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

Mostrando ítems 1-18 de 18

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 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 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)
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 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 Genomic organization of the 5′ region of the human thyroglobulin gene

Moya, C. M.; Mendive, F. M.; Rivolta, Carina Marcela ; Vassart, G.; Targovnik, Hector Manuel (BioScientifica, 2000-12)
Artículo Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clinicos

Enacán, Rosa E.; Masnata, María Eugenia; Belforte, Fiorella Sabrina ; Papendieck, Patricia; Olcese, María Cecilia; Siffo, Sofía ; Gruñeiro-Papendieck, Laura; Targovnik, Hector Manuel ; Rivolta, Carina Marcela ; Chiesa, Ana Elena (Sociedad Argentina de Pediatría, 2017-06)
Artículo Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands

Esperante, Sebastian ; Rivolta, Carina Marcela ; Miravalle, Lucrecia; Herzovich, Viviana; Iorcansky, Sonia; Baralle, Marco; Targovnik, Hector Manuel (Wiley Blackwell Publishing, Inc, 2008-05)
Artículo Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism

Targovnik, Hector Manuel (Springer, 2014-03)
Artículo Iodide handling disorders (NIS, TPO, TG, IYD)

Targovnik, Hector Manuel ; Citterio, Cintia Eliana ; Rivolta, Carina Marcela (Elsevier, 2017-03)
Artículo Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression

Belforte, Fiorella Sabrina ; Targovnik, Alexandra Marisa ; Gonzalez-Lebrero, Rodolfo Martin ; Osorio Larroche, Carolina ; Citterio, Cintia Eliana ; González Sarmiento, Rogelio; Miranda, Maria Victoria ; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Elsevier Ireland, 2015-03)
Artículo Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

Siffo, Sofía ; Adrover, Ezequiela ; Citterio, Cintia Eliana ; Miras, Mirta Beatriz; Balbi, Viviana A.; Chiesa, Ana Elena ; Weill, Jacques; Sobrero, Gabriela; González, Verónica G.; Papendieck, Patricia; Bueno Martinez, Elena; González Sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2017-12)
Artículo Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect

Neves, Solange Caires; Mezalira, Paola Rossi; Dias, Vera M. A.; Chagas, Antonio J.; Viana, Maria; Targovnik, Hector Manuel ; Knobel, Meyer; Medeiros Neto, Geraldo; Rubio, Ileana G. S. (Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11)
Artículo New Insights into Thyroglobulin Pathophysiology Revealed by the Study of a Family with Congenital Goiter

Peteiro Gonzalez, D.; Lee, J.; Rodriguez Fontan, J.; Castro Piedras, I.; Cameselle Teijeiro, J.; Beiras, A.; Bravo, S. B.; Alvarez, C. V.; Hardy, D. M.; Targovnik, Hector Manuel ; Arvan, P.; Lado Abeal, Joaquin (Endocrine Society, 2010-07)
Artículo Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6

Citterio, Cintia Eliana ; Morales, Cecilia Mariel ; Bouhours Nouet, Natacha; Machiavelli, Gloria Angelica ; Bueno, Elena; Gatelais, Frédérique; Coutant, Regis; González Sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2015-03)
Artículo Novel Mutation p.A64D in the Serpina 7 Gene as a Cause of Complete Thyroxine-Binding Globulin Deficiency Associated with Increases Affinity in Transthyretin by a Known p.A109T Mutation in the TTR Gene

Sklate, R. T.; Olcese, María Cecilia; Maccallini, G. C.; Sarmiento, R. G.; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Georg Thieme Verlag Kg, 2014-02)
Artículo Two Distinct Compound Heterozygous Constellations (R277X/IVS34-1G〉C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis

Gutnisky, Viviana J.; Moya, Christian M.; Rivolta, Carina Marcela ; Domene, Sabina ; Varela, Viviana ; Toniolo, Jussara V.; Medeiros Neto, Geraldo; Targovnik, Hector Manuel (Endocrine Society, 2004-02)
Artículo Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain

Scheps, Karen ; Hasenahuer, Marcia Anahí ; Parisi, Gustavo Daniel ; Targovnik, Hector Manuel ; García, Eliana; Veber, Ernesto Samuel; Crisp, Renée; Elena, Graciela; Varela, Viviana ; Fornasari, Maria Silvina (Wiley Blackwell Publishing, Inc, 2018-06)

Mostrando ítems 1-18 de 18