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Iodide Handling Disorders (NIS, TPO, TG, IYD)

Best Practice & Research Clinical Endocrinology & Metabolism, 2017-03, Vol.31 (2), p.195-212

2017

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Probing the mechanism for hydrogel-based stasis induction in human pluripotent stem cells: is the chemical functionality of the hydrogel important?

Chemical science (Cambridge), 2020, Vol.11 (1), p.232-24

2020

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Brain sparing effect in growth‐restricted fetuses is associated with decreased cardiac acceleration and deceleration capacities: a case–control study

BJOG : an international journal of obstetrics and gynaecology, 2016-11, Vol.123 (12), p.1947-1954

2016

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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, 2021-02, Vol.522, p.111124, Article 111124

2021

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Automated cortical thickness and skewness feature selection in bipolar disorder using a semi-supervised learning method

Journal of affective disorders, 2019-09, Vol.256, p.416-423

2019

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

Endocrine, 2023-04, Vol.80 (1), p.47-53

2023

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Animal poisoning in Italy: 10 years of epidemiological data from the Poison Control Centre of Milan

Veterinary record, 2012-04, Vol.170 (16), p.415-415

2012

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Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

Molecular and cellular endocrinology, 2010-06, Vol.322 (1), p.44-55

2010

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Glyphosate-surfactant herbicide poisoning in domestic animals: an epidemiological survey

Veterinary record, 2015-04, Vol.176 (16), p.413-413

2015

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Quantification of ventricular repolarization heterogeneity during moxifloxacin or sotalol administration using [Formula: see text]-index

Physiological measurement, 2015-04, Vol.36 (4), p.803

2015

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Plant poisoning in domestic animals: epidemiological data from an Italian survey (2000–2011)

Veterinary record, 2013-06, Vol.172 (22), p.580-580

2013

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Epidemiological study (2006–2012) on the poisoning of small animals by human and veterinary drugs

Veterinary record, 2014-03, Vol.174 (9), p.222-222

2014

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TENDENCIAS EN EL CONSUMO DE ALIMENTOS EN LAS SOCIEDADES PREHISPÁNICAS DE QUEBRADA DE HUMAHUACA

Chungará, 2021-10, Vol.53 (4), p.595-611

2021

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Thyroglobulin Gene Mutations in Congenital Hypothyroidism

Hormone research in paediatrics, 2011-01, Vol.75 (5), p.311-321

2011

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Differentiation of an auditory neuronal cell line suitable for cell transplantation

The European journal of neuroscience, 2005-07, Vol.22 (2), p.343-353

2005

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Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear

Journal of comparative neurology (1911), 2002-01, Vol.442 (4), p.378-391

2002

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Structure and genetic variants of thyroglobulin: Pathophysiological implications

Molecular and cellular endocrinology, 2021-05, Vol.528, p.111227-111227, Article 111227

2021

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Defects in protein folding in congenital hypothyroidism

Molecular and cellular endocrinology, 2020-02, Vol.501, p.110638-110638, Article 110638

2020

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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 (Baltimore, Md.), 2006-02, Vol.52 (2), p.182-191

2006

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Evaluative Outcomes of Connecticut's Batterer Intervention for High Risk Offenders

Journal of aggression, maltreatment & trauma, 2021-08, Vol.30 (7), p.931-949

2021

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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, 2022-12, Vol.558, p.111748-111748, Article 111748

2022

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

Molecular and cellular endocrinology, 2021-08, Vol.534, p.111359-111359, Article 111359

2021

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

Molecular and cellular endocrinology, 2023-07, Vol.572, p.111948-111948, Article 111948

2023

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A model for mammalian cochlear hair cell differentiation in vitro: effects of retinoic acid on cytoskeletal proteins and potassium conductances

The European journal of neuroscience, 2007-02, Vol.25 (4), p.957-973

2007

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

The journal of clinical endocrinology and metabolism, 2003-08, Vol.88 (8), p.3546-3553

2003

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Iodide Handling Disorders (NIS, TPO, TG, IYD)

Probing the mechanism for hydrogel-based stasis induction in human pluripotent stem cells: is the chemical functionality of the hydrogel important?

Brain sparing effect in growth‐restricted fetuses is associated with decreased cardiac acceleration and deceleration capacities: a case–control study

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

Automated cortical thickness and skewness feature selection in bipolar disorder using a semi-supervised learning method

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

Animal poisoning in Italy: 10 years of epidemiological data from the Poison Control Centre of Milan

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

Glyphosate-surfactant herbicide poisoning in domestic animals: an epidemiological survey

Quantification of ventricular repolarization heterogeneity during moxifloxacin or sotalol administration using [Formula: see text]-index

Plant poisoning in domestic animals: epidemiological data from an Italian survey (2000–2011)

Epidemiological study (2006–2012) on the poisoning of small animals by human and veterinary drugs

TENDENCIAS EN EL CONSUMO DE ALIMENTOS EN LAS SOCIEDADES PREHISPÁNICAS DE QUEBRADA DE HUMAHUACA

Thyroglobulin Gene Mutations in Congenital Hypothyroidism

Differentiation of an auditory neuronal cell line suitable for cell transplantation

Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear

Structure and genetic variants of thyroglobulin: Pathophysiological implications

Defects in protein folding in congenital hypothyroidism

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

Evaluative Outcomes of Connecticut's Batterer Intervention for High Risk Offenders

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

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

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

A model for mammalian cochlear hair cell differentiation in vitro: effects of retinoic acid on cytoskeletal proteins and potassium conductances

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

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