INVESTIGADORES
TARGOVNIK Hector Manuel
artículos
SCHEPS, KAREN G.; VARELA, VIVIANA; TARGOVNIK , HÉCTOR M.
The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature
HEMOGLOBIN; Lugar: Londres; Año: 2018 vol. 42 p. 310 - 314
SCHEPS, KAREN G.; HASENAHUER, MARCIA ANAHÍ; PARISI, GUSTAVO; TARGOVNIK, HÉCTOR M.; GARCÍA, ELIANA; VEBER, ERNESTO SAMUEL; CRISP, RENÉE; ELENA, GRACIELA; VARELA, VIVIANA; FORNASARI, MARÍA SILVINA
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain
EUROPEAN JOURNAL OF HAEMATOLOGY; Año: 2018 vol. 100 p. 529 - 535
ENACAN, ROSA E; MASNATA, MARÍA E; BELFORTE FIORELLA; PAPENDIECK, PATRICIA; OLCESE, MARÍA C.; SIFFO, SOFÍA; GRUÑEIRO-PAPENDIECK, LAURA; TARGOVNIK, HÉCTOR MANUEL; RIVOLTA, CARINA M.; CHIESA, ANA
Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos
ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires; Año: 2017 vol. 115 p. 162 - 165
TARGOVNIK, HÉCTOR M.; CITTERIO, CINTIA E.; RIVOLTA, CARINA M.
Iodide handling disorders (NIS, TPO, TG, IYD)
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM; Año: 2017 vol. 31 p. 195 - 212
SIFFO, SOFIA; ADROVER, EZEQUIELA; CITTERIO, CINTIA E.; MIRAS, MIRTA B.; BALBI, VIVIANA A.; CHIESA, ANA; WEILL, JACQUES; SOBRERO, GABRIELA; GONZÁLEZ, VERÓNICA G.; PAPENDIECK, PATRICIA; MARTINEZ, ELENA BUENO; GONZALEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2017
BELFORTE, FIORELA S.; CITTERIO, CINTIA E.; TESTA, GRACIELA; OLCESE, MARÍA CECILIA; SOBRERO, GABRIELA; MIRAS, MIRTA B.; TARGOVNIK , HÉCTOR M.; RIVOLTA CARINA M.
Compound heterozygous DUOX2 gene mutations (c.2335-G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2016 vol. 419 p. 172 - 184
TARGOVNIK , HÉCTOR M.; CITTERIO, CINTIA E; SIFFO, SOFÍA; RIVOLTA CARINA M
Advances and Perspectives in Genetics of Congenital Thyroid Disorders
JOURNAL OF CLINICAL AND MOLECULAR ENDOCRINOLOGY; Año: 2016 vol. 1 p. 3 - 3
BELFORTE, FIORELA S.; OLCESE, MARÍA CECILIA; SIFFO, SOFÍA; PAPENDIECK, PATRICIA; ENACAN, ROSA ; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; TARGOVNIK , HÉCTOR M.; RIVOLTA, CARINA M.
Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review
ANNALS OF THYROID RESEARCH; Lugar: Nueva Jersey; Año: 2016 vol. 2 p. 69 - 78
TARGOVNIK , HÉCTOR M; CITTERIO, CINTIA E; SIFFO, SOFÍA; RIVOLTA CARINA M
Advances and Perspectives in Genetics of Congenital Thyroid Disorders Associated with Thyroglobulin Gene Mutations
PEERTECHZ JOURNAL OF BIOLOGICAL RESEARCH AND DEVELOPMENT; Año: 2016 vol. 1 p. 62 - 70
CITTERIO, CINTIA E.; MORALES, CECILIA M.; BOUHOURS-NOUET, NATACHA; MACHIAVELLI, GLORIA A.; BUENO, ELENA; GATELAIS FRÉDÉRIQUE; COUTANT REGIS; GONZÁLEZ SARMIENTO, ROGELIO; RIVOLTA CARINA M.; TARGOVNIK, HÉCTOR M.
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.
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2015 vol. 404 p. 102 - 112
BELFORTE, FIORELA S.; CITTERIO, CINTIA E.; TESTA, GRACIELA; OLCESE, MARÍA CECILIA; SOBRERO, GABRIELA; MIRAS, MIRTA B.; TARGOVNIK , HÉCTOR M.; RIVOLTA CARINA M.
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.
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2015
BELFORTE, FIORELA SABINA; TARGOVNIK, ALEXANDRA MARISA; GONZÁLEZ-LEBRERO, RODOLFO M.; OSORIO LARROCHE, CAROLINA ; CITTERIO, CINTIA E.; GONZÁLEZ-SARMIENTO, ROGELIO; MIRANDA, MARÍA V.; TARGOVNIK, HÉCTOR M.; RIVOLTA CARINA M.
Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2015 vol. 404 p. 9 - 15
TARGOVNIK , HÉCTOR MANUEL
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism.
ENDOCRINE; Lugar: Neu Isenburg; Año: 2014 vol. 45 p. 163 - 164
SKLATE, ROSANAT.; OLCESE, MARÍA CECILIA; MACCALLINI, GUSTAVO C; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL; RIVOLTA, CARINA MARCELA
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.
HORMONE AND METABOLIC RESEARCH; Lugar: Stuttgart; Año: 2014 vol. 46 p. 100 - 108
CITTERIO, CINTIA ELIANA; MACHIAVELLE, GLORÍA ANGÉLICA; MIRAS, MIRTA B.; GRUÑEIRO-PAPENDIECK, LAURA; LACHLAN, KATERINE; SOBRERO, GABRIELA; CHIESA, ANA; WALKER, JANE; MUÑOZ, LILIANA; TESTA, GRACIELA; BELFORTE, FIORELA SABINA; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA MARCELA; TARGOVNIK, HÉCTOR MANUEL
New Insights into Thyroglobulin Gene: Molecular Analysis of Seven Novel Mutations Associated with Goiter and Hypothyroidism
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2013 p. 277 - 291
CITTERIO, CINTIA ELIANA; ROSSETTI, LILIANA CARMEN; SOUCHON PIERRE F.; MORALES, CECILIA MARIELA; THOUVARD-VIPREY; SALMON-MUSIAL, ANNE S.; MAURAN PIERRE L.A. ; DOCO-FENZY, MARTINE ; GONZALEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA MARCELA; DE BRASI, CARLOS; TARGOVNIK , HÉCTOR MANUEL
Novel Mutational Mechanism in the Thyroglobulin Gene: Imperfect DNA Inversion as a Cause for Hereditary Hypothyroidism.
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2013 vol. 381 p. 220 - 229
BELFORTE, FIORELA SABINA; MIRAS, MIRTA B.; OLCESE, MARÍA CECILIA; SOBRERO, GABRIELA; TESTA, GRACIELA; MUÑOZ, LILIANA; GRUÑEIRO PAPENDIECK, LAURA; CHIESA, ANA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK , HÉCTOR MANUEL; RIVOLTA, CARINA MARCELA
Congenital Goitrous Hypothyroidism: Mutation Analysis in the Thyroid Peroxidase Gene.
CLINICAL ENDOCRINOLOGY; Lugar: Londres; Año: 2012 vol. 76 p. 568 - 576
CHIESA, ANA; OLCESE, MARÍA CECILIA; PAPENDIECK, PATRICIA; MARTINEZ, ALICIA; VIEITES, ANA; BENGOLEA, SONIA; TARGOVNIK, HÉCTOR MANUEL; RIVOLTA, CARINA MARCELA; GRUÑEIRO-PAPENDIECK, LAURA
Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH)
ENDOCRINE; Lugar: Oregon; Año: 2012 vol. 41 p. 130 - 137
TARGOVNIK HÉCTOR MANUEL; EDOUARD, THOMAS; VARELA, VIVIANA; TAUBER, MAITHÉ; CITTERIO, CINTIA ELIANA; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA MARCELA
Two Novel Mutations in the Thyroglobulin Gene as Cause of Congenital Hypothyroidism. Identification a Cryptic Donor Splice Site in the Exon 19.
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2012 vol. 348 p. 313 - 321
TARGOVNIK , HÉCTOR MANUEL; CITTERIO, CINTIA ELIANA; RIVOLTA, CARINA MARCELA
Thyroglobulin Gene Mutations in Congenital Hypothyroidism
Hormone Research in Pædiatrics; Lugar: Basilea; Año: 2011 vol. 75 p. 311 - 321
CITTERIO, CINTIA ELIANA; COUTANT, REGIS ; ROULEAU, STEPHANIE; MIRALLES-GARCÍA, JOSÉ. MARÍA; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA MARCELA; TARGOVNIK , HÉCTOR MANUEL
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
CLINICAL ENDOCRINOLOGY; Lugar: Malden; Año: 2011 vol. 74 p. 533 - 535
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 , HÉCTOR MANUEL; ARVAN, PETER; LADO-ABEAL, JOAQUÍN
New Insights into Thyroglobulin Pathophysiology Revealed by the Study of a Family with Congenital Goiter
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: Chevy Chase; Año: 2010 vol. 95 p. 3522 - 3526
NEVES, SOLANGE CAIRES ; MEZALIRA, PAOLA ROSSI ; DIAS, VERA M. A. ; CHAGAS, ANTONIO J. ; VIANA, MARIA ; TARGOVNIK , HÉCTOR MANUEL; KNOBEL, MEYER; MEDEIROS-NETO, GERALDO; RUBIO, ILEANA G.S.
Mutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto.
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA; Lugar: São Paulo; Año: 2010 vol. 54 p. 732 - 737
MACHIAVELLI, GLORÍA ANGÉLICA; CAPUTO, MARIELA; RIVOLTA, CARINA M.; OLCESE, MARÍA CECILIA; GRUÑEIRO PAPENDIECK, LAURA; CHIESA, ANA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK , HÉCTOR MANUEL
Molecular analysis of congenital goitres with hypothyroidismcaused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
CLINICAL ENDOCRINOLOGY; Lugar: Malden; Año: 2010 vol. 72 p. 112 - 121
TARGOVNIK , HÉCTOR MANUEL; SOUCHON PIERRE F. ; MACHIAVELLE, GLORÍA ANGÉLICA; SALMON-MUSIAL ANNE S. ; MAURAN PIERRE L.A. ; SULMON VERÓNIQUE; DOCO-FENZY MARTINE ; RIVOLTA, CARINA MARCELA
Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
CLINICAL ENDOCRINOLOGY; Lugar: Malden; Año: 2010 vol. 72 p. 716 - 718
VARELA, VIVIANA; RIZZO, LEONARDO; DOMENÉ, SABINA; BRUNO, OSCAR DOMINGO; TELLECHEA, MARIANA LORENA; RIVOLTA, CARINA MARCELA; TARGOVNIK , HÉCTOR MANUEL
Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case–control study.
ENDOCRINE; Lugar: Neu-Isenburg; Año: 2010 vol. 38 p. 320 - 327
CAPUTO, MARIELA; RIVOLTA, CARINA MARCELA; MORIES, TERESA ; CORRALES, JUAN JOSÉ; GALINDO, PURIFICACIÓN; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK , HÉCTOR MANUEL; MIRALLES-GARCÍA, JOSÉ MARÍA
Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
ENDOCRINE; Lugar: Neu-Isenburg; Año: 2010 vol. 37 p. 389 - 395
CHIESA, ANA; RIVOLTA, CARINA MARCELA; TARGOVNIK , HÉCTOR MANUEL; GRUÑEIRO PAPENDIECK, LAURA
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism
ENDOCRINE; Lugar: Neu-Isenburg; Año: 2010 vol. 38 p. 377 - 385
TARGOVNIK , HÉCTOR MANUEL; ESPERANTE, SEBASTIÁN ANDRÉS; RIVOLTA, CARINA MARCELA
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdan; Año: 2010 vol. 322 p. 44 - 55
PARDO, VIVIANE; VONO-TONIOLO, JUSSARA; RUBIO, ILEANA G.S.; KNOBEL, MEYER; POSSATO, ROBERTA F.; TARGOVNIK, HÉCTOR M.; KOPP, PETER; MEDEIROS-NETO, GERALDO
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York, USA; Año: 2009 vol. 94 p. 2938 - 2944
EBERLE EANDI, SILVIA J.; NOGUERA, NÉLIDA I.; CALVO, KARINA L.; OJEDA, MARÍA; BRAGÓS, IRMA; PRATTI, ARIANNA; MILANI, ANGELA; TARGOVNIK , HÉCTOR M.; SCIUCCATI, GABRIELA; DÍAZ, LILIAN; BONDUEL, MARIANA; FELIU-TORRES, AURORA
Anemia hemolítica grave causada por hemoglobina Hammersmith. Severe hemolytic anemia due to hemoglobin Hammersmith
ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires, Argentina; Año: 2009 vol. 107 p. 347 - 352
RIVOLTA, CARINA M.; OLCESE, MARÍA C.; BELFORTE, FIORELA S.; CHIESA, ANA; GRUÑEIRO-PAPENDIECK, LAURA; IORCANSKY, SONIA; HERZOVICH, VIVIANA; CASSORLA, FERNANDO; GAUNA, ALICIA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK HÉCTOR M.
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene
MOLECULAR AND CELLULAR PROBES; Lugar: Amsterdan, Paises Bajos; Año: 2009 vol. 23 p. 148 - 153
CALVO, KARINA L.; OJEDA, MARA J.; AMMATUNA, EMANUELE; LAVORGNA, SERENA; OTTONE, TIZIANA; TARGOVNIK, HECTOR M.; LO-COCO, FRANCESCO; NOGUERA, NÉLIDA I.
Detection of the nucleophosmin gene mutations in acute myelogenous leukemia through rt-PCR and polyacrylamide gel electrophoresis
EUROPEAN JOURNAL OF HAEMATOLOGY; Lugar: Hoboken, NJ , USA; Año: 2009 vol. 82 p. 69 - 72
ROJKIND, A; PEZZUTTI, D; VIALE, F; RIVOLTA, CARINA M.; OLCESE, MARÍA CECILIA; TARGOVNIK , HÉCTOR MANUEL; GAUNA, ALICIA
Resistencia a Hormonas Tiroideas (RHT). Descripción de una nueva mutación.
REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Lugar: Buenos Aires; Año: 2009 vol. 46 p. 17 - 24
PARDO, VIVIANE; RUBIO, ILEANA G.S.; KNOBEL, MEYER; AGUIAR OLIVEIRA MANOEL H.; SANTOS MARCOS M.; GOMES SIMONE A.; OLIVEIRA CARLA R.P.; TARGOVNIK , HÉCTOR M.; MEDEIROS-NETO, GERALDO
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
THYROID; Lugar: New York; Año: 2008 vol. 18 p. 783 - 786
MASCANFRONI IVÁN; MONTESINOS MARÍA DEL MAR; SUSPERREGUY SEBASTIÁN; CERVI L.; ILARREGUI J.M.; RAMSEYER V.D.; MATRAJT M.; MASINI-REPISO ANA M.; TARGOVNIK HÉCTOR M.; RABINOVICH GABRIEL A.; PELLIZAS CLAUDIA G.
Control of dendritic cell maturation and function by triiodothyronine (T3)
FASEB JOURNAL; Lugar: Danvers, MA, USA; Año: 2008 vol. 22 p. 1032 - 1042
ESPERANTE, SEBASTIÁN A.; RIVOLTA, CARINA M.; CAPUTO, MARIELA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR M.
Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies.
MOLECULAR AND CELLULAR PROBES; Lugar: Amsterdam, Paises Bajos; Año: 2008 vol. 22 p. 281 - 286
ESPERANTE, SEBASTIÁN A.; RIVOLTA, CARINA M.; MIRAVALLE, LUCRECIA; HERZOVICH, VIVIANA; IORCANSKY, SONIA; BARALLE, MARCO; TARGOVNIK, HÉCTOR M.
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.
CLINICAL ENDOCRINOLOGY; Lugar: Malden; Año: 2008 vol. 68 p. 828 - 835
CAPUTO, MARIELA; CERRONE, GLORIA EDITH; MAZZA, CARMEN; CÉDOLA, FEDERICO NORBERTO; TARGOVNIK, HÉCTOR MANUEL; FRECHTEL, GUSTAVO DANIEL
No evidence of association of CTLA-4 -318 C/T, 159 C/T, 3' STR and SUMO4 163 AG polymorphism with autoimmune diabetes.
IMMUNOLOGICAL INVESTIGATIONS; Lugar: Londres; Año: 2007 vol. 36 p. 259 - 270
CERRONE, GLORIA EDITH; PÉREZ, MARIA SILVIA; CAPUTO, MARIELA; TARGOVNIK, HÉCTOR MANUEL; FRECHTEL, GUSTAVO DANIEL
A simple method for the identification of three major haplotypes of the â2AR
MOLECULAR AND CELLULAR PROBES; Lugar: Amsterdam; Año: 2007 vol. 21 p. 222 - 225
SUSPERREGUY, SEBASTIÁN; MIRAS, MIRTA B.; MONTESINOS, MARÍA DEL MAR; MASCANFRONI, IVAN D.; L. MUÑOZ; L. SILVANO; MASINI-REPISO, ANA MARÍA; COLEONI, ALDO HÉCTOR; TARGOVNIK , HÉCTOR MANUEL; PELLIZAS, CLAUDIA GRACIELA
Growth hormone (GH) treatment reduces peripheral thyroid hormone action in girls with Turner syndrome.
CLINICAL ENDOCRINOLOGY; Lugar: Malden ; Año: 2007 vol. 67 p. 629 - 636
EBERLE, SILVIA EANDI; NOGUERA, NÉLIDA INES; SCIUCCATI, GABRIELA; BONDUEL, MARIANA; DÍAZ, LILIAN; STACIUK, RAQUEL; TARGOVNIK, HÉCTOR MANUEL; FELIU-TORRES, AURORA
Hb Alesha [beta67(E11)Val>Met, GTG>ATG] in an argentinean girl
HEMOGLOBIN; Lugar: Londres; Año: 2007 vol. 31 p. 379 - 382
RIVOLTA, CARINA MARCELA; LOUIS-TISSERAND, MARIANA; VARELA, VIVIANA; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL
Two compound heterozygous mutations (c.215delA/c.2422T?NC and c.387delC/c.1159G?NA) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect
CLINICAL ENDOCRINOLOGY; Lugar: Malden; Año: 2007 vol. 67 p. 238 - 246
CAPUTO, MARIELA; RIVOLTA, CARINA MARCELA; GUTNISKY, VIVIANA JUDITH; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; MEDEIROS-NETO, GERALDO; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms
JOURNAL OF ENDOCRINOLOGY; Lugar: Lóndres; Año: 2007 vol. 195 p. 167 - 177
CAPUTO, MARIELA; RIVOLTA, CARINA MARCELA; ESPERANTE, SEBASTÍAN ANDRÉS; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; PELLIZAS, CLAUDIA GRACIELA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
CLINICAL ENDOCRINOLOGY; Lugar: Malden, USA; Año: 2007 vol. 67 p. 351 - 357
VARELA, VIVIANA; RIVOLTA, CARINA MARCELA; ESPERANTE, SEBASTIÁN ANDRÉS; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; TARGOVNIK, HÉCTOR MANUEL
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.
CLINICAL CHEMISTRY; Lugar: Washington DC; Año: 2006 vol. 52 p. 182 - 191
RIVOLTA, CARINA MARCELA; TARGOVNIK, HÉCTOR MANUEL
Molecular advances in thyroglobulin disorders
CLINICA CHIMICA ACTA; Lugar: Amsterdam; Año: 2006 vol. 374 p. 8 - 24
SEGURA, MARÍA DE LAS M.; LEVIN, GUSTAVO; MIRANDA, MARÍA V.; MENDIVE, FERNANDO M.; TARGOVNIK, HÉCTOR M.; CASCONE, OSVALDO
High-Ievel expression and purification of recombinant horseradish peroxidase isozyme e in SF -9 insect cell culture
PROCESS BIOCHEMISTRY; Año: 2005 vol. 40 p. 795 - 800
RIVOLTA, CARINA M.; MOYA, CHRISTIAN M.; ESPERANTE, SEBASTIAN A.; GUTNISKY, VIVIANA J; VARELA, VIVIANA; TARGOVNIK, HÉCTOR M.
La Tiroides como Modelo de Mecanismos Moleculares en Enfermedades Genéticas
MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2005 vol. 65 p. 257 - 267
LEVIN, GUSTAVO; MENDIVE, FERNANDO; TARGOVNIK, HÉCTOR M.; CASCONE, OSVALDO; MIRANDA, MARÍA V.
Genetically engineered horseradish peroxidase for facilitated purification from baculovirus cultures by cation-exchange chromatography
JOURNAL OF BIOTECHNOLOGY; Año: 2005 vol. 118 p. 363 - 369
SÁNCHEZ THEVENET, PAULA; JENSEN, OSCAR; DRUT, RICARDO; CERRONE, GLORIA E.; GRENÓVERO, MARÍA S.; ALVAREZ, HÉCTOR M.; TARGOVNIK, HÉCTOR M.; BASUALDO, JUAN A.
Viability and infectiousness of eggs of Echinococcus granulosus aged under natural conditions of inferior arid climate
VETERINARY PARASITOLOGY; Año: 2005 vol. 133 p. 71 - 77
CAPUTO, MARIELA; CERRONE, GLORIA E.; LOPEZ, ARIEL P.; GONZALEZ, CLAUDIO; MAZZA, CARMEN; CEDOLA, NORBERTO; PUCHULU, FELIX M.; TARGOVNIK, HÉCTOR M.; FRECHTEL, GUSTAVO D.
Genotipificación del Gen HLA DQB1 en Diabetes Autoinmune del Adulto (LADA)
MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2005 vol. 65 p. 235 - 240
CAPUTO, MARIELA; CERRONE, GLORIA EDITH; LÓPEZ, ARIEL PABLO; VILLALBA, ANABEL; KROCHIK, GABRIEL ANDREA; CÉDOLA, FEDERICO NORBERTO; TARGOVNIK, HÉCTOR MANUEL; FRECHTEL, GUSTAVO DANIEL
Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA)
AUTOIMMUNITY; Año: 2005 vol. 38 p. 277 - 281
VONO-TONIOLO, JUSSARA; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.; MEDEIROS-NETO, GERALDO; KOPP, PETER
Naturally Occurring Mutations in the Thyroglobulin Gene
THYROID; Año: 2005 vol. 15 p. 1021 - 1033
MENDIVE, FERNANDO M.; RIVOLTA, CARINA M.; GONZALEZ-SARMIENTO, ROGELIO; MEDEIROS-NETO, GERALDO; TARGOVNIK, HÉCTOR M.
Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene
MOLECULAR DIAGNOSIS; Año: 2005 vol. 9 p. 143 - 149
RIVOLTA, CARINA M.; MOYA, CHRISTIAN M.; GUTNISKY, VIVIANA J.; VARELA, VIVIANA; MIRALLES-GARCÍA, JOSÉ M.; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR M.
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.
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York, USA; Año: 2005 vol. 90 p. 3766 - 3770
PEREZ, MARÍA S.; BENENCIA, HAYDEE; FRECHTEL, GUSTAVO D.; ESTEBAN, EDUARDO O.; GIL, MARÍA CHRISTINA; TARGOVNIK, HÉCTOR M.; MARQUEZ NORMA B.
17alpha-Hydroxylase Deficiency : Biochemical and Molecular Findings in Two Sisters and their Family.
MOLECULAR DIAGNOSIS; Año: 2004 vol. 8 p. 171 - 178
CERRONE, GLORIA EDITH; CAPUTO, MARIELA; LOPEZ, ARIEL PABLO; GONZÁLEZ, CLAUDIO; MASSA, CARMEN; CÉDOLA, NORBERTO; TARGOVNIK, HÉCTOR MANUEL; FRECHTEL, GUSTAVO DANIEL
Variable number of tandem repeats of the insulin gene determines susceptibility to latent autoimmune diabetes in adults.
MOLECULAR DIAGNOSIS; Año: 2004 vol. 8 p. 43 - 49
ROSSETTI, LILIANA C.; TARGOVNIK, HÉCTOR M.; VARELA, VIVIANA
The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin.
HAEMATOLOGICA; Año: 2004 vol. 89 p. 746 - 747
GUTNISKY, VIVIANA J.; MOYA, CHRISTIAN M.; RIVOLTA, CARINA M.; DOMENÉ, SABINA; VARELA, VIVIANA; TONIOLO, JUSSARA V.; MEDEIROS-NETO, GERALDO; TARGOVNIK, HÉCTOR M.
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.
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York; Año: 2004 vol. 89 p. 646 - 657
RIVOLTA, CARINA M.; MALLEA GIL, M. SUSANA; BALLARINO, CAROLINA; RIDRUEJO, M. CAROLINA; MIGUEL, CARLOS M.; GIMENEZ, SILVIA B.; BERNACCHI, SILVIA S.; TARGOVNIK, HÉCTOR M.
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
MOLECULAR DIAGNOSIS; Año: 2004 vol. 8 p. 163 - 169
MOYA, CHRISTIAN M.; VARELA, VIVIANA; RIVOLTA CARINA M.; MENDIVE, FERNANDO M.; TARGOVNIK , HÉCTOR M.
Identification and Characterization of a Novel Large Insertion/Deletion Polymorphism of 1464 Base Pair in the Human Thyroglobulin Gene
THYROID; Lugar: New York; Año: 2003 vol. 13 p. 319 - 323
RIVOLTA, CARINA M.; MOYA, CHRISTIAN M.; MENDIVE, FERNANDO M.; TARGOVNIK , HÉCTOR M.
Genotyping and Characterization of Two Polymorphic Microsatellite Markers Located Within Introns 29 and 30 of the Human Thyroglobulin Gene
THYROID; Lugar: New York; Año: 2002 vol. 12 p. 773 - 779
MENDIVE, FERNANDO MARTÍN; RIVOLTA, CARINA MARCELA; MOYA, CHRISTIAN MARTÍN; VASSART, GILBERT; TARGOVNIK , HÉCTOR MANUEL
Genomic organization of the human thyroglobulin gene: the complete intron/exon structure
EUROPEAN JOURNAL OF ENDOCRINOLOGY; Lugar: Bristol; Año: 2001 vol. 145 p. 485 - 496
TARGOVNIK , HÉCTOR M.; RIVOLTA CARINA M.; MENDIVE, FERNANDO M.; MOYA, CHRISTIAN M.; VONO, JUSSARA; MEDEIROS-NETO, GERALDO
Congenital Goiter with Hypothyroidism Caused by a 59 Splice Site Mutation in the Thyroglobulin Gene
THYROID; Lugar: New York; Año: 2001 vol. 11 p. 685 - 690
MOYA, CHRISTIAN M.; MENDIVE, FERNANDO M.; RIVOLTA CARINA M.; VASSART, GILBERT; TARGOVNIK , HÉCTOR M.
Genomic organization of the 5' region of the human thyroglobulin gene
EUROPEAN JOURNAL OF ENDOCRINOLOGY; Lugar: Bristol; Año: 2000 vol. 143 p. 789 - 798
VAN DE GRAAF, SIMONE A. R.; RIS-STALPERS CARRIE; VEENBOER, GEERTRUDA J. M,; CAMMENGA, MARIANNE ; SANTOS, CECILIA; TARGOVNIK , HÉCTOR M.; DE VIJLDER J. M.; MEDEIROS-NETO, GERALDO
A Premature Stopcodon in Thyroglobulin Messenger RNA Results in Familial Goiter and Moderate Hypothyroidism
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York; Año: 1999 vol. 84 p. 2537 - 2542
MENDIVE, FERNANDO M.; RIVOLTA CARINA M.; VASSART, GILBERT; TARGOVNIK , HÉCTOR M.
Genomic Organization of the 3' Region of the Human Thyroglobulin Gene
THYROID; Lugar: New York; Año: 1999 vol. 9 p. 903 - 912
DI FULVIO, MAURICIO; CHIESA, ANA; BARANZINI, SERGIO E.; GRUÑEIRO PAPENDIECK, LAURA; MASINI-REPISO ANA M.; TARGOVNIK , HÉCTOR M.
A New Point Mutation (M313T) in the Thyroid Hormone Receptor Beta Gene in a Patient with Resistance to Thyroid Hormone
THYROID; Lugar: New York; Año: 1997 vol. 7 p. 43 - 44
MENDIVE, FERNANDO M.; ROSSETTI, LILIANA C.; VASSART, GILBERT; TARGOVNIK , HÉCTOR M.
Identification of a New Thyroglobulin Variant: A Guanine-to-Adenine Transition Resulting in the Substitution of Arginine 2510 by Glutamine
THYROID; Lugar: New York; Año: 1997 vol. 7 p. 587 - 591
TARGOVNIK , HÉCTOR M.; VONO, JUSSARA; BILLERBECK, ANA E. C.; CERRONE, GLORIA E.; VARELA, VIVIANA; MENDIVE, FERNANDO; WAJCHENBERG, BERNARDO LEO; MEDEIROS-NETO, GERALDO
A 138-Nucleotide Deletion in the Thyroglobulin Ribonucleic Acid Messenger in a Congenital Goiter with Defective Thyroglobulin Synthesis
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York; Año: 1995 vol. 80 p. 3356 - 3360
TARGOVNIK , HÉCTOR MANUEL; MEDEIROS-NETO, GERALDO; VARELA, VIVIANA; COCHAUX, PASCALE; WAJCHENBERG, BERNARDO L; VASSART, GILBERT
A Nonsense Mutation Causes Human Hereditary Congenital Goiter with Preferential Production of a 17 1 -Nucleotide-Deleted Thyroglobulin Ribonucleic Acid Messenger
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York; Año: 1993 vol. 77 p. 210 - 215
VASSART, GILBERT; BACOLLA, ALBINO; BROCAS, HUGUETTE; CHRISTOPHE, DANIEL; DE MARTYNOFF, GUY; LERICHE, ANNE; MERCKEN, LUC; PARMA, JASMINE; POHL, VIVIANE; TARGOVNIK , HÉCTOR ; VAN HEUVERSWYN, BRIGITTE
Structure, expression and regulation of the thyroglobulin gene
MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 1985 vol. 40 p. 89 - 97
TARGOVNIK , HÉCTOR MANUEL; POHL, VIVIANE; CHRISTOPHE, DANIEL; CABRER, BARTOLOME; BROCAS, HUGUETTE; VASSART, GILBERT
Structural organization of the 5' region of the human thyroglobulin gene
FEBS JOURNAL; Lugar: Londres; Año: 1984 vol. 141 p. 271 - 277