List of works - Marco Bonomi

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

scientific article published in October 2018

A family with complete resistance to thyrotropin-releasing hormone

scientific article published in February 2009

A frequent oligogenic involvement in congenital hypothyroidism.

scientific article published on 21 April 2017

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

scientific article published on 5 August 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

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

scientific article published on 09 September 2010

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

scientific article

Blood cell mitochondrial DNA content and premature ovarian aging

scientific article

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

scientific article published on 14 June 2020

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

scientific article published on 7 September 2017

Clinical and genetic characterisation of a series of patients with triple A syndrome.

scientific article published on 19 December 2017

Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity

scientific article published on 19 August 2004

Diagnostic and therapeutic challenges of acquired thyrotropic deficiency.

scientific article published on 26 April 2012

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

scientific article published on 21 January 2019

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

scientific article published on 2 November 2011

Generation of a mouse monoclonal TSH receptor antibody with stimulating activity.

scientific article published on December 2002

Genetics and phenomics of hypothyroidism due to TSH resistance.

scientific article published on 18 January 2010

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

scientific article published on 21 March 2020

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature

scientific article published on 21 December 2018

Genetics of primary ovarian insufficiency.

scientific article published on 16 November 2016

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

scientific article published on 25 November 2013

Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity

scientific article

High-Density Lipoprotein Function Is Reduced in Patients Affected by Genetic or Idiopathic Hypogonadism

scientific article published on 01 August 2019

Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH Gene

article

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.

scientific article

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

scientific article published on 01 December 2018

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

scientific article published on 03 February 2016

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

scientific article published on 22 December 2011

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

scientific article

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

scientific article published on 31 May 2017

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

scientific article

Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor.

scientific article published on 27 May 2004

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

scientific article published on 05 December 2011

Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis

scientific article published in October 2006

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity

scientific article published on 05 April 2009

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

scientific article published in September 2010

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

scientific article published on 10 August 2006

Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis

scientific article published on 7 July 2017

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

scientific article published on February 2007

The IGSF1 deficiency syndrome: characteristics of male and female patients

scientific article

The diagnosis and management of central hypothyroidism in 2018

scientific article published on 01 February 2019

The multiple genetic causes of central hypothyroidism.

scientific article

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

scientific article published on 10 May 2013

Triple-A Syndrome (TAS): an in-depth overview on genetic and phenotype heterogeneity

scientific article published on 13 June 2020

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

scientific article

List of works by Marco Bonomi

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

A family with complete resistance to thyrotropin-releasing hormone

A frequent oligogenic involvement in congenital hypothyroidism.

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

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

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

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

Blood cell mitochondrial DNA content and premature ovarian aging

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

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

Clinical and genetic characterisation of a series of patients with triple A syndrome.

Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity

Diagnostic and therapeutic challenges of acquired thyrotropic deficiency.

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

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

Generation of a mouse monoclonal TSH receptor antibody with stimulating activity.

Genetics and phenomics of hypothyroidism due to TSH resistance.

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature

Genetics of primary ovarian insufficiency.

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

Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity

High-Density Lipoprotein Function Is Reduced in Patients Affected by Genetic or Idiopathic Hypogonadism

Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH Gene

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.

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

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

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

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

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

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

Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor.

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

Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity

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

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

Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis

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

The IGSF1 deficiency syndrome: characteristics of male and female patients

The diagnosis and management of central hypothyroidism in 2018

The multiple genetic causes of central hypothyroidism.

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

Triple-A Syndrome (TAS): an in-depth overview on genetic and phenotype heterogeneity

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