V. Bertini

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Aliases
V Bertini, V. Bertini, Veronica Bertini
Publication record
77 papers · 881 citations · H-index 15

PAPERS

22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D
20252 citationsauthor #1
A tough NUT carcinoma to crack
20250 citationsauthor #6
The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
20242 citationsauthor #8
Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype
20242 citationsauthor #9
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
20234 citationsauthor #1
Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
20231 citationsauthor #4
Chromosomal alterations in sporadic medullary thyroid carcinoma and correlation with outcome.
20231 citationsauthor #6
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature
20233 citationsauthor #7
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype
20238 citationsauthor #3
Autism spectrum disorder and genetic: a possible correlation?
20231 citationsauthor #4
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
20226 citationsauthor #1
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
20228 citationsauthor #36
Longitudinal nitric oxide levels and infections by ultrastructure and genotype in primary ciliary dyskinesia.
20224 citationsauthor #9
Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
20223 citationsauthor #3
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
202218 citationsauthor #8
The prognostic role of chromosomal gains and loss in sporadic medullary thyroid carcinoma
20220 citationsauthor #5
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
20226 citationsauthor #1
Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development
20210 citationsauthor #1
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
202012 citationsauthor #5
Vitamin D status and the immune assessment in 22q11.2 deletion syndrome
202013 citationsauthor #2
A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature
20191 citationsauthor #1
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
201911 citationsauthor #1
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
201911 citationsauthor #7
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
20195 citationsauthor #5
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
201964 citationsauthor #3
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
201814 citationsauthor #9
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
201822 citationsauthor #5
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
201814 citationsauthor #6
Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
20182 citationsauthor #1
Methylenetetrahydrofolate reductase polymorphism (MTHFR C677T) and headache in children: a retrospective study from a tertiary level outpatient service
20184 citationsauthor #4
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7.
20186 citationsauthor #9
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
201715 citationsauthor #1
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?
201720 citationsauthor #1
Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa
20170 citationsauthor #7
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?
20174 citationsauthor #1
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
20176 citationsauthor #7
Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.
20173 citationsauthor #3
A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome
20170 citationsauthor #2
Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup
20176 citationsauthor #3
A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI
20172 citationsauthor #1
3p26.3 terminal deletions: a challenge for prenatal genetic counseling
20174 citationsauthor #1
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.
20169 citationsauthor #4
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature
201610 citationsauthor #2
A 17q duplication prenatally detected.
20152 citationsauthor #3
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
20158 citationsauthor #1
95 MDS: AN INTEGRATED WORKUP FOR A CORRECT DIAGNOSIS
20150 citationsauthor #4
17q12 Microduplications: A challenge for clinicians
20157 citationsauthor #1
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
20151 citationsauthor #4
Myelodysplastic Syndromes: A Multidisciplinary Integrated Diagnostic Work-up for Patients' Risk Stratification
20140 citationsauthor #5
A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism
20130 citationsauthor #2
EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: a case report.
201311 citationsauthor #9
Genetic Hearing Loss Associated with Craniofacial Abnormalities
20120 citationsauthor #7
Acro‐cardio‐facial syndrome: A microdeletion syndrome?
201213 citationsauthor #3
Contents Vol. 5, 2011
20120 citationsauthor #35
An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.
20124 citationsauthor #1
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.
201234 citationsauthor #3
An invdup (15) associated with premature ovarian insufficiency
20120 citationsauthor #3
45,X Maleness: Clinical and Cytogenetic Features in Two Patients
20128 citationsauthor #3
Characterization of a complex rearrangement of a chromosome 20 by FISH and array CGH.
20111 citationsauthor #1
Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.
201021 citationsauthor #1
Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)
20101 citationsauthor #1
Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy
20091 citationsauthor #2
Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
200817 citationsauthor #1
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
20085 citationsauthor #1
Isolated 6q terminal deletions: An emerging new syndrome
200648 citationsauthor #1
Cytogenetic study of 435 subfertile men: incidence and clinical features.
20068 citationsauthor #1
A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.
200529 citationsauthor #2
Mosaic ring Y chromosome in two normal healthy men with azoospermia.
200521 citationsauthor #1
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22
200422 citationsauthor #3
Homeobox HOXA10 Gene Analysis in Cryptorchidism
200436 citationsauthor #1
Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
200414 citationsauthor #2
Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
20032 citationsauthor #2
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
20027 citationsauthor #4
Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
20024 citationsauthor #2
A new submicroscopic deletion that refines the 9p region for sex reversal.
200098 citationsauthor #2
The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.
2000131 citationsauthor #3
Origin of XX males: molecular and cytogenetic investigations
19990 citationsauthor #2

TIMELINE

1999 0 citations

2000 229 citations

2002 11 citations

2003 2 citations

2004 72 citations

2005 50 citations

2006 56 citations

2008 22 citations

2009 1 citations

2010 22 citations

2011 1 citations

2012 59 citations

2013 11 citations

2014 0 citations

2015 18 citations

2016 19 citations

2017 60 citations

2018 62 citations

2019 92 citations

2020 25 citations

2021 0 citations

2022 45 citations

2023 18 citations

2024 4 citations

2025 2 citations

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