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Melissa Bellini

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
2009 · Lucia Ballarati, Maria Paola Recalcati, et al. · European Journal of Medical Genetics · 98
The phenotype of recurrent 10q22q23 deletions and duplications
2011 · Bregje W M van Bon, Jorune Balciuniene, et al. · European Journal of Human Genetics · 64
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
2024 · María del Rocío Pérez Baca, Eva Z. Jacobs, et al. · The American Journal of Human Genetics · 47
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature
2012 · Aglaia Vignoli, Renato Borgatti, et al. · Epilepsia · 43
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023 · Francesca Peluso, Stefano G Caraffi, et al. · Journal of Medical Genetics · 26
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STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade
2005 · Alessandro Beghini, Melissa Bellini, et al. · Experimental Hematology · 24
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Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature
2012 · Maria Paola Recalcati, Melissa Bellini, et al. · Gene · 21
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
2018 · Letizia Straniero, Valeria Rimoldi, et al. · Frontiers in Genetics · 20
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Multiple Localization of Endogenous MARK4L Protein in Human Glioma
2009 · Ivana Magnani, Chiara Novielli, et al. · Analytical Cellular Pathology · 19
Piebald Trait: Implication of kit Mutation on In Vitro Melanocyte Survival and on the Clinical Application of Cultured Epidermal Autografts
2006 · Sergio Bondanza, Melissa Bellini, et al. · Journal of Investigative Dermatology · 17
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
2024 · Maria Lisa Dentici, Marcello Niceta, et al. · European Journal of Human Genetics · 12
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Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
2023 · Valeria Barili, Enrico Ambrosini, et al. · Genes · 11
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Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene
2024 · Alessandro Vimercati, Pierpaola Tannorella, et al. · The Journal of Clinical Endocrinology & Metabolism · 8
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Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders
2023 · Susanna Rizzi, Carlotta Spagnoli, et al. · Genes · 6
An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature
2024 · Maria Giardino, Francesca Peluso, et al. · European Child & Adolescent Psychiatry · 2
Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression
2006 · Maria Francesca Bedeschi, Fabienne Escande, et al. · Clinical Dysmorphology · 2
PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion
2025 · Alessandro Vimercati, Giuseppa Patti, et al. · Scientific Reports · 1
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The Importance of Knowing Growth and Pubertal Development in Down Syndrome
2015 · Giuseppe Cannalire, Melissa Bellini · Journal of Clinical Case Reports · 1
Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review
2026 · Elisa Gravagno, Melissa Bellini, et al. · International Journal of Molecular Sciences
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Distinguishing genetic alterations versus (Epi)mutations in silver–russell syndrome and focus on the IGF1R gene
2025 · Alessandro Vimercati, Pierpaola Tannorella, et al. · Yearbook of pediatric endocrinology
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3‐OMD Testing: An Italian Delphi Consensus
2024 · Carlotta Spagnoli, Roberta Battini, et al. · Behavioural Neurology
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
2021 · Maria del Rocio Pérez Baca, Eva Jacobs, et al.
Abstract P4-06-09: Withdrawn
2019 · F Corsi, F Andreata, et al. · Cancer Research
Abstract P6-12-17: H-ferritin allows nanometronomic treatment of breast cancer with doxorubicin preventing drug resistance and circumventing cardiotoxicity
2017 · S Mazzucchelli, L Fiandra, et al. · Cancer Research
Works count: 25
Citation count: 422
H-index: 11
I10-index: 12
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