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

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

Source: iScience, Vol 26, Iss 9, Pp 107598- (2023)

Subject Terms: Health technology, Cancer, Machine learning, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004223016759; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/6a593a031c664204af8d3cdeba8c0d92

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

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

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)

Subject Terms: ACTA1, Congenital myopathy, Nemaline rods, Intranuclear rods, Cytoplasmic bodies, Nuclear envelope, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/aa0b0640d52441babc07367bace6ddce

Closing the gap: National Argentinian discussion forum on paediatric brain tumours

Authors: Lorena V. Baroni, Nicolas Fernández Ponce, Candela Freytes, Francisco R. Maldonado, Natalia Pinto, Javier González Ramos, Fabiana Lubieniecki, Pedro Zubizarreta, Daniel Alderete

Source: Frontiers in Oncology, Vol 13 (2023)

Subject Terms: brain tumour, LMIC (low- and middle-income countries), strategy, outcome, CNS - central nervous system, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1185766/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/f0b853c9aaf14068bbb2e69df8e81e0f

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Authors: Jing Liu, Daniela Ottaviani, Meriem Sefta, Céline Desbrousses, Elodie Chapeaublanc, Rosario Aschero, Nanor Sirab, Fabiana Lubieniecki, Gabriela Lamas, Laurie Tonon, Catherine Dehainault, Clément Hua, Paul Fréneaux, Sacha Reichman, Narjesse Karboul, Anne Biton, Liliana Mirabal-Ortega, Magalie Larcher, Céline Brulard, Sandrine Arrufat, André Nicolas, Nabila Elarouci, Tatiana Popova, Fariba Némati, Didier Decaudin, David Gentien, Sylvain Baulande, Odette Mariani, Florent Dufour, Sylvain Guibert, Céline Vallot, Livia Lumbroso-Le Rouic, Alexandre Matet, Laurence Desjardins, Guillem Pascual-Pasto, Mariona Suñol, Jaume Catala-Mora, Genoveva Correa Llano, Jérôme Couturier, Emmanuel Barillot, Paula Schaiquevich, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Lisa Golmard, Claude Houdayer, Hervé Brisse, Isabelle Bernard-Pierrot, Eric Letouzé, Alain Viari, Simon Saule, Xavier Sastre-Garau, François Doz, Angel M. Carcaboso, Nathalie Cassoux, Celio Pouponnot, Olivier Goureau, Guillermo Chantada, Aurélien de Reyniès, Isabelle Aerts, François Radvanyi

Source: Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/92fda6743ce64715a5b5d4c807ca5ced

The Netrin-1-Neogenin-1 signaling axis controls neuroblastoma cell migration via integrin-β1 and focal adhesion kinase activation

Authors: Andrea A. Villanueva, Pilar Sanchez-Gomez, Ernesto Muñoz-Palma, Sofía Puvogel, Bárbara S. Casas, Cecilia Arriagada, Isaac Peña-Villalobos, Pablo Lois, Manuel Ramírez Orellana, Fabiana Lubieniecki, Fernando Casco Claro, Iván Gallegos, Javier García-Castro, Vicente A. Torres, Verónica Palma

Source: Cell Adhesion & Migration, Vol 15, Iss 1, Pp 58-73 (2021)

Subject Terms: netrin-1, neogenin-1, integrin-β1 activation, fak, cell migration, metastasis, neuroblastoma, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/1933-6918; https://doaj.org/toc/1933-6926

Access URL: https://doaj.org/article/968b885eb8704c3c84ca358077c5182e

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

Authors: Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz

Source: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100733- (2021)

Subject Terms: Mitochondrial diseases, MELAS, Leigh syndrome, Molecular diagnosis, Pediatrics, Mitochondrial DNA, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000276; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6

The Netrin-4/Laminin γ1/Neogenin-1 complex mediates migration in SK-N-SH neuroblastoma cells

Authors: Andrea A. Villanueva, Sofía Puvogel, Pablo Lois, Ernesto Muñoz-Palma, Manuel Ramírez Orellana, Fabiana Lubieniecki, Fernando Casco Claro, Iván Gallegos, Javier García-Castro, Pilar Sanchez-Gomez, Vicente A. Torres, Verónica Palma

Source: Cell Adhesion & Migration, Vol 13, Iss 1, Pp 33-40 (2019)

Subject Terms: neuroblastoma, netrin-4, laminin γ1, neogenin-1, cell migration, cell adhesion, basal lamina, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/1933-6918; https://doaj.org/toc/1933-6926

Access URL: https://doaj.org/article/9c0a6a949a73412491b8d7dedcab8222

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Authors: Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero

Source: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)

Subject Terms: RYR1 recessive, Dusty Core Disease, Central Core Disease, Congenital Myopathy, Centronuclear myopathy, Ryanodine receptor, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0655-5; https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb

Intracranial Gliofibroma: A Case Report and Review of the Literature

Authors: Patricia Gargano, Graciela Zuccaro, Fabiana Lubieniecki

Source: Case Reports in Pathology, Vol 2014 (2014)

Subject Terms: Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6781; https://doaj.org/toc/2090-679X

Access URL: https://doaj.org/article/e43abe76f46c4ac4a73be00730701874

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Authors: Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

Source: PLoS ONE, Vol 8, Iss 3, p e59916 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3607557?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/01f25a8e27ed4e2ab08cfcd4aa96e734

Detection of N-Glycolyl GM3 Ganglioside in Neuroectodermal Tumors by Immunohistochemistry: An Attractive Vaccine Target for Aggressive Pediatric Cancer

Authors: Alejandra M. Scursoni, Laura Galluzzo, Sandra Camarero, Jessica Lopez, Fabiana Lubieniecki, Claudia Sampor, Valeria I. Segatori, Mariano R. Gabri, Daniel F. Alonso, Guillermo Chantada, María Teresa G. de Dávila

Source: Clinical and Developmental Immunology, Vol 2011 (2011)

Subject Terms: Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1740-2522; https://doaj.org/toc/1740-2530

Access URL: https://doaj.org/article/419bb88c1b654ec0941352d0469db38a

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