Pesquisa | Biblioteca Virtual em Saúde

1.

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Robevska, Gorjana; van den Bergen, Jocelyn A; Ohnesorg, Thomas; Eggers, Stefanie; Hanna, Chloe; Hersmus, Remko; Thompson, Elizabeth M; Baxendale, Anne; Verge, Charles F; Lafferty, Antony R; Marzuki, Nanis S; Santosa, Ardy; Listyasari, Nurin A; Riedl, Stefan; Warne, Garry; Looijenga, Leendert; Faradz, Sultana; Ayers, Katie L; Sinclair, Andrew H.

Hum Mutat; 39(1): 124-139, 2018 01.

Artigo em Inglês | MEDLINE | ID: mdl-29027299

2.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar, Raman; Corbett, Mark A; Van Bon, Bregje W M; Gardner, Alison; Woenig, Joshua A; Jolly, Lachlan A; Douglas, Evelyn; Friend, Kathryn; Tan, Chuan; Van Esch, Hilde; Holvoet, Maureen; Raynaud, Martine; Field, Michael; Leffler, Melanie; Budny, Bartlomiej; Wisniewska, Marzena; Badura-Stronka, Magdalena; Latos-Bielenska, Anna; Batanian, Jacqueline; Rosenfeld, Jill A; Basel-Vanagaite, Lina; Jensen, Corinna; Bienek, Melanie; Froyen, Guy; Ullmann, Reinhard; Hu, Hao; Love, Michael I; Haas, Stefan A; Stankiewicz, Pawel; Cheung, Sau Wai; Baxendale, Anne; Nicholl, Jillian; Thompson, Elizabeth M; Haan, Eric; Kalscheuer, Vera M; Gecz, Jozef.

Hum Mol Genet; 24(25): 7171-81, 2015 Dec 20.

Artigo em Inglês | MEDLINE | ID: mdl-26443594

3.

Modulating DNA methylation in activated CD8+ T cells inhibits regulatory T cell-induced binding of Foxp3 to the CD8+ T Cell IL-2 promoter.

Miller, Michelle M; Akaronu, Nnenna; Thompson, Elizabeth M; Hood, Sylvia F; Fogle, Jonathan E.

J Immunol; 194(3): 990-8, 2015 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-25548225

4.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta, Vandana A; Ravenscroft, Gianina; Shaheen, Ranad; Todd, Emily J; Swanson, Lindsay C; Shiina, Masaaki; Ogata, Kazuhiro; Hsu, Cynthia; Clarke, Nigel F; Darras, Basil T; Farrar, Michelle A; Hashem, Amal; Manton, Nicholas D; Muntoni, Francesco; North, Kathryn N; Sandaradura, Sarah A; Nishino, Ichizo; Hayashi, Yukiko K; Sewry, Caroline A; Thompson, Elizabeth M; Yau, Kyle S; Brownstein, Catherine A; Yu, Timothy W; Allcock, Richard J N; Davis, Mark R; Wallgren-Pettersson, Carina; Matsumoto, Naomichi; Alkuraya, Fowzan S; Laing, Nigel G; Beggs, Alan H.

Am J Hum Genet; 93(6): 1108-17, 2013 Dec 05.

Artigo em Inglês | MEDLINE | ID: mdl-24268659

5.

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Forrest, Charlotte E; Casey, Genevieve; Mordaunt, Dylan A; Thompson, Elizabeth M; Gordon, Lynne.

Pediatr Dermatol; 33(3): 337-42, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-27041546

6.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E H; Smithson, Sarah F; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H; Veenstra-Knol, Hermine E; Herkert, Johanna C; Lund, Allan M; Hennekam, Raoul C M; Mégarbané, André; Lees, Melissa M; Wilson, Louise C; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C; Bongers, Ernie M H F; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M; Tobias, Edward S.

Am J Med Genet A; 167A(3): 461-75, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25604898

7.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear, Kelly A; Solomon, Benjamin D; Antonini, Sonir; Arnhold, Ivo J P; França, Marcela M; Gerkes, Erica H; Grange, Dorothy K; Hadley, Donald W; Jääskeläinen, Jarmo; Paulo, Sabrina S; Rump, Patrick; Stratakis, Constantine A; Thompson, Elizabeth M; Willis, Mary; Winder, Thomas L; Jorge, Alexander A L; Roessler, Erich; Muenke, Maximilian.

J Med Genet; 51(6): 413-8, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24744436

8.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Sahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F; Cooper, Nicola S; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P; Pilz, Daniela T; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M; Cox, Helen; Firth, Helen V; Kingston, Helen; Wee, Jamie S; Hurst, Jane A; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie.

J Med Genet; 51(10): 659-68, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25125236

9.

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.

Dobson-Stone, Carol; Luty, Agnes A; Thompson, Elizabeth M; Blumbergs, Peter; Brooks, William S; Short, Cathy L; Field, Colin D; Panegyres, Peter K; Hecker, Jane; Solski, Jennifer A; Blair, Ian P; Fullerton, Janice M; Halliday, Glenda M; Schofield, Peter R; Kwok, John B J.

Acta Neuropathol; 125(4): 523-33, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23338750

10.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombenhle Louisa; Braddock, Stephen; Brookhyser, Karen; Burton, Barbara; Gaspar, Harald; Grix, Art; Horovitz, Dafne; Kanetzke, Erin; Kayserili, Hulya; Lev, Dorit; Nikkel, Sarah M; Norton, Mary; Roberts, Richard; Saal, Howard; Schaefer, G B; Schneider, Adele; Smith, Erika K; Sowry, Ellen; Spence, M Anne; Shalev, Stavit A; Steiner, Carlos E; Thompson, Elizabeth M; Winder, Thomas L; Balog, Joan Z; Hadley, Donald W; Zhou, Nan; Pineda-Alvarez, Daniel E; Roessler, Erich; Muenke, Maximilian.

J Med Genet; 49(7): 473-9, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22791840

11.

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M; Friend, Kathryn; Bain, Sharon M; Yu, Sui; Mulley, John C.

Am J Med Genet B Neuropsychiatr Genet; 162B(1): 24-35, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-23184456

12.

Functional performance in young Australian children with achondroplasia.

Ireland, Penelope Jane; McGill, James; Zankl, Andreas; Ware, Robert S; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth M; Townshend, Sharron; Johnston, Leanne Marie.

Dev Med Child Neurol; 53(10): 944-50, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-21838822

13.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker, Naomi L; Mörgelin, Matthias; Pace, Rishika A; Peat, Rachel A; Adams, Naomi E; Gardner, R J McKinlay; Rowland, Lewis P; Miller, Geoffrey; De Jonghe, Peter; Ceulemans, Berten; Hannibal, Mark C; Edwards, Matthew; Thompson, Elizabeth M; Jacobson, Richard; Quinlivan, Ros C M; Aftimos, Salim; Kornberg, Andrew J; North, Kathryn N; Bateman, John F; Lamandé, Shireen R.

Ann Neurol; 62(4): 390-405, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-17886299

14.

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Luty, Agnes A; Kwok, John B J; Thompson, Elizabeth M; Blumbergs, Peter; Brooks, William S; Loy, Clement T; Dobson-Stone, Carol; Panegyres, Peter K; Hecker, Jane; Nicholson, Garth A; Halliday, Glenda M; Schofield, Peter R.

BMC Neurol; 8: 32, 2008 Aug 29.

Artigo em Inglês | MEDLINE | ID: mdl-18755042

15.

JCAHO preparation: an educational plan.

Thompson, Elizabeth M; Pool, Sarah; Brown, Dianne; Clark, James; Ford, Donna; Gillett, Craig; Hansen, Judith; Koehler, Suzanne; Miller, Sandra; Nadeau, Shelia; Wilson, Kathy; Zastrow, Sheri.

J Contin Educ Nurs; 39(5): 225-7, 2008 May.

Artigo em Inglês | MEDLINE | ID: mdl-18512583

16.

Selective Osmotic Shock for Islet Isolation in the Cadaveric Canine Pancreas.

Thompson, Elizabeth M; Sollinger, Jennifer L; Opara, Emmanuel C; Adin, Christopher A.

Cell Transplant; 27(3): 542-550, 2018 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-29869518

17.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker, Madeleine R; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P; Turner, Tychele N; Stessman, Holly A F; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J; Sedlacek, Zdenek; Santen, Gijs W E; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R Frank; Bernier, Raphael A; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S; Eichler, Evan E.

Nat Neurosci; 20(8): 1043-1051, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28628100

18.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert B A.

Eur J Hum Genet; 24(5): 652-9, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-26306646

19.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn A; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid M; Tan, Tiong Yang; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia R; Heloury, Yves; Zacharin, Margaret; Bergman, Philip; Kimber, Chris; Brown, Justin; Webb, Nathalie; Hunter, Matthew F; Srinivasan, Shubha; Titmuss, Angela; Verge, Charles F; Mowat, David; Smith, Grahame; Smith, Janine; Ewans, Lisa; Shalhoub, Carolyn; Crock, Patricia; Cowell, Chris; Leong, Gary M; Ono, Makato; Lafferty, Antony R; Huynh, Tony; Visser, Uma; Choong, Catherine S; McKenzie, Fiona; Pachter, Nicholas; Thompson, Elizabeth M; Couper, Jennifer; Baxendale, Anne; Gecz, Jozef; Wheeler, Benjamin J; Jefferies, Craig; MacKenzie, Karen; Hofman, Paul; Carter, Philippa; King, Richard I.

Genome Biol; 17(1): 243, 2016 11 29.

Artigo em Inglês | MEDLINE | ID: mdl-27899157

20.

In vitro effect of multiple hydrogen peroxide gas plasma sterilizations on the rate of closure of ameroid constrictors.

Thompson, Elizabeth M; Towle Millard, Heather A; Moore, George E; Guptill, Lynn.

Am J Vet Res; 75(10): 924-8, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25255183

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