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Áreas de conocimiento > Ciencias médicas y de la salud > Medicina Básica > Genética Humana

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 281-300 de 311

Artículo Structural alterations in chronic lymphocytic leukemia: cytogenetic and FISH analysis

Travella, Ana Carolina ; Ripollés, Lorena; Aventin, Anna; Rodríguez, Andrea; Bezares, Raimundo F.; Caballín, María Rosa; Slavutsky, Irma Rosa (Wiley, 2013-06)
Artículo Structure and genetic variants of thyroglobulin: Pathophysiological implications

Citterio, Cintia Eliana ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2021-05)
Artículo Surviving your genes-the role of PNPLA3 variation in end-stage liver disease

Pirola, Carlos José ; Sookoian, Silvia Cristina (Wiley Blackwell Publishing, Inc, 2018-10)
Artículo Symptomatic female carriers of Duchenne Muscular Dystrophy (DMD): genetic and clinical characterization

Giliberto, Florencia; Radic, Claudia Pamela ; Luce, Leonela; Ferreiro, Verónica; de Brasi, Carlos Daniel ; Szijan, Irena (Elsevier, 2014-01-15)
Artículo Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Kim, Artem; Le Douce, Jérôme; Diab, Farah; Ferovova, Monika; Dubourg, Christèle; Odent, Sylvie; Dupé, Valérie; David, Véronique; Diambra, Luis Anibal ; Watrin, Erwan; de Tayrac, Marie (Oxford University Press, 2020-07)
Evento Systematic analysis of thyroperoxidase variations in patients with congenital hypothyroidism

Molina, Maricel Fernanda ; Adrover, Ezequiela ; Olcese, María Cecilia; Gomes Pio, Mauricio ; Siffo, Sofía ; Miras, Mirta Beatriz; Chiesa, Ana Elena ; Gonzalez Sarmiento, Rogelio; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Fundación Revista Medicina, 2020)
Artículo TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitors

Cebola, Inês; Rodríguez Seguí, Santiago Andrés ; Cho, Candy H. H.; Bessa, José; Rovira, Meritxell; Luengo, Mario; Chhatriwala, Mariya; Berry, Andrew; Ponsa Cobas, Joan; Maestro, Miguel Angel; Jennings, Rachel E.; Pasquali, Lorenzo; Morán, Ignasi; Castro, Natalia; Hanley, Neil A.; Gomez Skarmeta, Jose Luis; Vallier, Ludovic; Ferrer, Jorge (Nature Publishing Group, 2015-05)
Artículo Telomere protein complexes and their role in lymphoid malignancies

Panero, Julieta ; Dos Santos, Patricia Carolina ; Slavutsky, Irma Rosa (Frontiers in bioscience, 2017-01)
Artículo Telomere shortening associated with increased genomic complexity in chronic lymphocytic leukemia

Dos Santos, Patricia Carolina ; Panero, Julieta ; Palau Nagore, Maria Virginia; Stanganelli, Carmen Graciela; Bezares, Raimundo F.; Slavutsky, Irma Rosa (Springer, 2015-05)
Artículo The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Xi, Zhengrui; Zhang, Ming; Bruni, Amalia C.; Maletta, Raffaele G.; Colao, Rosanna; Fratta, Pietro; Polke, James M.; Sweeny, Mary G.; Mudanohwo, Ese; Nacmias, Benedetta; Sorbi, Sandro; Tartaglia, Maria Carmela; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Galimberti, Daniela; Surace, Ezequiel Ignacio ; McGoldrick, Philip; McKeever, Paul; Moreno, Danielle; Sato, Christine; Liang, Yan; Keith, Julia; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina (Springer, 2015-05)
Artículo The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature

Scheps, Karen ; Varela, Viviana ; Targovnik, Hector Manuel (Taylor & Francis, 2018-11)
Artículo The influence of host genetics on liver microbiome composition in patients with NAFLD

Pirola, Carlos José ; Salatino, Adrián Emanuel ; Quintanilla, María Florencia ; Castaño, Gustavo Osvaldo; Garaycoechea, Martin Enrique; Sookoian, Silvia Cristina (Elsevier, 2022-02)
Artículo The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin.

Rossetti, Liliana Carmen ; Targovnik, Hector Manuel ; Varela, Viviana (Ferrata Storti Foundation, 2004-12)
Artículo The nuclear receptor PXR gene variants are associated with liver injury in nonalcoholic fatty liver disease

Sookoian, Silvia Cristina ; Castaño, Gustavo Osvaldo; Burgueño, Adriana Laura ; Gianotti, Tomas Fernández; Rosselli, Maria Soledad ; Pirola, Carlos José (Lippincott Williams, 2010-01)
Artículo The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation

Pardo, Viviane; Vono Toniolo, Jussara; Rubio, Ileana G. S.; Knobel, Meyer; Possato, Roberta F.; Targovnik, Hector Manuel ; Kopp, Peter; Medeiros Neto, Geraldo (Endocrine Society, 2009-08-01)
Artículo The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Siffo, Sofía ; Gomes Pio, Mauricio ; Bueno Martínez, Elena; Lachlan, Katherine; Walker, Joanna; Weill, Jacques; Gonzalez-sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Springer, 2023-12-22)
Artículo The role of cytoskeleton networks on lipid-mediated delivery of DNA

Coppola, Stefano; Cardarelli, Francesco; Pozzi, Daniela; Estrada, Laura Cecilia ; Digman, Michelle; Gratton, Enrico; Bifone, Angelo; Marianecci, Carlotta; Caracciolo, Giulio (Future Science, 2013-02)
Artículo THEMIS and PTPRK in celiac intestinal mucosa: Coexpression in disease and after in vitro gliadin challenge

Bondar, Constanza María ; Plaza Izurieta, Leticia; Fernandez Jimenez, Nora; Irastorza, Iñaki; Withoff, Sebo; Grupo CEGEC; Wijmenga, Cisca; Chirdo, Fernando Gabriel ; Bilbao, Jose Ramon (Nature Publishing Group, 2014-03)
Artículo Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect

Varela, Viviana ; Rivolta, Carina Marcela ; Esperante, Sebastian ; Gruñeiro Papendieck, Laura; Chiesa, Ana Elena ; Targovnik, Hector Manuel (Oxford University Press, 2006-02)
Capítulo de Libro Thyroglobulin structure, function, and biosynthesis.

Título del libro: Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text

Targovnik, Hector Manuel - Otros responsables: Braverman, Lewis E. Cooper, David S. - (Lippincott Williams, 2012)

Mostrando ítems 281-300 de 311