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List of works by Antonio Balsamo

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

scientific article

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

scientific article published on 17 September 2019

A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy

scientific article published on 23 June 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

scientific article published on 7 March 2006

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

scientific article

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

scientific article published on 18 July 2017

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

scientific article published in December 2003

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

scientific article published on 4 August 2014

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

scientific article

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

scientific article published on 04 February 2017

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

scientific article published on 01 October 2019

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

scientific article

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

scientific article published on 11 January 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

scientific article published in January 1996

Decreased prolactin secretion in obesity

scientific article published on 01 August 1986

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

scientific article published on 01 February 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

scientific article published on 31 July 2018

Disordered prolactin secretion in the obese child and adolescent

scientific article

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

scientific article published on 15 August 2006

Emotion Recognition and Expression in Young Obese Participants: Preliminary Study

Emotion recognition and expression in young obese participants: preliminary study

scientific article published in October 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"

scientific article published on 18 December 2018

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

scientific article published in July 1997

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 7 July 2017

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

scientific article published on April 1981

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

scientific article published on 29 September 2016

HEMOSTATIC BALANCE ALTERATIONS IN OBESE CHILDREN

scientific article published on 01 May 1982

Haemorheologic and fibrinolytic evaluation in obese children and adolescents

scientific article published on 01 May 1988

Hamartomas of the Tuber cinereum and Precocious Puberty

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

scientific article published on February 2013

Hirsutism and Virilization

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

scientific article

Impact of molecular genetics on congenital adrenal hyperplasia management

scientific article published on 15 July 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

scientific article published on 01 January 1984

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

scientific article published on 21 December 2011

Influence of growth hormone on thymic endocrine activity in humans

scientific article published on January 1990

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

scientific article published on 11 September 2009

Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia

scientific article

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

scientific article published on 23 June 2018

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

scientific article

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

scientific article published in November 1994

Low growth hormone-binding protein in infants with congenital hypothyroidism

scientific article published in October 1998

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

scientific article published on 18 October 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

scientific article

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

scientific article published on January 1986

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

scientific article published on 14 February 2018

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

scientific article published on 03 December 2013

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

scientific article published on 22 July 2019

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

scientific article published in June 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

scientific article published on 01 January 2020

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

scientific article

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

scientific article published on 20 April 2015

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

scientific article

Rare diseases research and practice

scientific article published on 09 September 2014

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.

scientific article published in March 1995

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

scientific article published in October 2005

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

scientific article

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

scientific article published on July 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

scientific article published on 01 June 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?

scientific article published in May 2003

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

scientific article published on 21 December 2015

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

scientific article published on 11 February 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

scientific article published on 01 July 1994

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism

scientific article published in August 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

scientific article published in December 1994

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

scientific article published in July 1990

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

scientific article published on 31 May 2019

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