CARLOTTA PIA CRISTALLI

Employment

• IRCCS Azienda Ospedaliero-Universitaria di Bologna

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (13)

• Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder
  International Journal of Molecular Sciences 2026 DOI: 10.3390/ijms27177655
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• Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy
  Carlotta Pia Cristalli, Maria Alessandra Schiavo, Miryam Rosa Stella Foti +27 more
  Genes 2026 DOI: 10.3390/genes17080882
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• Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts
  Genes 2025 DOI: 10.3390/genes16050472
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• Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication
  Clinical Journal of the American Society of Nephrology 2025 DOI: 10.2215/CJN.0000000625
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• The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease
  Journal of Nephrology 2025 DOI: 10.1007/s40620-024-02181-6
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• DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
  Genes 2023 DOI: 10.3390/genes15010003
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• Identification of a serum and urine extracellular vesicle signature predicting renal outcome after kidney transplant
  Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2023 DOI: 10.1093/ndt/gfac259
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• Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles
  Genes 2023 DOI: 10.3390/genes14061230
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• Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
  Frontiers in Genetics 2020 DOI: 10.3389/fgene.2020.00464
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• Genetic Variants Within Molecular Targets of Antipsychotic Treatment: Effects on Treatment Response, Schizophrenia Risk, and Psychopathological Features
  Journal of Molecular Neuroscience 2018 DOI: 10.1007/s12031-017-1002-1
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• Pleiotropic genes in psychiatry: Calcium channels and the stress-related FKBP5 gene in antidepressant resistance
  Progress in Neuro-Psychopharmacology and Biological Psychiatry 2018 DOI: 10.1016/j.pnpbp.2017.10.005
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• Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders
  Genes and Genomics 2017 DOI: 10.1007/s13258-017-0552-5
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• A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome
  Diabetes Research and Clinical Practice 2016 DOI: 10.1016/j.diabres.2016.08.020
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