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List of works by Alfonso Massimiliano Ferrara

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

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

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

scientific article

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

scientific article

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

scientific article published on July 2010

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

scientific article published on 25 March 2016

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

scientific article

Inherited defects of thyroxine-binding proteins

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

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

scientific article

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

scientific article

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

scientific article published on 10 May 2018

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

scientific article published on 08 November 2010

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

scientific article published on 2 November 2017

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

scientific article

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