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Mostrando ítems 201-220 de 311

Artículo MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene

Luce, Leonela Natalia; Dalamon, Viviana Karina ; Ferrer, Marcela Maria ; Parma, Diana Lidia; Szijan, Irena ; Giliberto, Florencia (Elsevier Science, 2016-06)
Artículo Molecular advances in thyroglobulin disorders

Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Science, 2006-12)
Evento Molecular characterization of thyroglobulin variants identified in patients with goitrous hypothyroidism. Analysis of the splicing mechanism.

Gomes Pio, Mauricio; Molina, Maricel Fernanda ; Siffo, Sofía ; Chiesa, Maria Amalia ; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Fundación Revista Medicina, 2020)
Artículo Molecular diagnosis of dystrophinopathies using a multi-technique analisis algorithm

Luce, Leonela N.; Ottaviani, Daniela; Ferrer, Marcela Maria ; Szijan, Irena ; Cotignola, Javier Hernan ; Giliberto, Florencia (Wiley, 2013-06-26)
Artículo Molecular functions of MCM8 and MCM9 and their associated pathologies

Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina ; Morreau, Hans; van Wezel, Tom; Castellvi Bell, Sergi; Goldberg, Yael; Nielsen, Maartje (Elsevier, 2023-06)
Artículo Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Abelleyro, Miguel Martin ; Radic, Claudia Pamela ; Marchione, Vanina Daniela ; Waisman, Karen; Tetzlaff, Guillermo Tomás; Neme, Daniela; Rossetti, Liliana Carmen ; de Brasi, Carlos Daniel (Wiley-liss, div John Wiley & Sons Inc., 2020-01-04)
Artículo Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; Volpini, Victor; Zabetian, Cyrus P.; Mata, Ignacio F.; Caputo, Mariela ; Corach, Daniel ; Radrizzani Helguera, Martin ; Micheli, Federico Eduardo (Elsevier, 2014-05)
Artículo Mutación fundadora en una familia argentina con cancer colorrectal hereditario

Gomez, Laura Constanza ; Adi, Jose; Ibarra, Jorge; Roque Moreno, Maria (Medicina (Buenos Aires), 2010-01)
Artículo Mutation analysis of patients with neurodegenerative disorders using NeuroX array

Ghani, Mahdi; Lang, Anthony E.; Zinman, Lorne; Nacmias, Benedetta; Sorbi, Sandro; Bessi, Valentina; Tedde, Andrea; Tartaglia, Maria Carmela; Surace, Ezequiel Ignacio ; Sato, Christine; Moreno, Danielle; Xi, Zhengrui; Hung, Rachel; Nalls, Mike A.; Singleton, Andrew; George Hyslop, Peter St.; Savchenko, Ekaterina (Elsevier Science Inc, 2015-01)
Artículo Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

Molina, Maricel Fernanda ; Papendieck, Patricia; Sobrero, Gabriela Maria; Balbi, Viviana A.; Belforte, Fiorella Sabrina ; Martínez, Elena Bueno; Adrover, Ezequiela ; Olcese, María Cecilia; Chiesa, Ana Elena ; Miras, Mirta Beatriz; González, Verónica G.; Gomes Pio, Mauricio ; González Sarmiento, Rogelio; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Springer, 2022-06)
Evento Mutations in Thyroid Hormone Beta Receptor Gene Identified in Children with Clinical Resistance to Thyroid Hormones

Gonzáles, Viviana; Balbi, Viviana A.; Morin, Analía; Reinoso, Andrea; Vitale, Laura; Ricci, Jaime; Espósito, Mariela; Martín, Rodrigo; Tournier, Andrea L.; Adrover, Ezequiela ; Molina, Maricel Fernanda ; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Karger, 2020)
Artículo Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Romero Hidalgo, Sandra; Flores Rivera, José; Rivas Alonso, Verónica; Barquera, Rodrigo; Villarreal Molina, María Teresa; Antuna Puente, Bárbara; Macias Kauffer, Luis Rodrigo; Villalobos Comparán, Marisela; Ortiz Maldonado, Jair; Yu, Neng; Lebedeva, Tatiana V.; Alosco, Sharon M.; García Rodríguez, Juan Daniel; González Torres, Carolina; Rosas Madrigal, Sandra; Ordoñez, Graciela; Guerrero Camacho, Jorge Luis; Treviño Frenk, Irene; Escamilla Tilch, Monica; García Lechuga, Maricela; Tovar Méndez, Víctor Hugo; Pacheco Ubaldo, Hanna; Acuña Alonzo, Victor; Bortolini, María Cátira; Gallo, Carla; Bedoya Berrío, Gabriel; Rothhammer, Francisco; Gonzalez-Jose, Rolando ; Ruiz Linares, Andrés; Canizales Quinteros, Samuel; Yunis, Edmond; Granados, Julio; Corona, Teresa (Nature Research, 2020-12)
Artículo Naturally occurring mutations in the thyroglobulin gene

Vono-Toniolo, Jussara; Rivolta, Carina Marcela ; Targovnik, Hector Manuel ; Medeiros-Neto, Geraldo; Kopp, Peter (Mary Ann Liebert, 2005-09-27)
Artículo Neonatal anthropometry of malformed newborns: A large South American population-based study

Heisecke Peralta, Silvina Lidia ; Alfaro Gómez, Emma Laura ; Martinez, Jorge Ivan ; Figueroa, Marcelo Isidro ; Bronberg, Rubén; Ratowiecki, Julia ; López Camelo, Jorge Santiago ; Dipierri, Jose Edgardo (Wiley Blackwell Publishing, Inc, 2022-02)
Evento New algorythm for the characterization of novel variants in the thyroglobulin gene: integration of in silico tools and expression essays

Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Adrover, Ezequiela ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Fundación Revista Medicina, 2022)
Artículo New chromosome abnormalities and lack of BCL-6 gene rearrangements in Argentinean diffuse large B-cell lymphomas

Cerretini, Roxana; Noriega, Maria Fernanda; Narbaitz, Marina; Slavutsky, Irma Rosa (Wiley Blackwell Publishing, Inc, 2006-04)
Artículo Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases

Maiti, Amit K.; Kim Howard, Xana; Viswanathan, Parvathi; Guillen, Laura Cristina ; Qian, Xiaoxia; Rojas Villarraga, Adriana; Sun, Celi; Cañas, Carlos; Tobón, Gabriel J.; Matsuda, Koichi; Shen, Nan; Cherñavsky, Alejandra Claudia ; Anaya, Juan Manuel; Nath, Swapan K. (Oxford University Press, 2010-03)
Artículo Nonalcoholic fatty liver disease and metabolic syndrome: Shared genetic basis of pathogenesis

Sookoian, Silvia Cristina ; Pirola, Carlos José (John Wiley & Sons Inc, 2016-11)
Artículo Nonalcoholic steatohepatitis pharmacotherapy and predictors of response: dual role of aminotransferases as biosensors of metabolism and biomarkers of histological improvement

Sookoian, Silvia Cristina ; Pirola, Carlos José (AME Publishing Company, 2019-08)
Artículo Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene

Mendive, Fernando M.; Rivolta, Carina Marcela ; González Sarmiento, Rogelio; Medeiros Neto, Geraldo; Targovnik, Hector Manuel (Springer, 2012-12-01)

Mostrando ítems 201-220 de 311