HECTOR MANUEL TARGOVNIK

Datos académicos

Lugar de trabajo	CONSEJO NACIONAL DE INVESTIGACIONES CIENTIFICAS Y TECNICAS / OFICINA DE COORDINACION ADMINISTRATIVA HOUSSAY / INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO \| UNIVERSIDAD DE BUENOS AIRES / FACULTAD DE FARMACIA Y BIOQUIMICA / DEPARTAMENTO DE MICROBIOLOGIA,INMUNOLOGIA Y BIOTECNOLOG. / INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Título	Doctor en Medicina
Grado	Universitario de posgrado/doctorado
Campo de aplicación	Prestaciones sanitarias-Medicina preventiva
Especialidad	GENETICA MOLECULAR-ENDOCRINOLOGIA MOLECULAR

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo 17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family

Perez, Maria S.; Benencia, Haydee Julieta; Frechtel, Gustavo Daniel; Esteban, Eduardo O.; Gil, Maria Christina; Targovnik, Hector Manuel ; Marquez, Norma B. (Springer, 2012-12)
Artículo A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation

Rivolta, Carina Marcela ; Moya, Christian M.; Gutnisky, Viviana J.; Varela, Viviana ; Miralles García, José M.; Gonzalez Sarmiento, Rogelio; Targovnik, Hector Manuel (Endocrine Society, 2005-06)
Artículo A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Citterio, Cintia Eliana ; Coutant, Regis; Rouleau, Stephanie; Miralles García, José M.; González Sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Wiley Blackwell Publishing, Inc, 2011-04)
Artículo A novel 1297–1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone

Rivolta, Carina Marcela ; Mallea Gil, M. Susana; Ballarino, Carolina; Ridruejo, M. Carolina; Miguel, Carlos M.; Gimenez, Silvia B.; Bernacchi, Silvia S.; Targovnik, Hector Manuel (Springer, 2012-12-01)
Artículo A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis

Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Siffo, Sofía ; Chiesa, Ana Elena ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2021-02)
Artículo Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis

Caputo, Mariela ; Rivolta, Carina Marcela ; Mories, Teresa; Corrales, Juan J.; Galindo, Purificación; González Sarmiento, Rogelio; Targovnik, Hector Manuel ; Miralles-García, José M. (Springer, 2010-06)
Artículo Anemia hemolítica grave causada por hemoglobina Hammersmith

Eberle Eandi, Silvia J.; Noguera, Nelida Ines ; Calvo, Karina Lucrecia ; Ojeda, Mara Jorgelina ; Bragós, Irma Margarita; Pratti, Arianna Flavia; Milani, Angela Cristina; Targovnik, Hector Manuel ; Sciuccati, Gabriela; Díaz, Lilian; Bonduel, Mariana; Feliu Torres, Aurora (Sociedad Argentina de Pediatría, 2009-07)
Artículo Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case–control study

Varela, Viviana ; Rizzo, Leonardo; Domene, Sabina ; Bruno, Oscar Domingo; Tellechea, Mariana Lorena ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Humana Press, 2010-12)
Artículo Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

Belforte, Fiorella Sabrina ; Olcese, María Cecilia; Siffo, Sofía ; Papendieck, Patricia; Enacan, Rosa E.; Gruñeiro-Papendieck, Laura; Chiesa, Ana Elena ; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Austing Publishing Group, 2016-11)
Evento Bioinformatic analyses of KLF1 variants detected in Argentinean population with hemoglobinopathies

Targovnik, Hector Manuel ; Scheps, Karen (Fundación Revista Medicina, 2020)
Artículo Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism: Characterization of complex cryptic splice sites by minigene analysis

Belforte, Fiorella Sabrina ; Citterio, Cintia Eliana ; Testa, Graciela; Olcese, María Cecilia; Sobrero, Gabriela; Miras, Mirta Beatriz; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Elsevier Ireland, 2016-01)
Artículo Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene

Targovnik, Hector Manuel ; Rivolta, Carina Marcela ; Mendive, Fernando M.; Moya, Christian M.; Vono, Jussara; Medeiros Neto, Geraldo (Mary Ann Liebert, 2001-07)
Artículo Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

Belforte, Fiorella Sabrina ; Miras, Mirta Beatriz; Olcese, María Cecilia; Sobrero, Gabriela Maria; Testa, Graciela; Franchioni de Muñoz, Noemi Liliana; Gruñeiro Papendieck, Laura; Chiesa, Ana Elena ; González Sarmiento, Rogelio; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Wiley Blackwell Publishing, Inc, 2012-04)
Artículo Control of dendritic cell maturation and function by triiodothyronine

Mascanfroni, Ivan Darío ; Montesinos, Maria del Mar ; Susperreguy, Sebastian ; Cervi, Laura Alejandra ; Ilarregui, Juan Martin ; Ramseyer, Vanesa D.; Masini Repiso, Ana M.; Targovnik, Hector Manuel ; Rabinovich, Gabriel Adrián ; Pellizas, Claudia Gabriela (Federation of American Societies for Experimental Biology, 2008-04)
Artículo Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis

Scheps, Karen ; Hasenahuer, Marcia Anahí ; Parisi, Gustavo Daniel ; Targovnik, Hector Manuel ; Fornasari, María Elisa (Wiley-liss, Div John Wiley & Sons Inc, 2019-09-25)
Artículo Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

Gomes Pio, Mauricio ; Siffo, Sofía ; Scheps, Karen ; Molina, Maricel Fernanda ; Adrover, Ezequiela ; Abelleyro, Miguel Martin ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2021-08)
Artículo Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA)

Caputo, Mariela ; Cerrone, Gloria Edith; Lopez, Ariel Pablo; Villalba, Anabel; Krochik, Andrea Gabriela; Cédola, Federico Norberto; Targovnik, Hector Manuel ; Frechtel, Gustavo Daniel (Taylor & Francis Ltd, 2005-06)
Artículo Defects in protein folding in congenital hypothyroidism

Targovnik, Hector Manuel ; Scheps, Karen ; Rivolta, Carina Marcela (Elsevier Ireland, 2019-11-18)
Artículo Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect

Rivolta, Carina Marcela ; Esperante, Sebastian ; Gruñeiro Papendieck, Laura; Chiesa, Ana Elena ; Moya, Christian M.; Domene, Sabina ; Varela, Viviana ; Targovnik, Hector Manuel (Veterinary and Human Toxicology, 2003-12)
Artículo Genetically engineered horseradish peroxidase for facilitated purification from baculovirus cultures by cation-exchange chromatography

Levin, Gustavo Javier ; Mendive, Fernando; Targovnik, Hector Manuel ; Cascone, Osvaldo ; Miranda, Maria Victoria (Elsevier Science, 2005-09-10)

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