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S. Bertelloni · SciRah

Researcher profile · Semantic Scholar

S. Bertelloni

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S. Bertelloni — researcher profile on SciRah

h-index: 40
Works: 258
Citations: 5,270

Most-cited papers

Changes Over Time in Sex Assignment for Disorders of Sex Development
Z. Kolesinska, S. F. Ahmed, M. Niedziela, J. Bryce +23 more
2014Pediatrics107 citations Open access
Semantic Scholar
Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry
Kathryn Cox, J. Bryce, Ji-Pu Jiang, M. Rodie +20 more
2013Journal of Clinical Endocrinology and Metabolism107 citations Open access
Semantic Scholar
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene
A. Lucas-Herald, S. Bertelloni, A. Juul, J. Bryce +20 more
2016Journal of Clinical Endocrinology and Metabolism92 citations Open access
Semantic Scholar
The Use of Bisphosphonates in Pediatrics
G. Baroncelli, S. Bertelloni
2014Hormone Research in Paediatrics77 citations Open access
Semantic Scholar
Complete Androgen Insensitivity Syndrome: From Bench to Bed
N. Tyutyusheva, I. Mancini, G. Baroncelli, S. D'Elios +3 more
2021International Journal of Molecular Sciences66 citations Open access
Semantic Scholar
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.
Franco D’Alberton, M. Assante, M. Foresti, A. Balsamo +5 more
2015Journal of Sexual Medicine66 citations
Semantic Scholar
Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome
U. Doehnert, S. Bertelloni, R. Werner, E. Dati +1 more
2015Sexual Development57 citations Open access
Semantic Scholar
Hormonal Management of Complete Androgen Insensitivity Syndrome from Adolescence Onward
S. Bertelloni, E. Dati, G. Baroncelli, O. Hiort
2011Hormone Research in Paediatrics51 citations Open access
Semantic Scholar
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis
M. Miccoli, S. Bertelloni, F. Massart
2016Hormone Research in Paediatrics49 citations
Semantic Scholar
Bone Health in Disorders of Sex Differentiation
S. Bertelloni, G. Baroncelli, S. Mora
2010Sexual Development43 citations
Semantic Scholar
Body Mass Index and Body Composition in Adolescents Treated with Gonadotropin-Releasing Hormone Analogue Triptorelin Depot for Central Precocious Puberty: Data at Near Final Height
E. Chiocca, E. Dati, G. Baroncelli, S. Mora +3 more
2009Neuroendocrinology41 citations
Semantic Scholar
Adult height after spontaneous pubertal growth or GnRH analog treatment in girls with early puberty: a meta-analysis
S. Bertelloni, F. Massart, M. Miccoli, G. Baroncelli
2017European Journal of Pediatrics37 citations
Semantic Scholar
Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets
G. Baroncelli, E. Zampollo, M. Manca, B. Toschi +6 more
2020Journal of Bone and Mineral Metabolism36 citations
Semantic Scholar
Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development
S. Bertelloni, G. Russo, G. Baroncelli
2017Sexual Development36 citations
Semantic Scholar
17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence
S. Bertelloni, A. Balsamo, L. Giordani, R. Fischetto +12 more
200934 citations
Semantic Scholar
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads
S. Bertelloni, M. Meriggiola, E. Dati, A. Balsamo +1 more
2017Sexual Development32 citations
Semantic Scholar
Androgen Therapy in Hypogonadal Adolescent Males
S. Bertelloni, G. Baroncelli, P. Garofalo, S. Cianfarani
2010Hormone Research in Paediatrics31 citations
Semantic Scholar
Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis.
M. Ljubicic, A. Jørgensen, C. Acerini, J. Andrade +19 more
2019Journal of Clinical Endocrinology and Metabolism30 citations Open access
Semantic Scholar
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients
G. Baroncelli, Francesco Vierucci, S. Bertelloni, P. Erba +2 more
2013Journal of Bone and Mineral Metabolism30 citations
Semantic Scholar
Sex hormone replacement in disorders of sex development.
W. Birnbaum, S. Bertelloni
2014Endocrine Development27 citations
Semantic Scholar
Current pharmacotherapy of central precocious puberty by GnRH analogs: certainties and uncertainties
S. Bertelloni, G. Baroncelli
2013Expert Opinion on Pharmacotherapy27 citations
Semantic Scholar
Birth Weight in Different Etiologies of Disorders of Sex Development
S. Poyrazoglu, F. Darendeliler, S. F. Ahmed, I. Hughes +16 more
2017Journal of Clinical Endocrinology and Metabolism26 citations Open access
Semantic Scholar
5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort
S. Bertelloni, F. Baldinotti, G. Russo, P. Ghirri +7 more
2016Sexual Development26 citations
Semantic Scholar
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
C. Di Marco, A. L. Bulotta, C. Varetti, L. Dosa +11 more
2013Gene25 citations
Semantic Scholar
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
S. Bertelloni, G. Baroncelli, E. Dati, S. Ghione +3 more
2013HORMONES24 citations
Semantic Scholar
Central Precocious Puberty: Adult Height in Girls Treated with Quarterly or Monthly Gonadotropin-Releasing Hormone Analog Triptorelin
S. Bertelloni, F. Massart, S. Einaudi, M. Wasniewska +2 more
2015Hormone Research in Paediatrics23 citations
Semantic Scholar
Bone mineral density, body composition and metabolic profiles in adult women with complete androgen insensitivity syndrome and removed gonads using oral or transdermal estrogens.
Giulia Gava, I. Mancini, Isabella Orsili, S. Bertelloni +3 more
2019European Journal of Endocrinology22 citations Open access
Semantic Scholar
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
F. Baldinotti, T. Cavallaro, E. Dati, G. Baroncelli +7 more
2018Hormone Research in Paediatrics22 citations
Semantic Scholar
Impaired GH Secretion in Patients with SHOX Deficiency and Efficacy of Recombinant Human GH Therapy
L. Iughetti, S. Vannelli, M. Street, P. Pirazzoli +8 more
2012Hormone Research in Paediatrics22 citations Open access
Semantic Scholar
Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth
S. Bertelloni, G. Baroncelli, F. Massart, B. Toschi
2015Sexual Development20 citations Open access
Semantic Scholar
NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
M. Faienza, M. Chiarito, F. Baldinotti, D. Canale +8 more
2020Sexual Development19 citations
Semantic Scholar
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis.
F. Massart, M. Miccoli, A. Baggiani, S. Bertelloni
2015Pharmacogenomics (London)19 citations
Semantic Scholar
Central Precocious Puberty: Treatment with Triptorelin 11.25 mg
E. Chiocca, E. Dati, G. Baroncelli, A. Cassio +6 more
2012TheScientificWorldJournal19 citations Open access
Semantic Scholar
Thallium Contamination of Drinking Water: Health Implications in a Residential Cohort Study in Tuscany (Italy)
D. Nuvolone, D. Petri, M. Aprea, S. Bertelloni +2 more
2021International Journal of Environmental Research and Public Health18 citations Open access
Semantic Scholar
Human biomonitoring to assess exposure to thallium following the contamination of drinking water
M. Aprea, D. Nuvolone, D. Petri, F. Voller +2 more
2020PLoS ONE18 citations Open access
Semantic Scholar
Gonadectomy In Conditions Affecting Sex Development - A Registry-Based Cohort Study.
A. Lucas-Herald, J. Bryce, A. Kyriakou, M. Ljubicic +54 more
2021European Journal of Endocrinology17 citations Open access
Semantic Scholar
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
V. Bertini, A. Fogli, R. Bruno, A. Azzarà +4 more
2017Molecular Syndromology16 citations Open access
Semantic Scholar
NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development
S. Bertelloni, E. Dati, F. Baldinotti, B. Toschi +5 more
2014Hormone Research in Paediatrics16 citations Open access
Semantic Scholar
Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
S. Bertelloni, N. Tyutyusheva, Margherita Valiani, Franco D’Alberton +4 more
2021Frontiers in Pediatrics15 citations Open access
Semantic Scholar
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease
G. Baroncelli, E. Ferretti, C. Pini, B. Toschi +2 more
2017Molecular Syndromology15 citations Open access
Semantic Scholar
Analysis of quantitative ultrasound graphic trace and derived variables assessed at proximal phalanges of the hand in healthy subjects and in patients with cerebral palsy or juvenile idiopathic arthritis. A pilot study.
G. Baroncelli, R. Battini, S. Bertelloni, E. Brunori +5 more
2010Bone14 citations
Semantic Scholar
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
V. Bertini, A. Valetto, F. Baldinotti, A. Azzarà +7 more
2019Molecular Syndromology12 citations Open access
Semantic Scholar
Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review
S. Bertelloni, F. Baldinotti, G. Baroncelli, M. Caligo +1 more
2019Sexual Development12 citations
Semantic Scholar
Hypophosphatemic rickets
G. Baroncelli, B. Toschi, S. Bertelloni
2012Current Opinion in Endocrinology, Diabetes & Obesity12 citations
Semantic Scholar
Triptorelin depot for the treatment of children 2 years and older with central precocious puberty
S. Bertelloni, Cristina Mucaria, G. Baroncelli, D. Peroni
2018Expert Review of Clinical Pharmacology11 citations
Semantic Scholar
Central Precocious Puberty in Boys and Girls: Similarities and Differences
Cristina Mucaria, N. Tyutyusheva, G. Baroncelli, D. Peroni +1 more
2021Sexes10 citations Open access
Semantic Scholar
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature
A. Valetto, V. Bertini, A. Michelucci, B. Toschi +3 more
2016Molecular Syndromology10 citations Open access
Semantic Scholar
5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature
C. Cocchetti, J. Ristori, F. Mazzoli, Antonio Prunas +5 more
2020Journal of Endocrinological Investigation8 citations Open access
Semantic Scholar
Quantification of dehydroepiandrosterone in human serum on a routine basis: development and validation of a tandem mass spectrometry method based on a surrogate analyte
B. Campi, S. Frascarelli, E. Pietri, I. Massa +6 more
2017Analytical and Bioanalytical Chemistry8 citations
Semantic Scholar
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description
R. Battini, S. Bertelloni, G. Astrea, Manuela Casarano +5 more
2015BMC Medical Genetics8 citations Open access
Semantic Scholar

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