Artigo em Inglês | MEDLINE | ID: mdl-23363057

18.

Staff perceptions of respiratory rate measurement in a general hospital.

Philip, Keir; Richardson, Ruth; Cohen, Maurice.

Br J Nurs ; 22(10): 570-4, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23752455

19.

Norman Dott's dome-shaped neurosurgical operating theatres in Edinburgh (1960-2020) - End of an era.

Demetriades, Andreas K; Chan, Chelsea; Richardson, Ruth.

J Med Biogr ; : 9677720231153163, 2023 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-36726330

20.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Lyu, Hang; Boßelmann, Christian M; Johannesen, Katrine M; Koko, Mahmoud; Ortigoza-Escobar, Juan Dario; Aguilera-Albesa, Sergio; Garcia-Navas Núñez, Deyanira; Linnankivi, Tarja; Gaily, Eija; van Ruiten, Henriette J A; Richardson, Ruth; Betzler, Cornelia; Horvath, Gabriella; Brilstra, Eva; Geerdink, Niels; Orsucci, Daniele; Tessa, Alessandra; Gardella, Elena; Fleszar, Zofia; Schöls, Ludger; Lerche, Holger; Møller, Rikke S; Liu, Yuanyuan.

EBioMedicine ; 98: 104855, 2023 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-38251463

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