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Lista de obras de Luca Persani

2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations

artículo científico publicado en 2012

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

artículo científico publicado en 2018

8-Chloro-cyclic AMP and protein kinase A I-selective cyclic AMP analogs inhibit cancer cell growth through different mechanisms

artículo científico publicado en 2011

8-Cl-cAMP and PKA I-selective cAMP analogs effectively inhibit undifferentiated thyroid cancer cell growth.

artículo científico publicado en 2016

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

scientific article published on 28 March 2009

A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

A Rare SPRY4 Gene Mutation Is Associated With Anosmia and Adult-Onset Isolated Hypogonadotropic Hypogonadism

scientific article published on 12 November 2019

A family with complete resistance to thyrotropin-releasing hormone.

artículo científico publicado en 2009

A frequent oligogenic involvement in congenital hypothyroidism.

artículo científico publicado en 2017

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

artículo científico publicado en 2009

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

artículo científico publicado en 2013

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.

artículo científico publicado en 2015

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

scientific article published on 01 October 2018

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism

scientific article published on 01 September 2001

A novel mutation in the bone morphogenetic protein 15 gene causing defective protein secretion is associated with both increased ovulation rate and sterility in Lacaune sheep

artículo científico publicado en 2006

A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).

artículo científico publicado en 2004

A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup

artículo científico publicado en 2012

Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet.

artículo científico publicado en 2010

Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis

scientific article published on 10 April 2008

Activator protein-1 and smad proteins synergistically regulate human follicle-stimulating hormone beta-promoter activity

artículo científico publicado en 2008

Addressing gaps in care of people with conditions affecting sex development and maturation

scientific article published on 12 August 2019

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

artículo científico publicado en 2003

An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma

artículo científico publicado en 2006

An open letter to the primary ovarian insufficiency community

artículo científico publicado en 2014

Are Evidence-Based Guidelines Reflected in Clinical Practice? An Analysis of Prospectively Collected Data of the Italian Thyroid Cancer Observatory

artículo científico publicado en 2017

Autoimmunity and thyroid function in patients with chronic active hepatitis treated with recombinant interferon alpha-2a

artículo científico publicado en 1995

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

scientific article published on May 2009

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism

artículo científico publicado en 2007

Bioactivity and glycosylation of circulating prolactin in various physiological and pathological conditions

artículo científico publicado en 1999

Blood cell mitochondrial DNA content and premature ovarian aging

artículo científico publicado en 2012

Body Composition and Leptin/Ghrelin Levels during Lenvatinib for Thyroid Cancer

artículo científico publicado en 2019

Bone turnover and mineral density in adult thalassemic patients: relationships with growth hormone secretory status and circulating somatomedins.

artículo científico publicado en 2016

Central Hypothyroidism: Pathogenic, Diagnostic, and Therapeutic Challenges

artículo científico publicado en 2012

Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature

artículo científico publicado en 2020

Central hypothyroidism

scientific article published on 01 January 2008

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

artículo científico publicado en 2017

Circadian variations of thyrotropin bioactivity in normal subjects and patients with primary hypothyroidism

scientific article published on 01 September 1995

Circulating levels of growth hormone, insulin-like growth factor-I and prolactin in normal, growth retarded and anencephalic human fetuses

scientific article published on 01 May 1995

Circulating thyrotropin bioactivity in sporadic central hypothyroidism.

artículo científico publicado en 2000

Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism

artículo científico publicado en 2014

Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism

artículo científico publicado en 2014

Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.

artículo científico publicado en 2014

Clinical and Hormonal Outcome After Two Years of Triiodothyroacetic Acid Treatment in a Child with Thyroid Hormone Resistance ⬇️

artículo científico publicado el 1 de octubre de 1997

Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth promoting therapy in peripubertal growth delays: results of a retrospective study among ENDO-ERN centers

scientific article published on 23 September 2020

Combined treatment with PPAR-γ agonists in pancreatic cancer: a glimmer of hope for cancer therapy?

artículo científico

Congenital Hypothyroidism with Gland in situ is More Frequent than Previously Thought

artículo científico publicado en 2012

Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.

artículo científico publicado en 2013

Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

artículo científico publicado en 2020

Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas

artículo científico publicado en 1998

Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

article

Cortisol suppression or peripheral sensitivity and activation are associated with diabetes, hypertension and fragility fractures in postmenopausal eucortisolemic women

scholarly article

Criteria of cure and follow-up of central hyperthyroidism due to thyrotropin-secreting pituitary adenomas

scientific article published on 01 August 1996

Cytogenetic study of pituitary adenomas

scientific article published on 01 October 1997

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients

scientific article published on 01 May 2006

DUOXS defects: Genotype-phenotype correlations.

scientific article published on 20 April 2011

Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

artículo científico publicado en 2023

Defining Nonfunctioning Adrenal Adenomas on the Basis of the Occurrence of Hypocortisolism after Adrenalectomy

artículo científico publicado en 2020

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

Diagnostic and therapeutic challenges of acquired thyrotropic deficiency.

artículo científico

Different responses to chronic somatostatin analogues in patients with central hyperthyroidism

artículo científico publicado en 2005

Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma.

artículo científico publicado en 2012

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

artículo científico publicado en 2017

Disruptions of global and JAGGED1-mediated notch signaling affect thyroid morphogenesis in the zebrafish.

artículo científico publicado en 2012

Effects of human recombinant type I IFNs (IFN-α2b and IFN-β1a) on growth and migration of primary endometrial stromal cells from women with deeply infiltrating endometriosis: A preliminary study

artículo científico publicado en 2018

Efficacy of a novel second-generation somatostatin-dopamine chimera (TBR-065) in human medullary thyroid cancer: a preclinical study

artículo científico publicado en 2020

Elastographic presentation of medullary thyroid carcinoma

artículo científico publicado en 2013

Elastographic presentation of synchronous renal cell carcinoma metastasis to the thyroid gland.

artículo científico publicado en 2013

Elastographic techniques of thyroid gland: current status

artículo científico publicado en 2014

Endocrine models of the zebrafish. Editorial

artículo científico publicado en 2009

Epigenome-wide association study in hepatocellular carcinoma: Identification of stochastic epigenetic mutations through an innovative statistical approach.

artículo científico publicado en 2017

Erratum to: PI3K/Akt/mTOR signaling in medullary thyroid cancer: a promising molecular target for cancer therapy.

artículo científico publicado en 2016

Evaluation of genetic predisposition in severe and mild phenotypes of isolated hypogonadotropic hypogonadism

artículo científico publicado en 2018

Evaluation of the adequacy of levothyroxine replacement therapy in patients with central hypothyroidism

scientific article published on 01 March 1999

Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism

scientific article published on 21 January 2019

Expression and biological effects of bone morphogenetic protein-15 in the hen ovary

artículo científico publicado en 2007

Expression of calcium-sensing receptor and characterization of intracellular signaling in human pituitary adenomas

artículo científico publicado en 1999

Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity

artículo científico publicado en 2006

Fishing for neuroendocrine tumors

scientific article published on 01 April 2020

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro

artículo científico publicado en 2010

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.

artículo científico publicado en 2011

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

artículo científico publicado en 2006

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

scientific article published on 20 January 2020

GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks

artículo científico publicado en 2018

GLIS3 and Thyroid: A Pleiotropic Candidate Gene for Congenital Hypothyroidism

article

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

artículo científico publicado en 2013

Genes involved in human premature ovarian failure.

artículo científico publicado en 2010

Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered

artículo científico publicado en 2002

Genetic defects of ovarian TGF-β-like factors and premature ovarian failure ⬇️

artículo científico publicado el 4 de febrero de 2011

Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer

scientific article published on 01 June 2019

Genetics and management of congenital hypothyroidism

artículo científico publicado en 2018

Genetics and phenomics of hypothyroidism due to TSH resistance.

artículo científico publicado en 2010

Genetics of binge-eating disorder (BED): a pilot study

artículo científico publicado en 2018

Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep

artículo científico publicado en 2013

Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

artículo científico publicado en 2002

Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways

artículo científico publicado en 2013

Glis3 as a Critical Regulator of Thyroid Primordium Specification

scientific article published on 27 January 2020

Glycoprotein hormone alpha-subunit in pituitary adenomas

scientific article published on 01 March 1992

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

artículo científico publicado en 2015

Growth hormone-releasing hexapeptide (GHRP-6) increases intracellular calcium concentrations in cultured cells from human pituitary adenomas of different types

scientific article published on 01 September 1998

Highly sensitive serum thyroglobulin and circulating thyroglobulin mRNA evaluations in the management of patients with differentiated thyroid cancer in apparent remission

artículo científico publicado en 2002

How zebrafish research has helped in understanding thyroid diseases

artículo científico publicado en 2017

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

artículo científico publicado en 2004

Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

artículo científico publicado en 2001

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

artículo científico publicado en 2018

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

artículo científico publicado en 2002

Hypothalamic thyrotropin-releasing hormone and thyrotropin biological activity

artículo científico publicado en 1998

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

artículo científico publicado en 2006

Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency

scientific journal article

In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.

artículo científico publicado en 2016

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

artículo científico publicado en 2011

Increased risk for non-autoimmune hypothyroidism in young patients with congenital heart defects.

artículo científico publicado en 2011

Indium-111 pentetreotide single-photon emission tomography in patients with TSH-secreting pituitary adenomas: correlation with the effect of a single administration of octreotide on serum TSH levels

scientific article published on 01 July 1997

Induction of specific phosphodiesterase isoforms by constitutive activation of the cAMP pathway in autonomous thyroid adenomas

artículo científico publicado en 2000

Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.

artículo científico publicado en 2005

Investigating the paradox of hypothyroidism and increased serum thyrotropin (TSH) levels in Sheehan's syndrome: characterization of TSH carbohydrate content and bioactivity

artículo científico publicado en 2001

Isolated follicle-stimulating hormone (FSH) deficiency in a young man with normal virilization who did not have mutations in the FSHbeta gene

artículo científico publicado en 2003

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects

artículo científico publicado en 2016

Knocking-down of the Prokineticin receptor 2 affects reveals its complex role in the regulation of the hypothalamus-pituitary-gonadal axis in the zebrafish model

scientific article published on 06 May 2020

Lack of expression of endometrial prolactin in early implantation failure: a pilot study.

artículo científico publicado en 2004

Lateralization of calcitonin measurements in the wash-out fluid from thyroid fine-needle aspiration: a useful tool for the diagnosis of C-cell-hyperplasia?

artículo científico publicado en 2011

Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

artículo científico publicado en 2001

Long-term safety and efficacy of Omnitrope®, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study.

artículo científico publicado en 2016

Loss of heterozygosity of the MEN1 gene in a large series of TSH-secreting pituitary adenomas

artículo científico publicado en 2001

Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling

artículo científico publicado en 2015

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

artículo científico publicado en 2012

Low-dose Synachten test with measurement of salivary cortisol in adult patients with β-thalassemia major.

artículo científico publicado en 2018

Luteinizing hormone signaling in preovulatory follicles involves early activation of the epidermal growth factor receptor pathway

artículo científico publicado en 2008

MANAGEMENT OF ENDOCRINE DISEASE: Precision medicine in neuroendocrine neoplasms: an update on current management and future perspectives

scientific article published on 01 July 2019

MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly

artículo científico publicado en 2012

Maturation of pituitary-thyroid function in the anencephalic fetus

artículo científico publicado en 1992

Measurement of cAMP accumulation in Chinese hamster ovary cells transfected with the recombinant human TSH receptor (CHO-R): a new bioassay for human thyrotropin.

artículo científico publicado en 1993

Mechanism of action of pituitary adenylate cyclase-activating polypeptide (PACAP) in human nonfunctioning pituitary tumors

scientific article published on 01 September 1995

Medical management of thyrotropin-secreting pituitary adenomas

artículo científico publicado en 2002

Metabolic syndrome induces inflammation and impairs gonadotropin-releasing hormone neurons in the preoptic area of the hypothalamus in rabbits

artículo científico publicado en 2013

Mild TSH resistance: Clinical and hormonal features in childhood and adulthood

artículo científico publicado en 2017

Minimally-invasive treatments for benign thyroid nodules: a Delphi-based consensus statement from the Italian minimally-invasive treatments of the thyroid (MITT) group

scientific article published on 26 March 2019

Mitochondrial phenotype of FOXL2 variants associated with Blepharophimosis, Ptosis and Epicantus Inversus Syndrome (BPES)

artículo científico publicado en 2018

Modern methods to investigate the oligomerization of glycoprotein hormone receptors (TSHR, LHR, FSHR).

artículo científico publicado en 2013

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

artículo científico publicado en 2000

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

artículo científico publicado en 2012

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect

artículo científico publicado en 2003

Mortality in an italian nursing home during COVID-19 pandemic: correlation with gender, age, ADL, vitamin D supplementation, and limitations of the diagnostic tests

artículo científico publicado en 2020

Multicellular spheroids from normal and neoplastic thyroid tissues as a suitable model to test the effects of multikinase inhibitors

artículo científico publicado en 2016

Multicenter study on TGPO autoantibody prevalence in various thyroid and non-thyroid diseases; relationships with thyroglobulin and thyroperoxidase autoantibody parameters

scientific article published on 01 December 1999

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

artículo científico publicado en 2017

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

article

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

artículo científico publicado en 2010

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

scholarly article by Cristina Romei et al published December 2010 in European Journal of Endocrinology

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

artículo científico publicado en 2018

Mutations of LH and FSH receptors.

artículo científico publicado en 2000

Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?

scientific article published on 01 December 2019

New understandings of the genetic basis of isolated idiopathic central hypogonadism.

artículo científico publicado en 2011

Newborn screening for congenital hypothyroidism: the benefit of using differential TSH cutoffs in a two-screen program

artículo científico publicado en 2020

Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome

artículo científico publicado en 2014

Novel mechanisms and genes involved in the pathogenesis of primary ovarian insufficiency (POI) by whole-exome sequencing approach

artículo científico publicado en 2018

OR06-5 Genetic Origin Of Classic And Milder Adult-onset Forms Of Isolated Hypogonadotropic Hypogonadism.

artículo científico publicado en 2019

Off-label pasireotide treatment in one insulinoma patient with an atypical presentation and intolerant to diazoxide

artículo científico publicado en 2020

Oxytocin-induced cell growth proliferation in human myometrial cells and leiomyomas

artículo científico publicado en 2010

PI3K/Akt/mTOR signaling in medullary thyroid cancer: a promising molecular target for cancer therapy

artículo científico

Patient-derived xenograft in zebrafish embryos: a new platform for translational research in neuroendocrine tumors.

artículo científico publicado en 2016

Patterns of gastrin secretion in patients with nonfunctioning pituitary adenomas ⬇️

artículo científico publicado el 1 de noviembre de 1991

Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action.

artículo científico publicado en 2016

Persistent cAMP-signals triggered by internalized G-protein-coupled receptors

artículo científico publicado en 2009

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings

artículo científico publicado en 2005

Phenotypical and Pharmacological Characterization of Stem-Like Cells in Human Pituitary Adenomas.

artículo científico publicado en 2016

Pituitary tumours: TSH-secreting adenomas.

artículo científico publicado en 2009

Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human

artículo científico publicado en 2013

Preclinical and Clinical Evidence for a Distinct Regulation of Mu Opioid and Type 1 Cannabinoid Receptor Genes Expression in Obesity

artículo científico publicado en 2019

Premature ovarian failure

artículo científico publicado en 2006

Prenatal diagnosis of thyroid hormone resistance.

artículo científico publicado en 1999

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity

scientific article published on 05 April 2009

Procoagulant imbalance in Klinefelter syndrome assessed by thrombin generation assay and whole blood thromboelastometry

scientific article published on 31 December 2020

Prolactin and proinflammatory cytokine expression at the fetomaternal interface in first trimester miscarriage.

artículo científico publicado en 2013

Pubertal Delay. The challenge of a timely differential diagnosis between Congenital Hypogonadotropic Hypogonadism (CHH) and Constitutional Delay of Growth and Puberty (CDGP): a narrative review

artículo científico publicado en 2020

Publisher Correction: Prokineticin receptor 2 affects GnRH3 neuron ontogeny but not fertility in zebrafish

artículo científico publicado en 2020

Pulsed intravenous methylprednisolone combined with oral steroids as a treatment for poorly responsive type 2 amiodarone-induced thyrotoxicosis

scientific article published on 01 November 2019

RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series

artículo científico publicado en 2008

Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement

artículo científico publicado en 2003

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas

artículo científico publicado en 2016

Refining calcium test for the diagnosis of medullary thyroid cancer: cutoffs, procedures, and safety

artículo científico publicado en 2014

Regulation of ovulation rate in mammals: contribution of sheep genetic models

artículo científico publicado en 2006

Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH

artículo científico publicado en 1997

Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).

artículo científico publicado en 2017

Rituximab treatment in patients with active Graves' orbitopathy: effects on proinflammatory and humoral immune reactions.

artículo científico publicado en 2010

Role of GPR30 in testicular germ cell tumors: a potential new anticancer target

artículo científico publicado en 2011

Role of NGS in the diagnostic work-up of pituitary tumors and ‘incidental findings’

artículo científico publicado en 2020

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

artículo científico publicado en 2011

SP600125 has a remarkable anticancer potential against undifferentiated thyroid cancer through selective action on ROCK and p53 pathways.

artículo científico publicado en 2015

Safety of medications and hormones used in the treatment of pediatric thyroid disorders

artículo científico publicado en 2004

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

artículo científico publicado en 2018

Selective modulation of protein kinase A I and II reveals distinct roles in thyroid cell gene expression and growth.

artículo científico publicado en 2006

Serum FSH bioactivity and inhibin levels in patients with gonadotropin secreting and nonfunctioning pituitary adenomas

artículo científico publicado en 1998

Serum levels of carboxyterminal cross‐linked telopeptide of type I collagen (ICTP) in the differential diagnosis of the syndromes of inappropriate secretion of TSH ⬇️

artículo científico publicado el 1 de agosto de 1997

Short- and long- term effects of cigarette smoke exposure on glutathione homeostasis in human bronchial epithelial cells

artículo científico publicado en 2013

Short-Term Exposure Effects of the Environmental Endocrine Disruptor Benzo(a)Pyrene on Thyroid Axis Function in Zebrafish

artículo científico publicado en 2022

Signaling by internalized G-protein-coupled receptors.

artículo científico publicado en 2010

Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation

artículo científico publicado en 2002

Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia

artículo científico publicado en 2005

Sortilin is a putative postendocytic receptor of thyroglobulin

artículo científico publicado en 2008

Standardized Ultrasound Report for Thyroid Nodules: The Endocrinologist's Viewpoint

artículo científico publicado en 2013

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

artículo científico publicado en 2022

Structural differences in the hinge region of the glycoprotein hormone receptors: evidence from the sulfated tyrosine residues

artículo científico publicado en 2006

Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis

artículo científico publicado en 2006

Syndromes of thyroid hormone resistance.

artículo científico publicado en 2005

Synergistic activity of everolimus and 5-aza-2'-deoxycytidine in medullary thyroid carcinoma cell lines.

artículo científico publicado en 2017

Systemic nickel allergic syndrome as an immune-mediated disease with an increased risk for thyroid autoimmunity.

artículo científico publicado en 2015

TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.

artículo científico publicado en 2006

TSH-induced hyperthyroidism caused by a pituitary tumor

scientific article published on 01 September 2006

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

artículo científico publicado en 2021

Technology Insight: modern methods to monitor protein-protein interactions reveal functional TSH receptor oligomerization

artículo científico publicado en 2007

The BRAF-inhibitor PLX4720 inhibits CXCL8 secretion in BRAFV600E mutated and normal thyroid cells: a further anti-cancer effect of BRAF-inhibitors

artículo científico publicado en 2019

The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience

artículo científico publicado en 2020

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

scientific article published on 25 November 2020

The IGSF1 deficiency syndrome: characteristics of male and female patients

artículo científico publicado en 2013

The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

artículo científico publicado en 2020

The cAMP analogs have potent anti-proliferative effects on medullary thyroid cancer cell lines.

artículo científico publicado en 2015

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

artículo científico publicado en 2013

The diagnosis and management of central hypothyroidism in 2018

artículo científico publicado en 2019

The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents

artículo científico publicado en 2005

The extracellular matrix actively influence thyroid cancer cells sensitivity to TKIS

artículo científico publicado en 2022

The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders.

artículo científico publicado en 2014

The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies

artículo científico publicado en 2015

The multiple genetic causes of central hypothyroidism.

artículo científico publicado en 2017

The natural history of the hyperthyrotropinemia of children born prematurely

scientific article published on 27 May 2011

The unusual adequate development of a child with severe central hypothyroidsm negative at neonatal thyrotropin screening

artículo científico publicado en 2013

Thyroid Cancer Stem-Like Cells: From Microenvironmental Niches to Therapeutic Strategies

scientific article published in 2021

Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back

artículo científico publicado en 2019

Thyroid gland development and function in the zebrafish model.

scientific article published on 28 May 2009

Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome

artículo científico publicado en 1999

Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy.

artículo científico publicado en 2007

Thyrotropin Alpha- and Beta-Subunit Responses to Thyrotropin-Releasing Hormone and Domperidone in Normal Subjects and in Patients with Microprolactinomas ⬇️

artículo científico publicado el 1 de abril de 1991

Thyrotropin with decreased biological activity, a delayed consequence of cranial irradiation for nasopharyngeal carcinoma

artículo científico publicado en 1995

Thyrotropin-Secreting Pituitary Adenomas

artículo científico publicado en 2000

Thyrotropinomas

artículo científico publicado en 2008

Total Iodide Organification Defect: Clinical and Molecular Characterization of an Italian Family

article

Transplacental passage of anti-thyroid auto-antibodies in a pregnant woman with auto-immune thyroid disease

scientific article published on 01 May 1999

Tumor and normal thyroid spheroids: from tissues to zebrafish.

artículo científico publicado en 2017

Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

artículo científico publicado en 1997

Type I interferon-mediated pathway interacts with peroxisome proliferator activated receptor-γ (PPAR-γ): at the cross-road of pancreatic cancer cell proliferation

artículo científico publicado en 2013

Type I interferons: ancient peptides with still under-discovered anti-cancer properties.

artículo científico

Uncertainties in endocrine substitution therapy for central endocrine insufficiencies: hypothyroidism

artículo científico

Unique binding pattern to concanavalin A lectin of glycoprotein hormones alpha-subunit hypersecreted by non-functioning pituitary adenomas

scientific article published on 01 December 1997

Unusual association between a thyrotropin-secreting pituitary adenoma and a papillary thyroid carcinoma

artículo científico publicado en 1998

Variable carbohydrate structures of circulating thyrotropin as studied by lectin affinity chromatography in different clinical conditions

artículo científico publicado en 1993

Wasting syndrome with deep bradycardia as presenting manifestation of long-standing severe male hypogonadotropic hypogonadism: a case series

artículo científico publicado en 2014

X chromosome monosomy: a common mechanism for autoimmune diseases.

artículo científico publicado en 2005

X monosomy in female systemic lupus erythematosus.

artículo científico publicado en 2007

Zebrafish as an innovative model for neuroendocrine tumors

artículo científico publicado en 2014

[Activating mutations of the gonadotrophin receptors]

artículo científico publicado en 1998

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