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V. Bertini · SciRah

Researcher profile · Semantic Scholar

V. Bertini

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V. Bertini — researcher profile on SciRah

h-index: 15
Works: 79
Citations: 916

Most-cited papers

The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.
A. De Grandi, V. Calvari, V. Bertini, A. Bulfone +4 more
2000Mechanisms of Development131 citations Open access
Semantic Scholar
A new submicroscopic deletion that refines the 9p region for sex reversal.
Vladimiro Calvari, V. Bertini, A. De Grandi, Giuliana Peverali +6 more
2000Genomics100 citations
Semantic Scholar
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy
A. Orsini, A. Valetto, V. Bertini, M. Esposito +6 more
2019Seizure70 citations Open access
Semantic Scholar
Isolated 6q terminal deletions: An emerging new syndrome
V. Bertini, G. Devito, Rosa Costa, P. Simi +1 more
2006American Journal of Medical Genetics. Part A49 citations
Semantic Scholar
Homeobox HOXA10 Gene Analysis in Cryptorchidism
V. Bertini, S. Bertelloni, A. Valetto, R. Lala +2 more
2004Journal of Pediatric Endocrinology & Metabolism (JPEM)37 citations
Semantic Scholar
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
A. Valetto, A. Orsini, V. Bertini, B. Toschi +6 more
2012European Journal of Medical Genetics34 citations
Semantic Scholar
A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.
A. Valetto, V. Bertini, E. Rapalini, P. Simi
2005Fertility and Sterility29 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
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22
R. Battini, A. Battaglia, V. Bertini, G. Cioni +5 more
2004American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.
V. Bertini, P. Ghirri, M. Bicocchi, P. Simi +1 more
2010Fertility and Sterility21 citations
Semantic Scholar
Mosaic ring Y chromosome in two normal healthy men with azoospermia.
V. Bertini, D. Canale, M. Bicocchi, P. Simi +1 more
2005Fertility and Sterility21 citations Open access
Semantic Scholar
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
V. Bertini, A. Azzarà, A. Legitimo, R. Milone +3 more
2017Frontiers in Genetics20 citations Open access
Semantic Scholar
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
A. Orsini, A. Santangelo, Francesca Bravin, A. Bonuccelli +30 more
2022Genes18 citations Open access
Semantic Scholar
Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
V. Bertini, A. Valetto, A. Uccelli, E. Tarantino +1 more
2008Fertility and Sterility17 citations Open access
Semantic Scholar
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
P. Aretini, C. Mazzanti, M. la Ferla, S. Franceschi +8 more
2018BMC Neurology16 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
Vitamin D status and the immune assessment in 22q11.2 deletion syndrome
A. Legitimo, V. Bertini, G. Costagliola, G. Baroncelli +3 more
2020Clinical and Experimental Immunology15 citations Open access
Semantic Scholar
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
N. Kurtas, L. Xumerle, U. Giussani, Alessandra Pansa +8 more
2018Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
A. Valetto, V. Bertini, E. Rapalini, F. Baldinotti +2 more
2004Fertility and Sterility15 citations Open access
Semantic Scholar
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
M. S. Rocca, G. Piatti, A. Michelucci, R. Guazzo +5 more
2020BMC Medical Genetics13 citations Open access
Semantic Scholar
Acro‐cardio‐facial syndrome: A microdeletion syndrome?
B. Toschi, A. Valetto, V. Bertini, C. Congregati +3 more
2012American Journal of Medical Genetics. Part A13 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
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
S. Gana, A. Valetto, B. Toschi, Irene Sardelli +3 more
2019Frontiers in Genetics12 citations Open access
Semantic Scholar
EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: a case report.
G. Alí, A. Proietti, C. Niccoli, S. Pelliccioni +8 more
2013Lung Cancer11 citations
Semantic Scholar
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype
G. Costagliola, A. Legitimo, V. Bertini, Antonino Maria Quintilio Alberio +2 more
2023Journal of Clinical Medicine10 citations Open access
Semantic Scholar
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
F. Grati, I. Bestetti, Daria De Siero, F. Malvestiti +72 more
2022Prenatal Diagnosis10 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
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.
R. Milone, A. Valetto, R. Battini, V. Bertini +3 more
2016European Journal of Medical Genetics9 citations
Semantic Scholar
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
V. Bertini, Francesca Cambi, R. Bruno, B. Toschi +4 more
2015Journal of Human Genetics8 citations
Semantic Scholar
17q12 Microduplications: A challenge for clinicians
V. Bertini, A. Orsini, A. Bonuccelli, Francesca Cambi +6 more
2015American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
45,X Maleness: Clinical and Cytogenetic Features in Two Patients
Eleonora Dati, A. Valetto, V. Bertini, E. Chiocca +3 more
2012Sexual Development8 citations
Semantic Scholar
Cytogenetic study of 435 subfertile men: incidence and clinical features.
V. Bertini, P. Simi, A. Valetto
2006Journal of reproductive medicine8 citations
Semantic Scholar
Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient
S. Bertelloni, E. Dati, A. Valetto, V. Bertini +2 more
2002HORMONES8 citations Open access
Semantic Scholar
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7.
A. Orsini, A. Bonuccelli, P. Striano, A. Azzarà +5 more
2018Seizure7 citations Open access
Semantic Scholar
Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup
E. Ciabatti, A. Valetto, V. Bertini, M. I. Ferreri +8 more
2017OncoTarget7 citations Open access
Semantic Scholar
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature
F. Forli, Silvia Capobianco, S. Berrettini, L. Bruschini +4 more
2023Medicina6 citations Open access
Semantic Scholar
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
V. Bertini, Francesca Cambi, A. Orsini, A. Bonuccelli +7 more
2022Genes6 citations Open access
Semantic Scholar
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
V. Bertini, R. Milone, P. Cristofani, Francesca Cambi +6 more
2022Genes6 citations Open access
Semantic Scholar
Maternally derived 15q11.2‐q13.1 duplication in a child with Lennox–Gastaut‐type epilepsy and dysmorphic features: Clinical‐genetic characterization of the family and review of the literature
A. Bonuccelli, A. Valetto, A. Orsini, A. Michelucci +3 more
2017American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development
V. Bertini, F. Baldinotti, P. Parma, N. Tyutyusheva +7 more
2023Genes5 citations Open access
Semantic Scholar
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
R. Milone, R. Masson, C. Di Cosmo, M. Tonacchera +3 more
2019Child Neurology Open5 citations Open access
Semantic Scholar
3p26.3 terminal deletions: a challenge for prenatal genetic counseling
V. Bertini, A. Azzarà, B. Toschi, S. Gana +1 more
2017Prenatal Diagnosis5 citations
Semantic Scholar
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
V. Bertini, A. Valetto, A. Uccelli, A. Bonuccelli +3 more
2008American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
M. Pifferi, A. Boner, A. Cangiotti, Alessandro Cudazzo +9 more
2024Pediatric Pulmonology4 citations
Semantic Scholar
Longitudinal nitric oxide levels and infections by ultrastructure and genotype in primary ciliary dyskinesia.
M. Pifferi, A. Boner, Serena Gracci, Rossella Fonnesu +10 more
2022Chest4 citations
Semantic Scholar
Methylenetetrahydrofolate reductase polymorphism (MTHFR C677T) and headache in children: a retrospective study from a tertiary level outpatient service
A. Orsini, I. Sammartino, A. Valetto, V. Bertini +3 more
2018Italian Journal of Pediatrics4 citations Open access
Semantic Scholar
Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.
R. Milone, A. Valetto, V. Bertini, F. Sicca
2017Epileptic disorders4 citations
Semantic Scholar
A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
V. Bertini, A. Valetto, A. Azzarà, A. Legitimo +4 more
2017Frontiers in Pediatrics4 citations Open access
Semantic Scholar
An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.
V. Bertini, D. Viola, P. Vitti, P. Simi +1 more
2012Gene4 citations
Semantic Scholar
Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
G. Fogu, V. Bertini, S. Dessole, P. Bandiera +5 more
2002Archives of Gynecology and Obstetrics4 citations
Semantic Scholar

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