MOLINA, MARICEL F.; PAPENDIECK, PATRICIA; SOBRERO, GABRIELA; BALBI, VIVIANA A.; BELFORTE, FIORELLA S.; MARTÍNEZ, ELENA BUENO; ADROVER, EZEQUIELA; OLCESE, MARÍA C.; CHIESA, ANA; MIRAS, MIRTA B.; GONZÁLEZ, VERÓNICA G.; PIO, MAURICIO GOMES; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR M.; RIVOLTA, CARINA M.

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

Endocrine; Lugar: Berlin; Año: 2022 vol. 77 p. 86 - 101

MOLINA, MARICEL F.; PIO, MAURICIO GOMES; SCHEPS, KAREN G.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; TARGOVNIK, HÉCTOR M.; RIVOLTA, CARINA M.

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2022 vol. 558

SIFFO, SOFIA; GOMES PIO, MAURICIO; MARTÍNEZ, ELENA BUENO; LACHLAN, KATHERINE; WALKER, JOANNA; WEILL, JACQUES; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Endocrine; Lugar: Berlin; Año: 2022

CITTERIO, CINTIA E.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

Structure and genetic variants of thyroglobulin: Pathophysiological implications

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2021 vol. 528

PIO, MAURICIO GOMES; SIFFO, SOFIA; SCHEPS, KAREN G.; MOLINA, MARICEL F.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms: Computational analysis of TG variants

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2021 vol. 534

PIO, MAURICIO GOMES; MOLINA, MARICEL F.; SIFFO, SOFIA; CHIESA, ANA; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

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

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2021 vol. 522

ZHANG, XIAOHAN; KELLOGG, AARON P.; CITTERIO, CINTIA E.; ZHANG, HAO; LARKIN, DENNIS; MORISHITA, YOSHIAKI; TARGOVNIK, HÉCTOR M.; BALBI, VIVIANA A.; ARVAN, PETER

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

JCI Insight; Lugar: Michigan; Año: 2021 vol. 6

SCHEPS, KAREN G.; HASENAHUER, MARCIA A.; PARISI, GUSTAVO; TARGOVNIK , HÉCTOR M.; FORNASARI, MARÍA S.

Curating the gnomAD Database: Report of Novel Variants in the Globin-Coding Genes and Bioinformatics Analysis.

HUMAN MUTATION; Lugar: New Jersey; Año: 2020 vol. 41 p. 81 - 102

TARGOVNIK , HÉCTOR M.; SCHEPS, KAREN G.; RIVOLTA CARINA M.

Defects in Protein Folding in Congenital Hypothyroidism.

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2020 vol. 501 p. 110638 - 110638

CITTERIO, CINTIA E; SIFFO, SOFÍA; MOYA, CHRISTIAN M.; GOMES PÍO, MAURICIO; MOLINA, MARICEL F. ; SCHEPS, KAREN G.; REY, OSVALDO A.; ARVAN, PETER; RIVOLTA, CARINA M.; TARGOVNIK , HÉCTOR M.

p.L571P in the Linker Domain of Rat Thyroglobulin Causes Intracellular Retention.

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2020 vol. 505 p. 110719 - 110719

CITTERIO, CINTIA E.; TARGOVNIK , HÉCTOR M.; ARVAN, PETER

The role of thyroglobulin in thyroid hormonogenesis.

NATURE REVIEWS ENDOCRINOLOGY; Lugar: Londres; Año: 2019 vol. 15 p. 323 - 328

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

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: 2018 vol. 473 p. 1 - 6

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

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; 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