H. Targovnik

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No Evidence of Association of CTLA-4 -318 C/T, 159 C/T, 3′ STR and SUMO4 163 AG Polymorphism with Autoimmune Diabetes

M. Caputo, G. Cerrone, C. Mazza, 2007, Immunological investigations.

Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis

M. Fornasari, G. Parisi, M. A. Hasenahuer, 2020, Human mutation.

Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.

P. Arvan, H. Targovnik, G. Medeiros-Neto, 1996, The Journal of clinical investigation.

Structural organization of the 5' region of the human thyroglobulin gene.

D. Christophe, G. Vassart, H. Targovnik, 1984, European journal of biochemistry.

Structure and genetic variants of thyroglobulin: Pathophysiological implications

Cintia E. Citterio, H. Targovnik, C. Rivolta, 2021, Molecular and Cellular Endocrinology.

Defects in protein folding in congenital hypothyroidism

H. Targovnik, K. Scheps, C. Rivolta, 2019, Molecular and Cellular Endocrinology.

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.

H. Targovnik, S. Esperante, L. Gruñeiro-Papendieck, 2006, Clinical chemistry.

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

H. Targovnik, P. Caron, C. M. Moya, 2003, The Journal of clinical endocrinology and metabolism.

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

H. Targovnik, S. Esperante, L. Gruñeiro-Papendieck, 2003, Human mutation.

Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA)

M. Caputo, G. Cerrone, H. Targovnik, 2005, Autoimmunity.

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

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2012, Endocrine.

Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case–control study

H. Targovnik, O. Bruno, L. Rizzo, 2010, Endocrine.

Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis

R. González-Sarmiento, M. Caputo, H. Targovnik, 2010, Endocrine.

Variable Number of Tandem Repeats of the Insulin Gene Determines Susceptibility to Latent Autoimmune Diabetes in Adults

M. Caputo, G. Cerrone, N. Cédola, 2012, Molecular Diagnosis.

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

R. González-Sarmiento, Cintia E. Citterio, J. Weill, 2017, Molecular and Cellular Endocrinology.

Advances and Perspectives in Genetics of Congenital Thyroid Disorders Associated with Thyroglobulin Gene Mutations

Cintia E. Citterio, H. Targovnik, C. Rivolta, 2016 .

Thyroglobulin Gene Mutations in Congenital Hypothyroidism

Cintia E. Citterio, H. Targovnik, C. Rivolta, 2011, Hormone Research in Paediatrics.

Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

G. Vassart, H. Targovnik, G. Medeiros-Neto, 1998, Thyroid : official journal of the American Thyroid Association.

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

C. Ris-Stalpers, M. Cammenga, H. Targovnik, 1999, The Journal of clinical endocrinology and metabolism.

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

M. Abramowicz, G. Vassart, H. Targovnik, 1992, The Journal of clinical investigation.

Up to date with human thyroglobulin.

C. Ris-Stalpers, H. Targovnik, J. de Vijlder, 2001, The Journal of endocrinology.

Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis

H. Targovnik, M. Pisarev, G. Juvenal, 1990, Journal of endocrinological investigation.

Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.

H. Targovnik, M. Knobel, G. Medeiros-Neto, 1989, The Journal of clinical endocrinology and metabolism.

Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency.

G. Vassart, H. Targovnik, V. Pohl, 1986, The Journal of clinical endocrinology and metabolism.

A novel 1297–1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone

H. Targovnik, C. Ballarino, C. Rivolta, 2012, Molecular Diagnosis.

Proximity of thyroglobulin and c-myc genes on human chromosome 8

F. Ruddle, G. Vassart, P. Barker, 1985, Somatic cell and molecular genetics.

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

H. Targovnik, K. Scheps, C. Rivolta, 2022, Molecular and Cellular Endocrinology.

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

C. Ris-Stalpers, M. Cammenga, H. Targovnik, 1999, The Journal of clinical endocrinology and metabolism.

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

G. Vassart, H. Targovnik, C. M. Moya, 2001, European journal of endocrinology.

Genomic organization of the 5' region of the human thyroglobulin gene.

G. Vassart, H. Targovnik, C. M. Moya, 1999, European journal of endocrinology.

Genomic organization of the 3' region of the human thyroglobulin gene.

G. Vassart, H. Targovnik, C. Rivolta, 2000, Thyroid : official journal of the American Thyroid Association.

Clinical, pathological, and molecular studies of two families with lodide organification defect

H. Targovnik, G. Medeiros-Neto, R. Camargo, 1997 .

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

G. Vassart, T. Ieiri, H. Targovnik, 1991, The Journal of clinical investigation.

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.

H. Targovnik, M. Knobel, G. Medeiros-Neto, 2008, Thyroid : official journal of the American Thyroid Association.

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

R. González-Sarmiento, M. Caputo, H. Targovnik, 2007, Clinical endocrinology.

A Novel Mutation in Exon 5 of the Glucokinase Gene in an Argentinian Family with Maturity Onset Diabetes of the Young

G. Cerrone, H. Targovnik, G. Frechtel, 2003, Molecular Diagnosis.

New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

P. Arvan, J. Cameselle-Teijeiro, C. Álvarez, 2010, The Journal of clinical endocrinology and metabolism.

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

R. González-Sarmiento, H. Targovnik, A. Chiesa, 2022, Endocrine.

An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene.

A. Bacolla, D. Christophe, G. Vassart, 1985, Nucleic acids research.

Molecular advances in thyroglobulin disorders.

H. Targovnik, C. Rivolta, 2006, Clinica chimica acta; international journal of clinical chemistry.

Identification of a new thyroglobulin variant: a guanine-to-adenine transition resulting in the substitution of arginine 2510 by glutamine.

G. Vassart, H. Targovnik, L. Rossetti, 1997, Thyroid : official journal of the American Thyroid Association.

Effects of phenylbutazone on thyroid iodine metabolism in vitro.

H. Targovnik, H. Nièpomniszcze, A. Coleoni, 1980, Acta endocrinologica.

Viability and infectiousness of eggs of Echinococcus granulosus aged under natural conditions of inferior arid climate.

R. Drut, G. Cerrone, H. Targovnik, 2005, Veterinary parasitology.

Growth hormone (GH) treatment reduces peripheral thyroid hormone action in girls with Turner syndrome

H. Targovnik, A. M. Masini-Repiso, M. Miras, 2007, Clinical endocrinology.

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism

G. Vassart, H. Targovnik, G. Medeiros-Neto, 1993 .

Molecular analysis of sex determination in sex-reversed and true hermaphroditism.

J. Kalil, H. Targovnik, C. Bergadá, 1996, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

PCR ANALYSIS OF Y-CHROMOSOME SEQUENCES IN A 45,X MALE PATIENT AND A REVIEW OF THE LITERATURE

H. Targovnik, S. Copelli, G. Castineyra, O. Levalle, S. Aszpis, E. Mormandi, 2000, Archives of andrology.

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

H. Targovnik, S. Esperante, C. Rivolta, 2010, Molecular and Cellular Endocrinology.

Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain

M. Fornasari, G. Parisi, M. A. Hasenahuer, 2018, European journal of haematology.

Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene.

H. Targovnik, C. M. Moya, C. Rivolta, 2003, Thyroid : official journal of the American Thyroid Association.

A simple method for the identification of three major haplotypes of the beta2AR.

M. Caputo, G. Cerrone, H. Targovnik, 2007, Molecular and cellular probes.

The role of thyroglobulin in thyroid hormonogenesis

P. Arvan, Cintia E. Citterio, H. Targovnik, 2019, Nature Reviews Endocrinology.

Defective organification of iodide causing hereditary goitrous hypothyroidism.

H. Targovnik, G. Medeiros-Neto, B. Wajchenberg, 1993, Thyroid : official journal of the American Thyroid Association.

Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids

D. Corach, G. Vassart, H. Targovnik, 1992, Molecular and Cellular Endocrinology.

Iodide handling disorders (NIS, TPO, TG, IYD).

Cintia E. Citterio, H. Targovnik, C. Rivolta, 2017, Best practice & research. Clinical endocrinology & metabolism.

Naturally occurring mutations in the thyroglobulin gene.

P. Kopp, H. Targovnik, G. Medeiros-Neto, 2005, Thyroid : official journal of the American Thyroid Association.

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.

H. Targovnik, G. Medeiros-Neto, C. M. Moya, 2004, The Journal of clinical endocrinology and metabolism.

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.

G. Vassart, H. Targovnik, G. Medeiros-Neto, 1993, Endocrine reviews.

Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression

R. González-Sarmiento, Cintia E. Citterio, H. Targovnik, 2015, Molecular and Cellular Endocrinology.

Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism

H. Targovnik, 2014, Endocrine.

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

R. González-Sarmiento, H. Targovnik, L. Gruñeiro-Papendieck, 2012, Clinical endocrinology.

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

R. González-Sarmiento, Cintia E. Citterio, M. Tauber, 2012, Molecular and Cellular Endocrinology.

Abnormal H2O2 supply in the thyroid of a patient with goiter and iodine organification defect.

H. Targovnik, H. Nièpomniszcze, B. Gluzman, 1987, The Journal of clinical endocrinology and metabolism.

[The thyroid as a model for molecular mechanisms in genetic diseases].

H. Targovnik, S. Esperante, C. M. Moya, 2005, Medicina.

Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2016 .

Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene

R. González-Sarmiento, H. Targovnik, G. Medeiros-Neto, 2012, Molecular Diagnosis.

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

H. Targovnik, K. Scheps, C. Rivolta, 2021, Molecular and Cellular Endocrinology.

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

H. Targovnik, A. Chiesa, C. Rivolta, 2020, Molecular and Cellular Endocrinology.

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

Cintia E. Citterio, H. Targovnik, M. Miras, 2016, Molecular and Cellular Endocrinology.

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

R. González-Sarmiento, Cintia E. Citterio, H. Targovnik, 2015, Molecular and Cellular Endocrinology.

[Severe hemolytic anemia due to hemoglobin Hammersmith].

H. Targovnik, M. Bonduel, N. Noguera, 2009, Archivos argentinos de pediatria.

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.

R. González-Sarmiento, M. Caputo, H. Targovnik, 2007, The Journal of endocrinology.

Molecular genetics of thyroid diseases.

C. Ledent, J. Parma, J. Dumont, 1994, European Journal of Endocrinology.

A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

G. Cerrone, H. Targovnik, G. Medeiros-Neto, 1995, The Journal of clinical endocrinology and metabolism.

Congenital goitre due to "thyroid peroxidase-iodinase defect".

H. Targovnik, H. Nièpomniszcze, A. Coleoni, 1980, Acta endocrinologica.

Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2010, Endocrine.

Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

R. González-Sarmiento, H. Targovnik, L. Gruñeiro-Papendieck, 2007, Clinical endocrinology.

17α-hydroxylase deficiency

H. Targovnik, M. S. Pérez, G. Frechtel, 2012, Molecular Diagnosis.

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature

H. Targovnik, K. Scheps, V. Varela, 2018, Hemoglobin.

Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean Girl

H. Targovnik, M. Bonduel, N. Noguera, 2007 .

Hb Alesha [beta67(E11)Val-->Met, GTG-->ATG] in an Argentinean girl.

H. Targovnik, M. Bonduel, N. Noguera, 2007, Hemoglobin.

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

K. Lachlan, R. González-Sarmiento, Cintia E. Citterio, 2013, Molecular and Cellular Endocrinology.

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

P. Kopp, H. Targovnik, M. Knobel, 2009, The Journal of clinical endocrinology and metabolism.

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 Known p.A109T Mutation in the TTR Gene

H. Targovnik, G. Maccallini, C. Rivolta, 2013, Hormone and Metabolic Research.

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

G. Vassart, H. Targovnik, G. Medeiros-Neto, 1993, The Journal of clinical endocrinology and metabolism.

Control of dendritic cell maturation and function by triiodothyronine

Laura Cervi, G. Rabinovich, J. Ilarregui, 2008, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Structure, expression and regulation of the thyroglobulin gene

J. Parma, A. Bacolla, A. Leriche, 1985, Molecular and Cellular Endocrinology.

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

R. González-Sarmiento, F. Cassorla, H. Targovnik, 2009, Molecular and cellular probes.

Effects of amiodarone on thyroid iodine metabolism in vitro.

H. Targovnik, H. Nièpomniszcze, A. Coleoni, 1977, Acta endocrinologica.

Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.

H. Targovnik, G. Medeiros-Neto, J. Vono, 2001, Thyroid : official journal of the American Thyroid Association.

Genetically engineered horseradish peroxidase for facilitated purification from baculovirus cultures by cation-exchange chromatography.

H. Targovnik, O. Cascone, M. Miranda, 2005, Journal of biotechnology.

Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism

R. González-Sarmiento, Cintia E. Citterio, H. Targovnik, 2013, Molecular and Cellular Endocrinology.

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

R. González-Sarmiento, M. Caputo, H. Targovnik, 2010, Clinical endocrinology.

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

P. Arvan, Cintia E. Citterio, Y. Morishita, 2021, JCI insight.

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

H. Targovnik, K. Scheps, M. Miras, 2023, Molecular and Cellular Endocrinology.

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

K. Lachlan, R. González-Sarmiento, J. Weill, 2022, Endocrine.

Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure

H. Targovnik, M. Knobel, G. Medeiros-Neto, 1989, Journal of endocrinological investigation.

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

M. Baralle, H. Targovnik, S. Esperante, 2008, Clinical endocrinology.

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

R. González-Sarmiento, Cintia E. Citterio, H. Targovnik, 2011, Clinical endocrinology.

[Most frequent beta-thalassemia mutations in the Argentinian population].

H. Targovnik, L. Rossetti, V. Varela, 1996, Sangre.

High-level expression and purification of recombinant horseradish peroxidase isozyme C in SF-9 insect cell culture

H. Targovnik, O. Cascone, M. Miranda, 2005 .

Construction of a mutant library of horseradish peroxidase gene by directed evolution and development of an in situ screening method

María Mercedes Segura, H. Targovnik, O. Cascone, 2003 .

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

H. Targovnik, L. Gruñeiro-Papendieck, A. Chiesa, 2017, Archivos argentinos de pediatria.

Detection of the nucleophosmin gene mutations in acute myelogenous leukemia through RT‐PCR and polyacrylamide gel electrophoresis

F. Lo‐Coco, H. Targovnik, T. Ottone, 2009, European journal of haematology.

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

P. Arvan, Cintia E. Citterio, H. Targovnik, 2020, Molecular and Cellular Endocrinology.

The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin.

H. Targovnik, L. Rossetti, V. Varela, 2004, Haematologica.

Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies.

R. González-Sarmiento, M. Caputo, H. Targovnik, 2008, Molecular and cellular probes.

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

V. Sulmont, H. Targovnik, M. Doco‐Fenzy, 2009, Clinical endocrinology.

Human Mutation

M. Fornasari, H. Targovnik, K. Scheps, 2019 .

Iodide handling disorders (NIS, TPO, TG, IYD).

Cintia E. Citterio, H. Targovnik, C. Rivolta, 2017, Best practice & research. Clinical endocrinology & metabolism.

R. González-Sarmiento, M. Caputo, H. Targovnik, 2010, Clinical endocrinology.

Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene.

H. Targovnik, C. M. Moya, C. Rivolta, 2002, Thyroid : official journal of the American Thyroid Association.