Lista de obras - Antonio Balsamo - Dominio Público Uruguay

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

artículo científico publicado en 2009

46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

artículo científico publicado en 2019

A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy

artículo científico publicado en 2017

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism

article

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia

article

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

scientific article published on 12 August 2019

Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes

artículo científico publicado en 2006

Birth weight affects final height in patients treated for growth hormone deficiency

artículo científico publicado en 1999

Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads

artículo científico

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

article

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency

artículo científico publicado en 2003

Changes over time in sex assignment for disorders of sex development.

artículo científico publicado en 2014

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

artículo científico publicado en 2009

Childhood obesity classification systems and cardiometabolic risk factors: a comparison of the Italian, World Health Organization and International Obesity Task Force references

artículo científico publicado en 2017

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

artículo científico publicado en 2019

Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management".

artículo científico publicado en 2014

Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism

artículo científico publicado en 2013

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

scientific article published on 11 September 2013

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

article

Decoding difficulties of facial expression of emotions in mothers of children suffering from developmental obesity

artículo científico publicado en 1996

Decreased prolactin secretion in obesity

artículo científico publicado en 1986

Deficit in the discrimination of nonverbal emotions in children with obesity and their mothers

artículo científico publicado en 2003

Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics

artículo científico publicado en 2018

Disordered prolactin secretion in the obese child and adolescent

artículo científico publicado en 1981

Disorders of Sexual Development

article

Effect on adult height of pubertal growth hormone retesting and withdrawal of therapy in patients with previously diagnosed growth hormone deficiency

artículo científico publicado en 2006

Emotion Recognition and Expression in Young Obese Participants: Preliminary Study

Emotion recognition and expression in young obese participants: preliminary study

artículo científico publicado en 2007

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders

article by E Cacciari et al published March 1994 in The Journal of Clinical Endocrinology and Metabolism

Endocrine Diseases of Newborn

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

artículo científico publicado en 2018

Final height of patients treated for isolated GH deficiency: examination of 83 patients

artículo científico publicado en 1997

Final height of short subjects of low birth weight with and without growth hormone treatment

artículo científico publicado en 2001

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia

artículo científico publicado en 2004

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1

article

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

article

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

artículo científico publicado en 2008

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

artículo científico publicado en 2017

Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects

artículo científico publicado en 1981

Growing Up with Type 1 Narcolepsy: Its Anthropometric and Endocrine Features

artículo científico publicado en 2016

HEMOSTATIC BALANCE ALTERATIONS IN OBESE CHILDREN

scientific article published on 01 May 1982

Haemorheologic and fibrinolytic evaluation in obese children and adolescents

artículo científico publicado en 1988

Hamartomas of the Tuber cinereum and Precocious Puberty

High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy

artículo científico publicado en 2013

Hirsutism and Virilization

How many cases of true precocious puberty in girls are idiopathic?

artículo científico publicado en 1983

Impact of molecular genetics on congenital adrenal hyperplasia management

artículo científico publicado en 2010

Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient

article

In vivo isotope study of the thyroid with 99mTcO 4 ? in neonatal congenital hypothyroidism

artículo científico publicado en 1984

Increased large artery intima media thickness in adolescents with either classical or non-classical congenital adrenal hyperplasia

artículo científico publicado en 2011

Influence of growth hormone on thymic endocrine activity in humans

artículo científico publicado en 1990

Insulin resistance is a risk factor for high blood pressure regardless of body size and fat distribution in obese children

artículo científico publicado en 2009

Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia

artículo científico publicado en 1999

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

artículo científico publicado en 2018

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

artículo científico publicado en 2006

Long term growth hormone (GH)-releasing hormone and biosynthetic GH therapy in GH-deficient children: comparison of therapeutic effectiveness

Long-term follow-up and final height in girls with central precocious puberty treated with luteinizing hormone-releasing hormone analogue nasal spray

artículo científico publicado en 1994

Low growth hormone-binding protein in infants with congenital hypothyroidism

artículo científico publicado en 1998

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

artículo científico publicado en 2018

Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype

article

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations

Neonatal Screening for Congenital Adrenal Hyperplasia Using a Microfilter Paper Method for 17-α-Hydroxyprogesterone Radioimmunoassay

article

Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-α-hydroxyprogesterone assay

article

Neonatal screening for congenital adrenal hyperplasia

artículo científico publicado en 1983

Neonatal screening programme for congenital adrenal hyperplasia in a homogeneous Caucasian population

artículo científico publicado en 1986

Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood

artículo científico publicado en 2018

Novel associations in disorders of sex development: findings from the I-DSD Registry

artículo científico publicado en 2013

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

artículo científico publicado en 2019

Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient

artículo científico publicado en 1992

Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency

artículo científico publicado en 2020

Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity

artículo científico publicado en 2009

Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development

artículo científico publicado en 2015

Randomised trial of LHRH analogue treatment on final height in girls with onset of puberty aged 7.5-8.5 years

artículo científico publicado en 1999

Rare diseases research and practice

artículo científico

Reproductive outcome in patients treated and not treated for idiopathic early puberty: long-term results of a randomized trial in adults

article

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"

scientific article published on 01 December 2019

Response to growth hormone therapy in patients with growth hormone deficiency who at birth were small or appropriate in size for gestational age.

artículo científico publicado en 1995

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects

artículo científico publicado en 2005

Severe obesity and cardiometabolic risk in children: comparison from two international classification systems

artículo científico publicado en 2013

The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience

artículo científico publicado en 2007

Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage

article

Thyroid Function and Prolactin Levels in Insulin-dependent Diabetic Children and Adolescents

artículo científico publicado en 1984

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

article

Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?

artículo científico publicado en 2003

Triglycerides-to-HDL cholesterol ratio as screening tool for impaired glucose tolerance in obese children and adolescents

artículo científico publicado en 2015

Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.

artículo científico publicado en 2017

Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor

artículo científico publicado en 1994

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism

artículo científico publicado en 2006

Value and limits of pharmacological and physiological tests to diagnose growth hormone (GH) deficiency and predict therapy response: first and second retesting during replacement therapy of patients defined as GH deficient

artículo científico publicado en 1994

Variability of growth hormone response to pharmacological and sleep tests performed twice in short children

artículo científico publicado en 1990

X-linked hypophosphatemic rickets: an Italian experts' opinion survey

artículo científico publicado en 2019

Lista de obras de Antonio Balsamo

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia

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

Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes

Birth weight affects final height in patients treated for growth hormone deficiency

Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency

Changes over time in sex assignment for disorders of sex development.

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

Childhood obesity classification systems and cardiometabolic risk factors: a comparison of the Italian, World Health Organization and International Obesity Task Force references

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management".

Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

Decoding difficulties of facial expression of emotions in mothers of children suffering from developmental obesity

Decreased prolactin secretion in obesity

Deficit in the discrimination of nonverbal emotions in children with obesity and their mothers

Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics

Disordered prolactin secretion in the obese child and adolescent

Disorders of Sexual Development

Effect on adult height of pubertal growth hormone retesting and withdrawal of therapy in patients with previously diagnosed growth hormone deficiency

Emotion Recognition and Expression in Young Obese Participants: Preliminary Study

Emotion recognition and expression in young obese participants: preliminary study

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders

Endocrine Diseases of Newborn

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

Final height of patients treated for isolated GH deficiency: examination of 83 patients

Final height of short subjects of low birth weight with and without growth hormone treatment

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects

Growing Up with Type 1 Narcolepsy: Its Anthropometric and Endocrine Features

HEMOSTATIC BALANCE ALTERATIONS IN OBESE CHILDREN

Haemorheologic and fibrinolytic evaluation in obese children and adolescents

Hamartomas of the Tuber cinereum and Precocious Puberty

High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy

Hirsutism and Virilization

How many cases of true precocious puberty in girls are idiopathic?

Impact of molecular genetics on congenital adrenal hyperplasia management

Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient

In vivo isotope study of the thyroid with 99mTcO 4 ? in neonatal congenital hypothyroidism

Increased large artery intima media thickness in adolescents with either classical or non-classical congenital adrenal hyperplasia

Influence of growth hormone on thymic endocrine activity in humans

Insulin resistance is a risk factor for high blood pressure regardless of body size and fat distribution in obese children

Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

Long term growth hormone (GH)-releasing hormone and biosynthetic GH therapy in GH-deficient children: comparison of therapeutic effectiveness

Long-term follow-up and final height in girls with central precocious puberty treated with luteinizing hormone-releasing hormone analogue nasal spray

Low growth hormone-binding protein in infants with congenital hypothyroidism

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations

Neonatal Screening for Congenital Adrenal Hyperplasia Using a Microfilter Paper Method for 17-α-Hydroxyprogesterone Radioimmunoassay

Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-α-hydroxyprogesterone assay

Neonatal screening for congenital adrenal hyperplasia

Neonatal screening programme for congenital adrenal hyperplasia in a homogeneous Caucasian population

Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood

Novel associations in disorders of sex development: findings from the I-DSD Registry

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient

Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency

Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity

Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development

Randomised trial of LHRH analogue treatment on final height in girls with onset of puberty aged 7.5-8.5 years

Rare diseases research and practice

Reproductive outcome in patients treated and not treated for idiopathic early puberty: long-term results of a randomized trial in adults

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"

Response to growth hormone therapy in patients with growth hormone deficiency who at birth were small or appropriate in size for gestational age.

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects