GOMES PIO, MAURICIO; ADROVER, EZEQUIELA; MIRAS, MIRTA B.; SOBRERO, GABRIELA; MOLINA, MARICEL F.; SCHEPS, KAREN G.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2023 vol. 572 p. 111948 - 111948

SIFFO, SOFÍA; GOMES PIO, MAURICIO; BUENO MARTÍNEZ, ELENA; LACHLAN, KATHERINE; WALKER, JOANNA; WEILL, JACQUES; GONZALEZ-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: Oregon; Año: 2022

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 p. 111748 - 111748

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: Oregon; Año: 2022 vol. 77 p. 86 - 101

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 p. 111359 - 111359

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 p. 111227 - 111227

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 p. 111124 - 111124

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

p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

JOURNAL OF MOLECULAR ENDOCRINOLOGY; Lugar: Bristol; Año: 2020 vol. 550

TARGOVNIK, HM; SCHEPS, KAREN; RIVOLTA, CARINA M.

Defects in protein folding in congenital hypothyroidism.

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

SIFFO, SOFÍA; ADROVER, EZEQUIELA; CITTERIO, CINTIA E; MIRAS, MIRTA B.; BALBI, VIVIANA A; CHIESA, ANA; WEILL, JACQUES; SOBRERO, GABRIELA; GONZÁLEZ, VERÓNICA G; PAPENDIECK, PATRICIA; MARTÍNEZ BUENO, ELENA; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA M.; TARGOVNIK, HECTOR M.

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Ireland; Año: 2018 vol. 473 p. 1 - 16

TESTA, GRACIELA; SIGNORINO, M; SOBRERO, GABRIELA; BOYANOVSKY, A; COLLET, I; MUÑOZ, LILIANA; RIVOLTA, CARINA M.; TARGOVNIK , HÉCTOR M.; MIRAS, MIRTA B.

Etiología y evolución de recién nacidos con hipotiroidismo congénito y glándula eutópica

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Lugar: Buenos Aires; Año: 2018 vol. 55 p. 13 - 19

ENACAN, ROSA E.; MASNATA, MARÍA E.; BELFORTE, FIORELLA S.; PAPENDIECK, PATRICIA; OLCESE, MARÍA C.; SIFFO, SOFÍA; GRUÑEIRO-PAPENDIECK, LAURA; TARGOVNIK , HÉCTOR M.; RIVOLTA, CARINA M.; CHIESA, ANA

Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases.

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; Lugar: Amsterdam; Año: 2017

BELFORTE, FIORELLA S.; CITTERIO, CINTIA E.; TESTA, GRACIELA; OLCESE, MARÍA C.; 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: 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 Associated with Thyroglobulin Gene Mutations

Peertechz Journal of Biological Research and Development; Lugar: Hi-tech City; Año: 2016 vol. 1 p. 62 - 70

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; Lugar: Delaware; Año: 2016 vol. 6 p. 1 - 23

BELFORTE, FIORELLA S.; OLCESE, MARÍA C.; SIFFO, SOFÍA; PAPENDIECK, PATRICIA; ENACAN, ROSA E.; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; TARGOVNIK, HÉCTOR MANUEL.; 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: New Jersey; Año: 2016 vol. 2 p. 69 - 78

BELFORTE, FIORELLA S.; TARGOVNIK, ALEXANDRA M.; GONZÁLEZ-LEBRERO, RODOLFO; OSORIO LARROCHE, CAROLINA; CITTERIO, CINTIA E; GONZALEZ-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

CITTERIO, CINTIA E.; MORALES, CECILIA; BOUHOURS-NOUET, NATACHA; MACHIAVELLI, GLORIA A.; BUENO, ELENA; GATELAIS, FREDERIQUE ; 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

SKLATE ROSANA T; OLCESE, MARÍA C.; MACCALLINI GUSTAVO C; GONZÁLEZ-SARMIENTO R; TARGOVNIK , HÉCTOR M.; RIVOLTA, CARINA M.

Novel mutation p.A64D in the serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a know p.A109T mutation in the TTR gene.

HORMONE AND METABOLIC RESEARCH; Año: 2014 vol. 46 p. 100 - 108

CITTERIO CINTIA E; ROSSETTI LILIANA C; SOUCHON PIERRE F; CECILIA MORALES; MATHILDE THOUVARD-VIPREY; ANNE S. SALMON-MUSIAL; PIERRE L.A. MAURAN; MARTINE DOCO-FENZY; ROGELIO GONZÁLEZ-SARMIENTO; CARINA M. RIVOLTA; CARLOS D. DE BRASI; TARGOVNIK, HECTOR M.

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

CITTERIO, CINTIA E. ; MACHIAVELLI, GLORIA A. ; MIRAS, MIRTA B. ; GRUÑEIRO-PAPENDIECK, LAURA ; LACHLAN, KATHERINE ; SOBRERO, GABRIELA ; CHIESA, ANA ; WALKER, JOANNA ; MUÑOZ, LILIANA ; TESTA, GRACIELA ; BELFORTE, FIORELLA S. ; GONZÁLEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA M. ; TARGOVNIK , HÉCTOR MANUEL

New insights into thyroglobulin gene: Molecular analysis of seven novel

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2013 vol. 365 p. 277 - 291

TARGOVNIK, HÉCTOR M. ; EDOUARD, THOMAS ; VARELA, VIVIANA ; MAITHÉ TAUBER; CITTERIO, CINTIA E. ; GONZÁLEZ-SARMIENTO,ROGELIO ; RIVOLTA, CARINA M.

Two novel mutations in the thyroglobulin gene as cause of congenital

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2012 vol. 348 p. 313 - 321

CHIESA, A; OLCESE, M C; PAPENDIECK, PATRICIA ; MARTINEZ, ALICIA ; VIEITES, ANA ; BENGOLEA, SONIA ; TARGOVNIK, HÉCTOR M. ; RIVOLTA, CARINA M.; LAURA GRUNEIRO-PAPENDIECK

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).

ENDOCRINE; Lugar: NeuIsenburg; Año: 2012 p. 130 - 137

BELFORTE, FIORELLA S.; MIRAS, MIRTA B. ; OLCESE, MARÍA C. ; SOBRERO, GABRIELA ; TESTA, GRACIELA ; LILIANA MUÑOZ; GRUÑEIRO-PAPENDIECK, LAURA ; ANA CHIESA; GONZÁLEZ-SARMIENTO, ROGELIO ; TARGOVNIK, HÉCTOR M. ; RIVOLTA, CARINA M.

Congenital goitrous hypothyroidism: mutation analysis in the

CLINICAL ENDOCRINOLOGY; Lugar: Londres; Año: 2012 vol. 76 p. 568 - 576

CITTERIO, CINTIA E; COUTANT , R; ROULEAU, S; MIRALLES GARCÍA, JM; GONZALEZ-SARMIENTO, ROGELIO; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

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: Oxford; Año: 2011 vol. 74 p. 533 - 535

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

Thyroglobulin Gene Mutations in Congenital Hypothyroidism.

Horm Res Paediatr; Lugar: Basel; Año: 2011 vol. 75 p. 311 - 321

VARELA, VIVIANA; RIZZO, LEONARDO; DOMENÉ, SABINA; BRUNO, OSCAR; TELLECHEA, MARIANA; 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: Heidelberg; Año: 2010 vol. 38 p. 320 - 327

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: Amsterdam; Año: 2010 vol. 322 p. 44 - 55

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: Heidelberg; Año: 2010 vol. 38 p. 377 - 385

CAPUTO, MARIELA; RIVOLTA, CARINA MARCELA; MORIES, TERESA; CORRALES, JUAN; GALINDO, PURIFICACIÓN; GONZÁLEZ SARMIENTO, ROGELIO; TARGOVNIK , HÉCTOR MANUEL; MIRALLES GARCÍA, JOSÉ

Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis.

ENDOCRINE; Año: 2010 vol. 37 p. 389 - 395

TARGOVNIK , HÉCTOR MANUEL; SOUCHON, PIERRE F.; MACHIAVELLI, GLORIA; SALMON-MUSIAL, ANNE S.; MAURAN PIERRE LLAA; SULMONT, VERONIQUE ; DOCO-FENZY, MARTINE ; RIVOLTA, CARINA MARCELA

Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.

CLINICAL ENDOCRINOLOGY; Año: 2010 vol. 72 p. 716 - 720

MACHIAVELLI, GLORIA ; CAPUTO, MARIELA; RIVOLTA, CARINA M.; OLCESE, CECILIA; GRUÑEIRO-PAPENDIECK , LAURA; CHIESA, ANA; GONZÁLEZ SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL

Molecular analysis of congenital goitres with hypothyroidism caused 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; Año: 2010 vol. 72 p. 112 - 121

ROJKIND, A; PEZZUTI, D ; VIALE, F; RIVOLTA CARINA M.; OLCESE, CECILIA; TARGOVNIK H; 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

RIVOLTA, CARINA MARCELA; OLCESE, MARÍA CECILIA; BELFORTE, FIORELA SABRINA; CHIESA, ANA; GRUÑEIRO-PAPENDIECK , LAURA; IORCANSKY, SONIA; HERZOVICH, VIVIANA; CASSORLA, FERNANDO; GAUNA, ALICIA; GONZÁLEZ SARMIENTO, ROGELIO; TARGOVNIK , HÉCTOR MANUEL

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: Amsterdam; Año: 2009 vol. 23 p. 148 - 153

ESPERANTE, SEBASTIÁN ANDRÉS; RIVOLTA, CARINA MARCELA; MIRAVALLE, LUCRECIA; HERZOVICH, VIVIANA; IORCANSKY, SONIA; BARALLE, MARCO; TARGOVNIK, HÉCTOR MANUEL

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, USA; Año: 2008 vol. 68 p. 828 - 835

ESPERANTE, SEBASTIÁN ANDRÉS; RIVOLTA, CARINA MARCELA; CAPUTO, MARIELA; GONZÁLEZ-SARMIENTO, ROGELIO; TARGOVNIK, HÉCTOR MANUEL.

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, Holanda; Año: 2008 vol. 22 p. 281 - 286

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, USA; Año: 2007 vol. 67 p. 238 - 246

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

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: Londres, UK; Año: 2007 vol. 195 p. 167 - 177

VIVIANA VARELA; CARINA M. RIVOLTA; SEBASTIÁN A. ESPERANTE; LAURA GRUÑEIRO-PAPENDIECK; ANA CHIESA; HÉCTOR M. TARGOVNIK

Three Mutations (p.Q36H, p.G418fsX482 and g.IV19-2A>C) in the Dual Oxidase 2 (DUOX2) Gene Responsible for Congenital Goiter and Iodide Organification Defect.

CLINICAL CHEMISTRY; Lugar: Washington DC; Año: 2006 vol. 52 p. 182 - 191

CARINA M. RIVOLTA; HÉCTOR M. TARGOVNIK

Molecular Advances in Thyroglobulin Disorders

CLINICA CHIMICA ACTA; Lugar: Amsterdan; Año: 2006 vol. 374 p. 8 - 24

RIVOLTA, CARINA M.; MOYA, CHRISTIAN M.; GUTNISKY, VIVIANA J.; VARELA, VIVIANA; MIRALLES-GARCIA, JOSE M.; GONZALEZ-SARMIENTO, ROGELIO; TARGOVNIK, HECTOR 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, EEUU; Año: 2005 vol. 90 p. 3766 - 3770

MENDIVE, FERNANDO M.; RIVOLTA, CARINA M.; GONZALEZ-SARMIENTO, ROGELIO; MEDEIROS-NETO, GERALDO; TARGOVNIK, HECTOR M.

NONSENSE-ASSOCIATED ALTERNATIVE SPLICING OF THE HUMAN THYROGLOBULIN GENE

MOLECULAR DIAGNOSIS; Lugar: Auckland, New Zealand; Año: 2005 vol. 9 p. 143 - 149

VONO-TONIOLO, JUSSARA; RIVOLTA, CARINA M.; TARGOVNIK, HECTOR M; MEDEIROS-NETO, GERALDO; KOPP, PETER

NATURRALLY OCURRING MUTATIONS IN THE THYROGLOBULIN GENE

THYROID; Lugar: New York, EEUU; Año: 2005 vol. 15 p. 1021 - 1033

RIVOLTA, CARINA M.; MOYA, CHRISTIAN M.; ESPERANTE, SEBASTIAN A.; GUTNISKY VJ; VARELA, VIVIANA; TARGOVNIK, HECTOR M.

LA TIROIDES COMO MODELO DE LOS MECANISMOS MOLECULARES EN ENFERMEDADES GENETICAS.

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires, Argentina; Año: 2005 vol. 65 p. 257 - 267

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

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, USA; Año: 2004 vol. 89 p. 646 - 657

RIVOLTA, CARINA MARCELA; HERZOVICH, VIVIANA; ESPERANTE, SEBASTIÁN; LAZZATI, JUAN; IORCANSKY, SONIA; TARGOVNIK, HÉCTOR.

Identificación de una transición heterocigota 1012C>T (R338W) en el exón 9 del gen del receptor de hormonas tiroideas en una familia con resistencia generalizada a hormonas tiroideas.

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Lugar: Buenos Aires; Año: 2003 vol. 40 p. 165 - 171

RIVOLTA, CARINA MARCELA; FEIJOO, MARÍA CRISTINA; TARGOVNIK , HÉCTOR MANUEL; FUNES, ALBERTO

Identificación de una Transversión Heterocigota 1357C>A (P453T) en el Exón 10 del Gen del Receptor de Hormonas Tiroideas en una Familia con Resistencia a Hormonas Tiroideas.

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Lugar: Buenos Aires; Año: 2003 vol. 40 p. 13 - 22

MOYA, CHRISTIAN; VARELA, VIVIANA; RIVOLTA, CARINA; MENDIVE, FERNANDO; TARGOVNIK, HÉCTOR MANUEL

Identification and Characterization of A Novel Large Insertion/Deletion Polymorphism of 1,464 Base Pair in the Human Thyroglobulin Gene.

THYROID; Lugar: New York; Año: 2003 vol. 13 p. 319 - 323

CARON, PHILIPPE; MOYA, CHRISTIAN; MALET, DAVID; GUTNISKY, VIVIANA; CHABARDES, BERNARD; RIVOLTA, CARINA M. ; TARGOVNIK, HÉCTOR M.

Compound Heterozygous Mutations in the Thyroglobulin Gene (1143delC and 6725G A [R2223H]) Resulting in Fetal Goitrous Hypothyroidism.

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2003 vol. 88 p. 3546 - 3553

RIVOLTA, CARINA; ESPERANTE, SEBASTIÁN; GRUÑEIRO-PAPENDIECK, LAURA; CHIESA, ANA; MOYA, CHRISTIAN; DOMENE, SABINA; VARELA, VIVIANA; TARGOVNIK , HÉCTOR MANUEL

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

HUMAN MUTATION; Lugar: New York; Año: 2003 vol. 22 p. 259 - 260

RIVOLTA, CARINA; MOYA, CHRISTIAN; MENDIVE, FERNANDO; TARGOVNIK, HÉCTOR

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; RIVOLTA, CARINA; MOYA, CHRISTIAN; VASSART, GILBERT

Genomic organization of the human thyroglobulin gene: the complete intron-exon structure.

EUROPEAN JOURNAL OF ENDOCRINOLOGY; Lugar: Woodlands; Año: 2001 vol. 145 p. 485 - 496

TARGOVNIK, HÉCTOR; RIVOLTA, CARINA MARCELA; MENDIVE, FERNANDO; MOYA, CHRISTIAN; VONO JUSSARA; MEDEIROS-NETO G

Congenital Goiter with Hypothyroidism Caused by a 5´ Splice Site Mutation in the Thyroglobulin Gene.

THYROID; Lugar: New York; Año: 2001 vol. 11 p. 685 - 690

MOYA, CHRISTIAN; MENDIVE, FERNANDO; RIVOLTA, CARINA; VASSART, GILBERT; TARGOVNIK, HÉCTOR.

Genomic organization of the 5´ region of the human thyroglobulin gene

EUROPEAN JOURNAL OF ENDOCRINOLOGY; Lugar: Woodlands; Año: 2000 vol. 143 p. 789 - 798

MENDIVE, F; RIVOLTA, CARINA MARCELA; VASSART, GILBERT; TARGOVNIK, HÉCTOR MANUEL

Genomic Organization of the 3´ Region of the Human Thyroglobulin Gene.

THYROID; Lugar: New York; Año: 1999 vol. 9 p. 903 - 912

MACHIAVELLI, GLORIA ; RIVOLTA, CARINA; ARTESE, ROSA; BASSO, ARMANDO; BURDMAN, JOSÉ

Expression of c-myc and c-fos and binding sites for estradiol and progesterone in human pituitary tumors.

NEUROLOGICAL RESEARCH.; Lugar: Wilton; Año: 1998 vol. 20 p. 709 - 712

ROMANO, L; RIVOLTA, CARINA MARCELA; MACHIAVELLI, GLORIA; BURDMAN, JOSÉ

Ultrastructural modifications and changes in the expression of hormonal genes produced by indomethacin in the anterior pituitary gland of the rat.

NEUROLOGICAL RESEARCH.; Lugar: Wilton; Año: 1995 vol. 17 p. 389 - 392