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Necrotising fasciitis is an uncommon but life-threatening soft tissue infection characterised by rapidly spreading inflammation and necrosis of skin, subcutaneous fat and fascia. Left untreated, the mortality can be more than 70%. Early surgical inte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207c888d2d92473194db64e16433fe2a
https://europepmc.org/articles/PMC3298976/
https://europepmc.org/articles/PMC3298976/
Autor:
Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
Publikováno v:
Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84
Autor:
Silvestre Oltra, Carmen Orellana, Mónica Roselló, Alfonso Caro-Llopis, Francisco Martínez, Sandra Monfort
Publikováno v:
SCIENTIFIC REPORTS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Monfort Membrado, Sandra Orellana Alonso, Carmen Oltra Soler, Juan Silvestre Roselló Piera, Mónica Pilar Caro-Llopis, Alfonso Martínez Castellano, Francisco 2021 Prevalence of pathogenic copy number variants among children conceived by donor oocyte Scientific Reports 11 6752
Scientific Reports
RODERIC. Repositorio Institucional de la Universitat de Valéncia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Monfort Membrado, Sandra Orellana Alonso, Carmen Oltra Soler, Juan Silvestre Roselló Piera, Mónica Pilar Caro-Llopis, Alfonso Martínez Castellano, Francisco 2021 Prevalence of pathogenic copy number variants among children conceived by donor oocyte Scientific Reports 11 6752
Scientific Reports
RODERIC. Repositorio Institucional de la Universitat de Valéncia
Development of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590b76e05765b1c02a8e7f3c6a869734
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14095
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14095
Autor:
Andrea Telek, György Balla, Mátyás Benyó, Gábor Csanádi, Csongor Kiss, László Csernoch, Balázs Kutasy, Ilona Kovács, Tibor Flaskó, Tamás Józsa
The purpose of this study was to investigate the effects of an elevated hydrostatic pressure of hydrocele on the structural integrity and steroid receptor expression pattern of the appendix testis in children. Twenty-six testicular appendages were ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92b456c766c0e82bac003bd8477b4be
https://europepmc.org/articles/PMC3735326/
https://europepmc.org/articles/PMC3735326/
Autor:
Nunzia Borrelli, Elena Karagadova, Valentina Bucciarelli, Martina Avesani, Enrico Piccinelli, Josefa Paredes, Jethro Herberg, Jolanda Sabatino, Alain Fraisse, Maraisa Spada, Sylvia Krupickova, Giovanni Di Salvo, Ciro Indolfi, Manjit Josen
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Kawasaki disease (KD) can be associated with high morbidity and mortality due to coronary artery aneurysms formation and myocardial dysfunction. Aim of this study was to evaluate the diagnostic performance of non-invasive myocardial work in predictin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5a3a306534c29efd6805f2f5286c05
http://hdl.handle.net/10044/1/88845
http://hdl.handle.net/10044/1/88845
Autor:
Barbara De Moerloose, Filip Van Nieuwerburgh, Charlotte M. Niemeyer, Pieter Van Vlierberghe, Wouter Van Loocke, Barbara Depreter, Ying Wu, Christian Flotho, Dieter Deforce, Valerie de Haas, Jan Stary, Aurélie Caye, Tim Lammens, Mattias Hofmans, Miriam Erlacher, Hélène Cavé, Jan Philippé
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
SCIENTIFIC REPORTS
Scientific Reports
SCIENTIFIC REPORTS
Juvenile myelomonocytic leukemia (JMML) treatment primarily relies on hematopoietic stem cell transplantation and results in long-term overall survival of 50–60%, demonstrating a need to develop novel treatments. Dysregulation of the non-coding RNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d5c256e7c3dc085d2ac6e488fbc522
https://biblio.vub.ac.be/vubir/long-noncoding-rnas-as-novel-therapeutic-targets-in-juvenile-myelomonocytic-leukemia-i(a89973d2-c8ef-42f2-ba22-b6dee97272f0).html
https://biblio.vub.ac.be/vubir/long-noncoding-rnas-as-novel-therapeutic-targets-in-juvenile-myelomonocytic-leukemia-i(a89973d2-c8ef-42f2-ba22-b6dee97272f0).html
Autor:
Ingrid M.E. Frohn-Mulder, Rolf M. F. Berger, Robert M.W. Hofstra, Jolien W. Roos-Hesselink, Wilhelmina S. Kerstjens-Frederikse, Klaske D. Lichtenbelt, Ingrid M.B.H. van de Laar, Jolien S. Klein Wassink-Ruiter, Marja W. Wessels, Yvonne J. Vos, Johan H P Janssen, Joost P. van Melle, Karin Y. van Spaendonck-Zwarts, C. M. Bilardo, Paul A. van der Zwaag, Judith M.A. Verhagen, Klasien A. Bergman, Gideon J. du Marchie Sarvaas
Publikováno v:
Genetics in Medicine, 18(9), 914-923. Nature Publishing Group
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left
Autor:
Susan T.J.C.M. Arentsen-Peters, S S N de Graaf, H B Beverloo, Sanne Lugthart, Martin Zimmermann, Jan Stary, Christian M. Zwaan, M M van den Heuvel-Eibrink, Brian V. Balgobind, E. S. J. M. de Bont, E. R. Van Wering, Gertjan J.L. Kaspers, U. Creutzig, Ruud Delwel, Dirk Reinhardt, Rob Pieters, Jan Trka, Iris H.I.M. Hollink
Publikováno v:
Balgobind, B V, Lugthart, S, Hollink, I H, Arentsen-Peters, S T J C, van Wering, E R, de Graaf, S S N, Reinhardt, D, Creutzig, U, Kaspers, G J L, De Bont, E S J M, Stary, J, Trka, J, Zimmermann, M, Beverloo, HB, Pieters, R, Delwel, R, Zwaan, C M & van den Heuvel-Eibrink, M 2010, ' EVI1 overexpression in distinct subtypes of pediatric acute myeloid leukemia ', Leukemia, vol. 24, no. 5, pp. 942-949 . https://doi.org/10.1038/leu.2010.47
Leukemia, 24(5), 942-949. Nature Publishing Group
Leukemia, 24, 5, pp. 942-9
Leukemia, 24, 942-9
Leukemia, 24(5), 942-949. Nature Publishing Group
Leukemia, 24, 5, pp. 942-9
Leukemia, 24, 942-9
Overexpression of the ecotropic virus integration-1 (EVI1) gene (EVI1+), localized at chromosome 3q26, is associated with adverse outcome in adult acute myeloid leukemia (AML). In pediatric AML, 3q26 abnormalities are rare, and the role of EVI1 is un
Publikováno v:
British Journal of Cancer
Bone mineral density (BMD), serum osteocalcin and type I collagen C-telopeptide (ICTP) were assessed in a cohort of 31 (16 males) adults who had received cranial irradiation in childhood as part of their treatment for acute lymphoblastic leukaemia (A
Publikováno v:
British Journal of Cancer
The Wilms' tumour is a solid childhood tumour of the kidney, consisting of blastema, tubules and mesenchyme. Embryonic tumours, such as Wilms', may arise as a result of a developmental disturbance in differentiation. The expression of class I and II