List of works - Giovanna Weber

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

scientific article published on 28 March 2009

Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis

scientific article published on 10 April 2008

Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches

scientific article published on 01 October 2001

Asymptomatic thyrotropin-secreting pituitary macroadenoma in a 13-year-old girl: successful first-line treatment with somatostatin analogs

scientific article published on 04 September 2012

Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

scientific article published on 5 January 2004

Bone density and bone metabolism are normal after long-term gluten-free diet in young celiac patients

scientific article published on 01 February 1999

Bone density in young patients with congenital adrenal hyperplasia.

scientific article published in April 1996

Bone modeling alteration in premature infants

scientific article published on 01 November 1994

Bone turnover in neonates: changes of urinary excretion rate of collagen type I cross-linked peptides during the first days of life and influence of gestational age.

scientific article published in June 1997

Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets

scientific article published on 5 June 2015

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

scientific article published on 03 February 2011

Comparison of clinical-radiological and molecular findings in hypochondroplasia

scientific article published on 01 January 1998

Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism ⬇️

scientific article published on February 26, 2013

Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine.

scientific article published on 12 November 2013

Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.

scientific article published on 20 February 2013

DUOXS defects: Genotype-phenotype correlations.

scientific article published on 20 April 2011

Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism.

scientific article published on 13 August 2008

Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases.

scientific article

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia

scientific article published on 01 March 2001

Diagnostic features of thyroid nodules in pediatrics.

scientific article published in August 2010

Early fractures and occult hyperthyroidism: McCune-Albright syndrome?

scientific article published on 01 January 2001

Evolution of thyroid function in preterm infants detected by screening for congenital hypothyroidism

scientific article published on 8 February 2014

Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study.

scientific article

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

Genetic defects of hydrogen peroxide generation in the thyroid gland.

scientific article published on 12 February 2013

Genetics and phenomics of hypothyroidism due to TSH resistance.

scientific article published on 18 January 2010

Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

scientific article

Graves disease in children: thyroid-stimulating hormone receptor antibodies as remission markers.

scientific article published on 8 February 2014

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

scientific article published in September 2003

Heterogeneous phenotype in children affected by non-autoimmune hypothyroidism: an update.

scientific article published on 28 April 2015

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

Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study

scientific article

Levothyroxine treatment in pediatric benign thyroid nodules.

scientific article published on 7 December 2010

Longitudinal changes of bone density and bone resorption in hyperthyroid girls during treatment

scientific article published on 01 November 1999

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

scientific article published in July 2000

Neurosurgical treatment of craniopharyngioma in adults and children: early and long-term results in a large case series.

scientific article published on 7 January 2011

Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life

scientific article

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

scientific article published on 28 May 2009

Reply

Serum thyrotropin concentration in children with isolated thyroid nodules

scientific article

Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor

scientific article published on 01 January 2006

Sleep and upper airway obstruction in children with achondroplasia.

scientific article

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype

scientific article published on 29 July 2013

Suprasellar granular cell tumor of the neurohypophysis in a child: unusual presentation in pediatric age of a rare tumor.

scientific article

Surgical management of pediatric Graves’ disease: an effective definitive treatment ⬇️

scientific article published on April 29, 2012

Testicular microlithiasis: An unreported feature of McCUNE-Albright syndrome in males

scientific article published on 01 November 2004

The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

scientific article published on 12 February 2013

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

scientific article published in January 2013

Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditis

scientific article published in June 2008

Total Iodide Organification Defect: Clinical and Molecular Characterization of an Italian Family

article

Urinary Markers of Bone Turnover in Healthy Children and Adolescents: Age-Related Changes and Effect of Puberty ⬇️

scientific article published on November 1, 1998

Validation of food frequency questionnaire for assessing dietary macronutrients and calcium intake in Italian children and adolescents

scientific article published on 01 May 2005

Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports ⬇️

scientific article published on January 1, 2011

Vitamin D in childhood and adolescence: an expert position statement

scientific article published on 02 April 2015

List of works by Giovanna Weber

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis

Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches

Asymptomatic thyrotropin-secreting pituitary macroadenoma in a 13-year-old girl: successful first-line treatment with somatostatin analogs

Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

Bone density and bone metabolism are normal after long-term gluten-free diet in young celiac patients

Bone density in young patients with congenital adrenal hyperplasia.

Bone modeling alteration in premature infants

Bone turnover in neonates: changes of urinary excretion rate of collagen type I cross-linked peptides during the first days of life and influence of gestational age.

Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Comparison of clinical-radiological and molecular findings in hypochondroplasia

Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism ⬇️

Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine.

Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.

DUOXS defects: Genotype-phenotype correlations.

Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism.

Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases.

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia

Diagnostic features of thyroid nodules in pediatrics.

Early fractures and occult hyperthyroidism: McCune-Albright syndrome?

Evolution of thyroid function in preterm infants detected by screening for congenital hypothyroidism

Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study.

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

Genetic defects of hydrogen peroxide generation in the thyroid gland.

Genetics and phenomics of hypothyroidism due to TSH resistance.

Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

Graves disease in children: thyroid-stimulating hormone receptor antibodies as remission markers.

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

Heterogeneous phenotype in children affected by non-autoimmune hypothyroidism: an update.

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.

Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study

Levothyroxine treatment in pediatric benign thyroid nodules.

Longitudinal changes of bone density and bone resorption in hyperthyroid girls during treatment

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

Neurosurgical treatment of craniopharyngioma in adults and children: early and long-term results in a large case series.

Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

Reply

Serum thyrotropin concentration in children with isolated thyroid nodules

Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor

Sleep and upper airway obstruction in children with achondroplasia.

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype

Suprasellar granular cell tumor of the neurohypophysis in a child: unusual presentation in pediatric age of a rare tumor.

Surgical management of pediatric Graves’ disease: an effective definitive treatment ⬇️

Testicular microlithiasis: An unreported feature of McCUNE-Albright syndrome in males

The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditis

Total Iodide Organification Defect: Clinical and Molecular Characterization of an Italian Family

Urinary Markers of Bone Turnover in Healthy Children and Adolescents: Age-Related Changes and Effect of Puberty ⬇️

Validation of food frequency questionnaire for assessing dietary macronutrients and calcium intake in Italian children and adolescents

Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports ⬇️

Vitamin D in childhood and adolescence: an expert position statement