BONOMI MARCO

Prevalence on inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH).

ENDOCRINOLOGY ABSTRACTS.

2007

Abstract

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2020

Academic Article

Partially Open Access

45,X/46,X,i(Yp) : Importance of Assessment and Support during Puberty and Adolescence.

SEXUAL DEVELOPMENT.

2019

Academic Article

Reserved Access

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

FRONTIERS IN ENDOCRINOLOGY.

2019

Academic Article

Open Access

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

NATURE REVIEWS. ENDOCRINOLOGY.

2019

Academic Article

Mixed Access

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

JOURNAL OF CLINICAL MEDICINE.

2019

Academic Article

Open Access

GnRH antagonist treatment of malignant adrenocortical tumors.

ENDOCRINE-RELATED CANCER.

2019

Academic Article

Partially Open Access

High density lipoprotein function is reduced in patients affected by genetic or idiopathic hypogonadism.

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2019

Academic Article

Reserved Access

Male and female sexual dysfunction in diabetic subjects: Focus on new antihyperglycemic drugs.

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS.

2019

Academic Article

Mixed Access

Selenium supplementation in the management of thyroid autoimmunity during pregnancy: results of the "SERENA study", a randomized, double-blind, placebo-controlled trial.

ENDOCRINE.

2019

Academic Article

Open Access

The diagnosis and management of central hypothyroidism in 2018.

ENDOCRINE CONNECTIONS.

2019

Academic Article

Open Access

Thyroid function in Klinefelter syndrome: a multi center study from KING group.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2019

Academic Article

Partially Open Access

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

EUROPEAN THYROID JOURNAL.

2018

Academic Article

Reserved Access

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

CLINICAL ENDOCRINOLOGY.

2018

Academic Article

Open Access

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

EUROPEAN JOURNAL OF ENDOCRINOLOGY.

2018

Academic Article

Reserved Access

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

EUROPEAN JOURNAL OF PEDIATRICS.

2018

Academic Article

Reserved Access

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

ANDROLOGY.

2018

Academic Article

Reserved Access

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

ENDOCRINE CONNECTIONS.

2018

Academic Article

Open Access

A Frequent Oligogenic Involvement in Congenital Hypothyroidism.

HUMAN MOLECULAR GENETICS.

2017

Academic Article

Reserved Access

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

ORPHANET JOURNAL OF RARE DISEASES.

2017

Academic Article

Open Access

Genetics of primary ovarian insufficiency.

CLINICAL GENETICS.

2017

Academic Article

Reserved Access

Klinefelter syndrome (KS) : genetics, clinical phenotype and hypogonadism.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2017

Academic Article

Reserved Access

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2017

Academic Article

Reserved Access

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

CLINICAL ENDOCRINOLOGY.

2017

Academic Article

Reserved Access

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

ENDOCRINOLOGY, DIABETES & METABOLISM CASE REPORTS.

2017

Academic Article

Open Access

The multiple genetic causes of central hypothyroidism.

BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM.

2017

Academic Article

Reserved Access

Congenital GnRH deficiency : a complex and genetically heterogeneous disease affecting human fertility and sexual development.

MINERVA ENDOCRINOLOGICA.

2016

Academic Article

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

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2016

Academic Article

Reserved Access

The complex genetic basis of congenital hypogonadotropic hypogonadism.

MINERVA ENDOCRINOLOGICA.

2016

Academic Article

Reserved Access

The zebrafish : an emerging animal model for investigating the hypothalamic regulation of reproduction.

MINERVA ENDOCRINOLOGICA.

2016

Academic Article

Reserved Access

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

HUMAN MOLECULAR GENETICS.

2015

Academic Article

Partially Open Access

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

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2014

Academic Article

Reserved Access

Kallmann’s syndrome and normosmic isolated hypogonadotropic hypogonadism : two largely overlapping manifestations of one rare disorder.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2014

Academic Article

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

BMC ENDOCRINE DISORDERS.

2014

Academic Article

Open Access

THE UNUSUAL ADEQUATE DEVELOPMENT OF A CHILD WITH SEVERE CENTRAL HYPOTHYROIDSM (CeH) NEGATIVE AT NEONATAL TSH SCREENING.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2013

Academic Article

The IGSF1 deficiency syndrome: characteristics of male and female patients.

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2013

Academic Article

Reserved Access

Blood cell mitochondrial DNA content and premature ovarian aging.

PLOS ONE.

2012

Academic Article

Open Access

Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2012

Academic Article

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

JOURNAL OF AUTOIMMUNITY.

2012

Academic Article

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

NATURE GENETICS.

2012

Academic Article

Reserved Access

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

ASIAN JOURNAL OF ANDROLOGY.

2012

Academic Article

Open Access

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

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.

2011

Academic Article

Reserved Access

Syndromes of resistance to TSH = Syndromes de résistance à TSH.

ANNALES D'ENDOCRINOLOGIE.

2011

Academic Article

Reserved Access

Genetics and phenomics of hypothyroidism due to TSH resistance.

MOLECULAR AND CELLULAR ENDOCRINOLOGY.

2010

Academic Article

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

CLINICAL AND EXPERIMENTAL IMMUNOLOGY.

2010

Academic Article

Reserved Access

A family with complete resistance to thyrotropin-releasing hormone.

NEW ENGLAND JOURNAL OF MEDICINE.

2009

Academic Article

Primary Ovarian Insufficiency : X chromosome defects and autoimmunity.

JOURNAL OF AUTOIMMUNITY.

2009

Academic Article

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

ENDOCRINOLOGY.

2008

Academic Article

Direct visualisation of cyclic AMP levels in three dimensional cultures of thyroid follicles.

ENDOCRINOLOGY ABSTRACTS.

2008

Academic Article

VARIABLE PHENOTYPE OF KAL-2 MUTATIONS IN CENTRAL HYPOGONADISM.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. SUPPLEMENT.

2008

Academic Article

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

NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM.

2007

Academic Article

Reserved Access

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

CHEMMEDCHEM.

2006

Academic Article

Reserved Access

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

MOLECULAR ENDOCRINOLOGY.

2006

Academic Article

Reserved Access

Syndromes of hormone resistance in the hypothalamic-pituitary-thyrod axis.

BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM.

2006

Academic Article

Reserved Access

Glycoprotein hormone receptors : link between receptor homodimerization and negative cooperativity.

EMBO JOURNAL.

2005

Academic Article

Reserved Access

Ipotiroidismo centrale: diagnosi, patogenesi e terapia sostitutiva.

L'ENDOCRINOLOGO.

2005

Academic Article

Reserved Access

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

MOLECULAR ENDOCRINOLOGY.

2004

Academic Article

Reserved Access

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

MOLECULAR ENDOCRINOLOGY.

2004

Academic Article

Reserved Access

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

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS.

2002

Academic Article

Reserved Access

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

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2002

Academic Article

Reserved Access

Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.

EMBO JOURNAL.

2002

Academic Article

Reserved Access

Decreased platelet glutamate uptake in patients with amyotrophic lateral sclerosis.

NEUROLOGY.

2001

Academic Article

Reserved Access

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.

THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM.

2001

Academic Article

Reserved Access

Control of GnRH Secretion.

ENDOCRINOLOGY. Springer International Publishing.

2016

Chapter

Reserved Access

Central hypothyroidism.

Springer International Publishing.

2015

Chapter

Reserved Access

Malattie delle gonadi.

CORE CURRICULUM. McGraw Hill.

2014

Chapter

Uncertainties in endocrine substitution therapy for central endocrine insufficiencies : hypothyroidism.

HANDBOOK OF CLINICAL NEUROLOGY. Elsevier.

2014

Chapter

Malattie endocrine dell'ovaio e infertilità femminile.

McGraw Hill.

2013

Chapter

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

METHODS IN ENZYMOLOGY. Elsevier.

2013

Chapter

Reserved Access

Physiologie de l'axe thyréotrope.

Flammarion médecine-sciences.

2007

Chapter

Effetto di una dieta carente di iodio sulla funzione tiroidea in topi knock out per il gene della pendrina.

2008

Document

Studies on an Italian Series of Idiopathic Central Hypogonadism : Genetic and Clinical Characterization.

2008

Document

Diagnostic and therapeutic challenges of acquired thyrotropic deficiency.

ANNALES D'ENDOCRINOLOGIE.

2012

Review

BONOMI MARCO

Pubblicazioni (73)

Prevalence on inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH).

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

45,X/46,X,i(Yp) : Importance of Assessment and Support during Puberty and Adolescence.

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

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

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

GnRH antagonist treatment of malignant adrenocortical tumors.

High density lipoprotein function is reduced in patients affected by genetic or idiopathic hypogonadism.

Male and female sexual dysfunction in diabetic subjects: Focus on new antihyperglycemic drugs.

Selenium supplementation in the management of thyroid autoimmunity during pregnancy: results of the "SERENA study", a randomized, double-blind, placebo-controlled trial.

The diagnosis and management of central hypothyroidism in 2018.

Thyroid function in Klinefelter syndrome: a multi center study from KING group.

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

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

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.

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

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

A Frequent Oligogenic Involvement in Congenital Hypothyroidism.

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

Genetics of primary ovarian insufficiency.

Klinefelter syndrome (KS) : genetics, clinical phenotype and hypogonadism.

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders.

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

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

The multiple genetic causes of central hypothyroidism.

Congenital GnRH deficiency : a complex and genetically heterogeneous disease affecting human fertility and sexual development.

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

The complex genetic basis of congenital hypogonadotropic hypogonadism.

The zebrafish : an emerging animal model for investigating the hypothalamic regulation of reproduction.

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

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

Kallmann’s syndrome and normosmic isolated hypogonadotropic hypogonadism : two largely overlapping manifestations of one rare disorder.

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

THE UNUSUAL ADEQUATE DEVELOPMENT OF A CHILD WITH SEVERE CENTRAL HYPOTHYROIDSM (CeH) NEGATIVE AT NEONATAL TSH SCREENING.

The IGSF1 deficiency syndrome: characteristics of male and female patients.

Blood cell mitochondrial DNA content and premature ovarian aging.

Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.

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.

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

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

Syndromes of resistance to TSH = Syndromes de résistance à TSH.

Genetics and phenomics of hypothyroidism due to TSH resistance.

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

A family with complete resistance to thyrotropin-releasing hormone.

Primary Ovarian Insufficiency : X chromosome defects and autoimmunity.

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

Direct visualisation of cyclic AMP levels in three dimensional cultures of thyroid follicles.

VARIABLE PHENOTYPE OF KAL-2 MUTATIONS IN CENTRAL HYPOGONADISM.

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

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

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

Syndromes of hormone resistance in the hypothalamic-pituitary-thyrod axis.

Glycoprotein hormone receptors : link between receptor homodimerization and negative cooperativity.

Ipotiroidismo centrale: diagnosi, patogenesi e terapia sostitutiva.

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

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

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

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

Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.

Decreased platelet glutamate uptake in patients with amyotrophic lateral sclerosis.

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.

Control of GnRH Secretion.

Central hypothyroidism.

Malattie delle gonadi.

Uncertainties in endocrine substitution therapy for central endocrine insufficiencies : hypothyroidism.

Malattie endocrine dell'ovaio e infertilità femminile.

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

Physiologie de l'axe thyréotrope.

Effetto di una dieta carente di iodio sulla funzione tiroidea in topi knock out per il gene della pendrina.

Studies on an Italian Series of Idiopathic Central Hypogonadism : Genetic and Clinical Characterization.

Diagnostic and therapeutic challenges of acquired thyrotropic deficiency.

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