Pesquisa | Biblioteca Virtual em Saúde

1.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Donkervoort, Sandra; Kutzner, Carl E; Hu, Ying; Lornage, Xavière; Rendu, John; Stojkovic, Tanya; Baets, Jonathan; Neuhaus, Sarah B; Tanboon, Jantima; Maroofian, Reza; Bolduc, Véronique; Mroczek, Magdalena; Conijn, Stefan; Kuntz, Nancy L; Töpf, Ana; Monges, Soledad; Lubieniecki, Fabiana; McCarty, Riley M; Chao, Katherine R; Governali, Serena; Böhm, Johann; Boonyapisit, Kanokwan; Malfatti, Edoardo; Sangruchi, Tumtip; Horkayne-Szakaly, Iren; Hedberg-Oldfors, Carola; Efthymiou, Stephanie; Noguchi, Satoru; Djeddi, Sarah; Iida, Aritoshi; di Rosa, Gabriella; Fiorillo, Chiara; Salpietro, Vincenzo; Darin, Niklas; Fauré, Julien; Houlden, Henry; Oldfors, Anders; Nishino, Ichizo; de Ridder, Willem; Straub, Volker; Pokrzywa, Wojciech; Laporte, Jocelyn; Foley, A Reghan; Romero, Norma B; Ottenheijm, Coen; Hoppe, Thorsten; Bönnemann, Carsten G.

Am J Hum Genet ; 107(6): 1078-1095, 2020 12 03.

Artigo em Inglês | MEDLINE | ID: mdl-33217308

2.

Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients.

Cuadrado-Vilanova, Maria; Liu, Jing; Paco, Sonia; Aschero, Rosario; Burgueño, Victor; Sirab, Nanor; Pascual-Pasto, Guillem; Correa, Genoveva; Balaguer-Lluna, Leire; Castillo-Ecija, Helena; Perez-Jaume, Sara; Muñoz-Aznar, Oscar; Roldan, Monica; Suñol, Mariona; Schaiquevich, Paula; Aerts, Isabelle; Doz, François; Cassoux, Nathalie; Lubieniecki, Fabiana; Benitez-Ribas, Daniel; Lavarino, Cinzia; Mora, Jaume; Chantada, Guillermo L; Catala-Mora, Jaume; Radvanyi, François; Carcaboso, Angel M.

J Pathol ; 257(3): 327-339, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35254670

3.

The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.

Lubieniecki, Fabiana; Vazquez, Valeria; Lamas, Gabriela S; Camarero, Sandra; Nuñez, Felipe J; Baroni, Lorena; Schüller, Ulrich; Alderete, Daniel.

Childs Nerv Syst ; 39(2): 379-386, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36534132

4.

Medulloblastoma and Down Syndrome: An Extremely Rare Association.

Baroni, Lorena V; Muñoz Cassina, Tamara; Fernández Ponce, Nicolás; Pinto, Natalia; Vázquez, Valeria; Lubieniecki, Fabiana; Alderete, Daniel.

J Pediatr Hematol Oncol ; 44(7): 415-418, 2022 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-35704799

5.

Intracranial germ cells tumour: a single institution experience in Argentina.

Baroni, Lorena V; Oller, Agustina; Freytes, Candela S; Sampor, Claudia V; Pinto, Natalia; Fernandez, Nicolas Ponce; Rugilo, Carlos; Lubieniecki, Fabiana; Zubizarreta, Pedro; Alderete, Daniel.

J Neurooncol ; 152(2): 363-372, 2021 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-33660119

6.

Craniospinal irradiation as part of re-irradiation for children with recurrent medulloblastoma.

Baroni, Lorena V; Freytes, Candela; Fernández Ponce, Nicolás; Oller, Agustina; Pinto, Natalia; Gonzalez, Adriana; Maldonado, Francisco R; Sampor, Claudia; Rugilo, Carlos; Lubieniecki, Fabiana; Alderete, Daniel.

J Neurooncol ; 155(1): 53-61, 2021 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-34505229

7.

Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review.

Ruiz Johnson, Agustín; Jaimovich, Sebastián G; Reusmann, Aixa; Álvarez, Mariana; Lubieniecki, Fabiana J; Mantese, Beatriz E.

Childs Nerv Syst ; 37(3): 989-993, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-32514761

8.

Treatment response of CNS high-grade neuroepithelial tumors with MN1 alteration.

Baroni, Lorena V; Rugilo, Carlos; Lubieniecki, Fabiana; Sampor, Claudia; Freytes, Candela; Nobre, Liana; Hansford, Jordan R; Malalasekera, Vajiranee S; Zapotocky, Michal; Dodgshun, Andrew; Martinez, Ofelia Cruz; La Madrid, Andres Morales; Lavarino, Cinzia; Suñol, Mariona; Rutkowski, Stefan; Schuller, Ulrich; Bouffet, Eric; Ramaswamy, Vijay; Alderete, Daniel.

Pediatr Blood Cancer ; 67(12): e28627, 2020 12.

Artigo em Inglês | MEDLINE | ID: mdl-32959992

9.

Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA.

Mayorga, Lía; Salassa, Betiana N; Marzese, Diego M; Loos, Mariana A; Eiroa, Hernán D; Lubieniecki, Fabiana; García Samartino, Clara; Romano, Patricia S; Roqué, María.

Cell Mol Life Sci ; 76(7): 1397-1417, 2019 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-30673822

10.

Melanotic neuroectodermal tumor of infancy arising from the skull: report of an unusual case, review of the literature, and a diagnostic approach.

Mengide, Juan Pablo; Jaimovich, Sebastián G; Lubieniecki, Fabiana J; Rugilo, Carlos; Lamas, Gabriela; Mantese, Beatriz.

Childs Nerv Syst ; 36(3): 469-475, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31897638

11.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Pinto, Miguel M; Monges, Soledad; Malfatti, Edoardo; Lubieniecki, Fabiana; Lornage, Xavière; Alias, Laura; Labasse, Clémence; Madelaine, Angéline; Fardeau, Michel; Laporte, Jocelyn; Tizzano, Eduardo F; Romero, Norma B.

Muscle Nerve ; 59(1): 137-141, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30025162

12.

Minimally disseminated disease and outcome in overt orbital retinoblastoma.

Aschero, Rosario; Torbidoni, Ana; Sampor, Claudia; Laurent, Viviana; Zugbi, Santiago; Winter, Ursula; Lubieniecki, Fabiana; Alonso, Daniel; Schaiquevich, Paula; Chantada, Guillermo L.

Pediatr Blood Cancer ; 66(6): e27662, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30803140

13.

[Argentine consensus on late-onset Pompe's disease]. / Consenso argentino sobre enfermedad de Pompe de inicio tardío.

Dubrovsky, Alberto; Fulgenzi, Ernesto; De Vito, Eduardo L; Barroso, Fabio; Berardo, Andrés; Bettini, Mariela; Binaghi, Daniela; Calabrese, Esteban; Carlés, Daniel; Chaves, Marcelo; Chloca, Fernando; Conti, Eugenia; Corderi, José; Di Gennaro, Federico; Ferradás, Nélida; Jáuregui, Agustín; Lubieniecki, Fabiana; Mazia, Claudio; Medina, Marta; Pirra, Laura; Politei, Juan; Reisin, Ricardo; Rosa, Alberto L; Rugiero, Marcelo; Salutto, Valeria; Schenone, Andrea; Sussini, Mario; Taratuto, Ana L.

Medicina (B Aires) ; 78 Suppl 1: 1-23, 2018.

Artigo em Espanhol | MEDLINE | ID: mdl-30179846

14.

Second Neoplasms in Children Following a Treatment for Acute Leukemia and/or Lymphoma: 29 Years of Experience in a Single Institution in Argentina.

Felice, María S; Rossi, Jorge G; Alonso, Cristina N; Rubio, Patricia; Gallego, Marta S; Galluzzo, María L; Lubieniecki, Fabiana; Gutiérrez, Gladys; Guitter, Myriam R; Alderete, Daniel H; Rose, Adriana B; Cacciavillano, Walter D; Herzovich, Viviana; Alfaro, Elizabeth M; Sánchez La Rosa, Cristian G; Millán, Natalia; Chantada, Guillermo L; Figueroa Turienzo, Carlos M; Zubizarreta, Pedro A.

J Pediatr Hematol Oncol ; 39(8): e406-e412, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28945661

15.

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

Coccé, Mariela C; Mardin, Balca R; Bens, Susanne; Stütz, Adrian M; Lubieniecki, Fabiana; Vater, Inga; Korbel, Jan O; Siebert, Reiner; Alonso, Cristina N; Gallego, Marta S.

Genes Chromosomes Cancer ; 55(9): 677-87, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27121553

16.

Type II focal cortical dysplasia: electroclinical study and surgical outcome in 31 pediatric patients.

Noli, Daniel; Bartuluchi, Marcelo; González, Federico Sanchez; Kaltenmeier, María Carolina; Cersosimo, Ricardo; Rugilo, Carlos; Princich, Juan P; Lubieniecki, Fabiana; Pomata, Hugo; Caraballo, Roberto.

Childs Nerv Syst ; 29(11): 2079-87, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-23832072

17.

EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping.

Gómez-González, Soledad; Llano, Joshua; Garcia, Marta; Garrido-Garcia, Alicia; Suñol, Mariona; Lemos, Isadora; Perez-Jaume, Sara; Salvador, Noelia; Gene-Olaciregui, Nagore; Galán, Raquel Arnau; Santa-María, Vicente; Perez-Somarriba, Marta; Castañeda, Alicia; Hinojosa, José; Winter, Ursula; Moreira, Francisco Barbosa; Lubieniecki, Fabiana; Vazquez, Valeria; Mora, Jaume; Cruz, Ofelia; La Madrid, Andrés Morales; Perera, Alexandre; Lavarino, Cinzia.

iScience ; 26(9): 107598, 2023 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-37664618

18.

Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.

Zugbi, Santiago; Aschero, Rosario; Ganiewich, Daiana; Cancela, María B; Winter, Ursula; Ottaviani, Daniela; Sampor, Claudia; Dinardi, Milagros; Torbidoni, Ana V; Mena, Marcela; Balaguer-Lluna, Leire; Lamas, Gabriela; Sgroi, Mariana; Lagomarsino, Eduardo; Lubieniecki, Fabiana; Fandiño, Adriana; Radvanyi, François; Abramson, David H; Podhajcer, Osvaldo; Llera, Andrea S; Cafferata, Eduardo G; Chantada, Guillermo; Carcaboso, Angel M; Schaiquevich, Paula.

Invest Ophthalmol Vis Sci ; 64(15): 27, 2023 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-38117242

19.

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Labasse, Clémence; Brochier, Guy; Taratuto, Ana-Lia; Cadot, Bruno; Rendu, John; Monges, Soledad; Biancalana, Valérie; Quijano-Roy, Susana; Bui, Mai Thao; Chanut, Anaïs; Madelaine, Angéline; Lacène, Emmanuelle; Beuvin, Maud; Amthor, Helge; Servais, Laurent; de Feraudy, Yvan; Erro, Marcela; Saccoliti, Maria; Neto, Osorio Abath; Fauré, Julien; Lannes, Béatrice; Laugel, Vincent; Coppens, Sandra; Lubieniecki, Fabiana; Bello, Ana Buj; Laing, Nigel; Evangelista, Teresinha; Laporte, Jocelyn; Böhm, Johann; Romero, Norma B.

Acta Neuropathol Commun ; 10(1): 101, 2022 07 09.

Artigo em Inglês | MEDLINE | ID: mdl-35810298

20.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas, Laura; Richard, Pascale; Quijano-Roy, Susana; Gartioux, Corine; Ledeuil, Céline; Lacène, Emmanuelle; Makri, Samira; Ferreiro, Ana; Maugenre, Svetlana; Topaloglu, Haluk; Haliloglu, Göknur; Pénisson-Besnier, Isabelle; Jeannet, Pierre-Yves; Merlini, Luciano; Navarro, Carmen; Toutain, Annick; Chaigne, Denys; Desguerre, Isabelle; de Die-Smulders, Christine; Dunand, Murielle; Echenne, Bernard; Eymard, Bruno; Kuntzer, Thierry; Maincent, Kim; Mayer, Michèle; Plessis, Ghislaine; Rivier, François; Roelens, Filip; Stojkovic, Tanya; Taratuto, Ana Lía; Lubieniecki, Fabiana; Monges, Soledad; Tranchant, Christine; Viollet, Louis; Romero, Norma B; Estournet, Brigitte; Guicheney, Pascale; Allamand, Valérie.

Ann Neurol ; 68(4): 511-20, 2010 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-20976770

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