List of works - Alfonso Massimiliano Ferrara

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

scientific article

Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice

scientific article published on May 21, 2013

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.

scientific article

Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels

scientific article published on 12 September 2013

A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.

scientific article

Inherited defects of thyroxine-binding proteins

scientific article

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

scientific article published on July 2010

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype

scientific article published on 19 April 2016

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors

scientific article published on 10 May 2018

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.

scientific article published in July 2007

Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice

scientific article

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency

scientific article

Coexistence ofTHRBandTBGGene Mutations in a Turkish Family

scientific article published on April 30, 2013

Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma

scientific article published on 2 November 2017

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

scientific article published on 25 March 2016

Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis

scientific article published on 08 November 2010

A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.

scientific article

List of works by Alfonso Massimiliano Ferrara

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.

Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels

A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.

Inherited defects of thyroxine-binding proteins

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.

Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency

Coexistence ofTHRBandTBGGene Mutations in a Turkish Family

Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis

A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.