Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Andreia Rangel‐Santos"'
Autor:
Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias
Externí odkaz:
https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4
Autor:
Marília Moreira, Montenegro, Débora, Camilotti, Caio Robledo D'Anglioli Costa, Quaio, Yanca, Gasparini, Évelin Aline, Zanardo, Andreia, Rangel-Santos, Gil Monteiro, Novo-Filho, Gleyson, Francisco, Lucas, Liro, Amom, Nascimento, Samar Nasser, Chehimi, Diogo Cordeiro Queiroz, Soares, Ana C V, Krepischi, Marcília Sierro, Grassi, Rachel Sayuri, Honjo, Patricia, Palmeira, Chong Ae, Kim, Magda Maria Sales, Carneiro-Sampaio, Carla, Rosenberg, Leslie Domenici, Kulikowski
Publikováno v:
The Journal of Pediatrics. 252:56-60.e2
To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS.This report is part of a previous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd70af18e06876bb863e1edec8851758
https://doi.org/10.1016/j.jpeds.2022.08.051
https://doi.org/10.1016/j.jpeds.2022.08.051
Autor:
Jocelyne Demengeot, Clovis A. Silva, Magda Maria Salles Carneiro-Sampaio, Íris Caramalho, Bernadete L. Liphaus, Andreia Rangel-Santos
Publikováno v:
Annals of the Rheumatic Diseases. 79:427-428
Juvenile systemic lupus erythematosus (JSLE) is considered a polygenic disease, although identified causes of monogenic SLE and lupus-like syndrome are enlarging.1 2 The genetic basis of polyautoimmune syndromes is also being elucidated, now includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::689c16356b99744fcd5a6ad3ceead920
https://doi.org/10.1136/annrheumdis-2019-216410
https://doi.org/10.1136/annrheumdis-2019-216410
Autor:
Vicente Odone Filho, Fabio Albuquerque Marchi, Estela Maria Novak, Leslie Domenici Kulikowski, Andreia Rangel Santos, Thamiris Magalhaes Gimenez, Nathalia Halley Neves, Lilian Maria Cristofani
Publikováno v:
Clinical Cancer Research. 24:B13-B13
Due to heterogeneity of the neuroblastoma (NB) tumor, next-generation personalized medicine may identify therapeutic targets. Gene expression alterations of BLM (Bloom Syndrome RecQ Like Helicase) and FOX (Forkhead-box) family have been associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60364cbdad98e26a0edf1232681ac5ef
https://doi.org/10.1158/1557-3265.tcm17-b13
https://doi.org/10.1158/1557-3265.tcm17-b13
Autor:
Joao Bosco Oliveira, Jennifer Stoddard, Douglas B. Kuhns, Mingchang Zhang, Hye Sun Kuehn, Gulbu Uzel, Ashleigh A. Hussey, Julie E. Niemela, Thomas A. Fleisher, Andreia Rangel-Santos, C. Lucy Park, Moses O. Evbuomwan, Stefania Pittaluga, Debra A. Long Priel
Defective lymphocyte apoptosis results in chronic lymphadenopathy and/or splenomegaly associated with autoimmune phenomena. The prototype for human apoptosis disorders is the autoimmune lymphoproliferative syndrome (ALPS), which is caused by mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab121e1de8838c3d20448a105ef60a2b
https://europepmc.org/articles/PMC3630827/
https://europepmc.org/articles/PMC3630827/
Autor:
Sandro Félix Perazzio, Patricia Palmeira, Dewton Moraes-Vasconcelos, Andréia Rangel-Santos, João Bosco de Oliveira, Luis Eduardo Coelho Andrade, Magda Carneiro-Sampaio
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other cli
Externí odkaz:
https://doaj.org/article/e628662cc1d44f1b8238f8936443ee5a
Autor:
Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires. Clinical and immunological phenotypes of patients with RAG deficiencie
Externí odkaz:
https://doaj.org/article/12842030496146b193b8907a9cb895ac