Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Marcinkute A"'
Autor:
Marcinkutė, Audronė, Šarkūnas, Mindaugas, Moks, Epp, Saarma, Urmas, Jokelainen, Pikka, Bagrade, Guna, Laivacuma, Sniedze, Strupas, Kęstutis, Sokolovas, Vitalijus, Deplazes, Peter
Publikováno v:
In Veterinary Parasitology 30 October 2015 213(3-4):121-131
Autor:
Gottstein, Bruno, Stojkovic, Marija, Vuitton, Dominique A., Millon, Laurence, Marcinkute, Audrone, Deplazes, Peter
Publikováno v:
In Trends in Parasitology September 2015 31(9):407-412
Autor:
Carole Brewer, Ingrid Scurr, Claire Searle, Ruta Marcinkute, Rebecca L Poole, Katrina Tatton-Brown, Diana Johnson, Peter D. Turnpenny, David Coman, Sally Ann Lynch, Pradeep C. Vasudevan, Philippa D K Curry, Anand Saggar, Emma Hobson
Publikováno v:
American Journal of Medical Genetics Part A. 185:2445-2454
Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b54af35e379316cf1d77f7beb4c0ad2
https://doi.org/10.1002/ajmg.a.62350
https://doi.org/10.1002/ajmg.a.62350
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers
Autor:
Julie Wissely, Elaine F. Harkness, D. Gareth Evans, Richard J. Edmondson, Anthony Howell, Ruta Marcinkute, Ashu Gandhi, John D. Murphy, Cathrine Holland, Emma R. Woodward, Lester Barr, Richard D Clayton, James Harvey, Emma J Crosbie, Lindsay Highton, Fiona Lalloo, Sacha J Howell
Publikováno v:
Marcinkute, R, Woodward, E, Gandhi, A, Howell, S, Crosbie, E, Wisely, J, Harvey, J, Highton, L, Murphy, J, Holland, C, Edmondson, R, Clayton, R D, Barr, L, Harkness, E, Howell, T, Lalloo, F & Evans, D G 2022, ' Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers ', Journal of Medical Genetics, vol. 59, no. 2, pp. 133-140 . https://doi.org/10.1136/jmedgenet-2020-107356
BackgroundWomen testing positive for BRCA1/2 pathogenic variants have high lifetime risks of breast cancer (BC) and ovarian cancer. The effectiveness of risk reducing surgery (RRS) has been demonstrated in numerous previous studies. We evaluated long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997a32dbc10eeedd18310d6f30b7e35e
https://doi.org/10.1136/jmedgenet-2020-107356
https://doi.org/10.1136/jmedgenet-2020-107356
Autor:
Robertas Kvascevicius, Ona Lapteva, Omar Al Awar, Egle Audronyte, Laura Neverauskiene, Eleonora Kvasceviciene, Vitalijus Sokolovas, Kestutis Strupas, Audrone Marcinkute, Peter Deplazes, Beat Müllhaupt
Publikováno v:
The Surgery Journal, Vol 02, Iss 03, Pp e83-e88 (2016)
Abstract The fox tapeworm Echinococcus multilocularis causes human alveolar echinococcosis, commonly affecting the liver. However, in ∼1% of cases, systematic spread of the disease involves the brain as well. A patient had a 6-year history of liver
Externí odkaz:
https://doaj.org/article/0e0bd798087c467e87d28224c265e27d
Autor:
Riccardi, Florence, Marcinkute, Ruta, Azevedo Soares, Celia, Calapod, Patricia Stefana, Cerqueira, Juliana Miranda, Avram, Elena, Ding, Can
Publikováno v:
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2022, 30 (3), pp.252-255. ⟨10.1038/s41431-021-01019-0⟩
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2022, 30 (3), pp.252-255. ⟨10.1038/s41431-021-01019-0⟩
International audience; No abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a43b838f6bb6f4507f203e4e721be3a
https://europepmc.org/articles/PMC8904768/
https://europepmc.org/articles/PMC8904768/
Autor:
Øyvind L. Busk, Kimberley Bradbury, Arjan Bouman, Philippe M. Campeau, Lynne M. Bird, Cornelia Kraus, Colleen Carlston, Rong Mao, Juliette Piard, Laurence Faivre, Amanda Openshaw, Catherine Ward Melver, Mohnish Suri, Christiane Zweier, François Guillemot, Rolph Pfundt, Janice C. Palumbos, Parthiv Haldipur, Jane A. Hurst, Kimberly McDonald, Margaux Serey-Gaut, Luitgard Graul-Neumann, Karen J. Low, Jenny Carmichael, Patrick Ferrerira, Birgit Elisabeth Kristiansen, Ange-Line Bruel, Constance Motter, Andrea Accogli, Darrah N. Haffner, Suhair Hanna, Ruta Marcinkute, Angela Peron, Marcella Zollino, Sofia Maia, James Lespinasse, Claire E. Turner, Sally Ann Lynch, Richard E. Person, Valeria Capra, Kimberly A. Aldinger, Constance Smith-Hicks, Gyri Aasland Gradek, Ingrid M. Wentzensen, Megha Desai, Manuela Morleo, Aditi Shah Parikh, Marcello Scala, Cristina Dias, Gunnar Houge, Telethon Undiagnosed Disease Program, Anne Slavotinek, Roberta Battini, Mary J. Green, Anna Chassevent, Tara Montgomery, David Viskochil, Tatiana Tvrdik, Dawn L. Earl, Karin Weiss, Felice D'Arco, William B. Dobyns, Ping Yee Billie Au, Daniah Beleford, Erica F. Andersen, Bert B.A. de Vries, Jill Clayton-Smith, Christophe Philippe, Michael J. Bamshad
PurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c55e8461adabd1f64e5851c2ad0e0c90
https://doi.org/10.1101/2021.09.06.21262776
https://doi.org/10.1101/2021.09.06.21262776
Autor:
Rebecca L, Poole, Philippa D K, Curry, Ruta, Marcinkute, Carole, Brewer, David, Coman, Emma, Hobson, Diana, Johnson, Sally Ann, Lynch, Anand, Saggar, Claire, Searle, Ingrid, Scurr, Peter D, Turnpenny, Pradeep, Vasudevan, Katrina, Tatton-Brown
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfe5a2cc7aaf10c590a8a16447ec4769
https://pubmed.ncbi.nlm.nih.gov/34032352
https://pubmed.ncbi.nlm.nih.gov/34032352
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Autor:
Ruta, Marcinkute, Emma Roisin, Woodward, Ashu, Gandhi, Sacha, Howell, Emma J, Crosbie, Julie, Wissely, James, Harvey, Lindsay, Highton, John, Murphy, Cathrine, Holland, Richard, Edmondson, Richard, Clayton, Lester, Barr, Elaine F, Harkness, Anthony, Howell, Fiona, Lalloo, D Gareth, Evans
Publikováno v:
Journal of medical genetics. 59(2)
Women testing positive forWomen were prospectively followed up from positive genetic test (GT) result to censor date. χ² testing compared categorical variables; Cox regression model estimated HRs and 95% CI for BC/ovarian cancer cases associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::933caef1c66eac73ed21bdd06dcea569
https://pubmed.ncbi.nlm.nih.gov/35168943
https://pubmed.ncbi.nlm.nih.gov/35168943