Anna Monica Bianco

@burlo.trieste.it

Medical Genetics
Institute for Maternal and Child Health “IRCCS” Burlo Garofolo, Trieste, Italy

Anna Monica Bianco


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https://researchid.co/amony73

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics, Molecular Biology, General Biochemistry, Genetics and Molecular Biology, Molecular Medicine
51

Scopus Publications

Scopus Publications

  • Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction
    Gabriele Stocco, Anna Galletti, Marianna Lucafò, Nagua Giurici, Debora Curci, Sara Solidoro, Valentina Kiren, Anna Monica Bianco, Egidio Barbi, Pio D’Adamo
    Frontiers in Pharmacology, 2025
    We report a case of post-awakening recurrent episodes of spontaneous re-sedation and apnea with severe desaturation after procedural sedation with dexmedetomidine and propofol in a leukemic adolescent with an ionic channel variant. The mutation is located in the 3′-UTR regulatory region of SCN9A. We speculate that this variant may affect the stability of the mRNA, making the patient more susceptible to the combined effects of propofol and dexmedetomidine. This is the first pediatric report of late onset re-sedation with apnoea after combined sedation with propofol and dexmedetomidine highlighting the risk of adverse events in selected patients with a genetic increased susceptibility. If validated by further studies, pharmacogenetic testing may be implemented to provide personalized therapies in patients needing anesthesia.
  • Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers
    Nour Balasan, Feras Kharrat, Giovanni Di Lorenzo, Emmanouil Athanasakis, Anna Monica Bianco, Andrea Conti, Maria Teresa Di Stazio, Giulia Butera, Stefania Cicogna, Alessandro Mangogna, Federico Romano, Giuseppe Ricci, Adamo Pio d’Adamo
    International Journal of Molecular Sciences, 2024
    Early detection of recurrences in gynecological cancers is crucial for women’s health. Circulating tumor DNA (ctDNA) analysis through liquid biopsy offers a promising approach for monitoring disease progression and identifying relapses. This study investigated the utility of digital Polymerase Chain Reaction (dPCR) for ctDNA detection in three gynecological cancer patients with clinically confirmed relapses during a two-year post-surgical follow-up. Patient-specific tumor mutations were identified through whole-exome sequencing (WES) and confirmed via Sanger sequencing. dPCR probes targeting these mutations were used to quantify the ctDNA levels in plasma samples collected throughout the follow-up period, and the findings were compared with standard serum biochemical markers. In two patients, persistent positive dPCR signals for the selected mutations were detected after tumor removal, with ctDNA levels progressively increasing even after post-surgical chemotherapy. Notably, dPCR identified elevated ctDNA levels before an increase in the cancer antigen 125 (CA125) biochemical marker was observed. In the third patient, no ctDNA signals from the two selected mutations were detected despite clinical evidence of recurrence, suggesting the emergence of new mutations. While this study highlights the promise of dPCR for early recurrence detection in gynecological cancers, it also underscores the critical need for comprehensive mutation panels to overcome the inherent challenges posed by tumor heterogeneity and the emergence of new mutations during disease progression.
  • Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity
    Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, Roberta Bulla
    Frontiers in Immunology, 2023
    Primary complement system (C) deficiencies are rare but notably associated with an increased risk of infections, autoimmunity, or immune disorders. Patients with terminal pathway C-deficiency have a 1,000- to 10,000-fold-higher risk of Neisseria meningitidis infections and should be therefore promptly identified to minimize the likelihood of further infections and to favor vaccination. In this paper, we performed a systematic review about clinical and genetic patterns of C7 deficiency starting from the case of a ten-year old boy infected by Neisseria meningitidis B and with clinical presentation suggestive of reduced C activity. Functional assay via Wieslab ELISA Kit confirmed a reduction in total C activity of the classical (0.6% activity), lectin (0.2% activity) and alternative (0.1% activity) pathways. Western blot analysis revealed the absence of C7 in patient serum. Sanger sequencing of genomic DNA extracted from peripheral blood of the patient allowed the identification of two pathogenetic variants in the C7 gene: the already well-characterized missense mutation G379R and a novel heterozygous deletion of three nucleotides located at the 3’UTR (c.*99_*101delTCT). This mutation resulted in an instability of the mRNA; thus, only the allele containing the missense mutation was expressed, making the proband a functional hemizygote for the expression of the mutated C7 allele.
  • What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
    Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d’Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo P. d’Adamo
    Genes, 2022
    Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.
  • MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-Glutamyl Transferase Phenotype
    Lorenza Matarazzo, Anna Monica Bianco, Emmanouil Athanasakis, Marco Serveres, Paola Francalanci, Giovanna Cenacchi, Giuseppe Maggiore, Adamo Pio D'Adamo
    Journal of Pediatric Gastroenterology and Nutrition, 2022
    Objectives:Progressive familial intrahepatic cholestasis is an expanding group of autosomal recessive intrahepatic cholestatic disorders. Recently, next‐generation sequencing allowed identifying new genes responsible for new specific disorders. Two biochemical phenotypes have been identified according to gamma‐glutamyltransferase (GGT) activity. Mutations of the myosin 5B gene (MYO5B) are known to cause microvillus inclusion disease. Recently, different mutations in MYO5B gene have been reported in patients with low‐GGT cholestasis.Methods:A multicenter retrospective and prospective study was conducted in 32 children with cryptogenic intrahepatic cholestasis. Clinical, biochemical, histological, and treatment data were analyzed in these patients. DNA from peripheral blood was extracted, and all patients were studied by whole exome sequencing followed by Sanger sequencing.Results:Six patients out of 32 had mutations in the MYO5B gene. Of these six patients, the median age at disease onset was 0.8 years, and the median length of follow‐up was 4.2 years. The most common signs were pruritus, poor growth, hepatomegaly, jaundice, and hypocholic stools. Two patients also showed intestinal involvement. Transaminases and conjugated bilirubin were moderately increased, serum bile acids elevated, and GGT persistently normal. At anti‐Myo5B immunostaining, performed in liver biopsy of two patients, coarse granules were evident within the cytoplasm of hepatocytes while bile salt export pump was normally expressed at the canalicular membrane. Six variants in homozygosity or compound heterozygosity in the MYO5B gene were identified, and three of them have never been described before. All nucleotide alterations were located on the myosin motor domain except one missense variant found in the isoleucine‐glutamine calmodulin‐binding motif.Conclusions:We identified causative mutations in MYO5B in 18.7% of a selected cohort of patients with intrahepatic cholestasis confirming a relevant role for the MYO5B gene in low‐GGT cholestasis.
  • The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
    Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini
    Genes, 2022
    Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of numerous genes involved in these conditions. However, more than 50% of patients remained undiagnosed. A major obstacle lies in the high degree of genetic heterogeneity and the wide phenotypic variability that has characterized these disorders. Interpreting a large amount of NGS data is also a crucial challenge. This study describes a dynamic diagnostic procedure used to investigate 17 patients with DEE or EE with previous negative or inconclusive genetic testing by whole-exome sequencing (WES), leading to a definite diagnosis in about 59% of participants. Biallelic mutations caused most of the diagnosed cases (50%), and a pathogenic somatic mutation resulted in 10% of the subjects. The high diagnostic yield reached highlights the relevance of the scientific approach, the importance of the reverse phenotyping strategy, and the involvement of a dedicated multidisciplinary team. The study emphasizes the role of recessive and somatic variants, new genetic mechanisms, and the complexity of genotype–phenotype associations. In older patients, WES results could end invasive diagnostic procedures and allow a more accurate transition. Finally, an early pursued diagnosis is essential for comprehensive care of patients, precision approach, knowledge of prognosis, patient and family planning, and quality of life.
  • GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
    Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio D'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia
    Haematologica, 2022
    Not available.
  • Could the MED13 mutations manifest as a Kabuki-like syndrome?
    Laura De Nardi, Flavio Faletra, Adamo Pio D'Adamo, Anna Monica Rosaria Bianco, Emmanouil Athanasakis, Irene Bruno, Egidio Barbi
    American Journal of Medical Genetics Part A, 2021
    MED13‐related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8‐kinase module genes‐associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13‐year‐old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13‐related condition and to explore differences and similarities between KS spectrum and MED13‐related disorders.
  • Notch signaling regulation in autoinflammatory diseases
    Rossella Gratton, Paola Maura Tricarico, Adamo Pio d'Adamo, Anna Monica Bianco, Ronald Moura, Almerinda Agrelli, Lucas Brandão, Luisa Zupin, Sergio Crovella
    International Journal of Molecular Sciences, 2020
    Notch pathway is a highly conserved intracellular signaling route that modulates a vast variety of cellular processes including proliferation, differentiation, migration, cell fate and death. Recently, the presence of a strict crosstalk between Notch signaling and inflammation has been described, although the precise molecular mechanisms underlying this interplay have not yet been fully unravelled. Disruptions in Notch cascade, due both to direct mutations and/or to an altered regulation in the core components of Notch signaling, might lead to hypo- or hyperactivation of Notch target genes and signaling molecules, ultimately contributing to the onset of autoinflammatory diseases. To date, alterations in Notch signaling have been reported as associated with three autoinflammatory disorders, therefore, suggesting a possible role of Notch in the pathogenesis of the following diseases: hidradenitis suppurativa (HS), Behçet disease (BD), and giant cell arteritis (GCA). In this review, we aim at better characterizing the interplay between Notch and autoinflammatory diseases, trying to identify the role of this signaling route in the context of these disorders.
  • High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
    Adamo Pio d’Adamo, Anna Monica Bianco, Giovanna Ferrara, Martina La Bianca, Antonella Insalaco, Alberto Tommasini, Manuela Pardeo, Marco Cattalini, Francesco La Torre, Martina Finetti, Clotilde Alizzi, Gabriele Simonini, Virginia Messia, Serena Pastore, Rolando Cimaz, Marco Gattorno, Andrea Taddio, and
    Pediatric Rheumatology, 2020
    Background FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO). Methods The coding regions of FBLIM1 gene were sequenced in a cohort of 80 patients with CNO using DNA extracted from blood lymphocytes, and PCR products were sequenced. Only rare (global MAF < 2%), coding variants detected were considered. Clinical evaluation of patients with rare variants and those without was performed. Fisher’s exact test was used to compare categorical and ordinal data, and Student’s t-test was used to analyze continuous data. Results Eighteen out of 80 patients (~ 22%) presented at least one rare coding variant in FBLIM1. Eight patients presented a variant never associated before with CNO. All patients presented classical features of CNO and no statistical difference between patients with presence of FBLMI1 variants and those without were found in terms of clinical manifestation, treatment, and outcome. Conclusion Considering the high frequency of rare variants in our CNO cohort, our data seem to confirm a possible role of FBLIM1 in the pathogenesis of CNO suggesting that CNO is a disorder of chronic inflammation and imbalanced bone remodeling.
  • Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience
    Sara Lega, Alessia Pin, Serena Arrigo, Cristina Cifaldi, Martina Girardelli, Anna Monica Bianco, Monica Malamisura, Giulia Angelino, Simona Faraci, Francesca Rea, Erminia Francesca Romeo, Marina Aloi, Claudio Romano, Arrigo Barabino, Stefano Martelossi, Alberto Tommasini, Gigliola Di Matteo, Caterina Cancrini, Paola De Angelis, Andrea Finocchi, Matteo Bramuzzo
    Inflammatory Bowel Diseases, 2020
  • Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes
    Elisa Piscianz, Ester Conversano, Anna Monica Bianco, Flavio Faletra, Alberto Tommasini, Erica Valencic
    Inflammation Research, 2019
  • The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma
    Federico Verzegnassi, Erica Valencic, Valentina Kiren, Nagua Giurici, Anna Monica Bianco, Annalisa Marcuzzi, Diego Vozzi, Alberto Tommasini, Flavio Faletra
    Journal of Pediatric Hematology Oncology, 2018
  • Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
    Martina Girardelli, Claudia Loganes, Alessia Pin, Elisabetta Stacul, Eva Decleva, Diego Vozzi, Gabriele Baj, Costantino De Giacomo, Alberto Tommasini, Anna Monica Bianco
    Inflammatory Bowel Diseases, 2018
  • Genetic profile of patients with early onset inflammatory bowel disease
    Martina Girardelli, Federica Basaldella, Sara Della Paolera, Josef Vuch, Alberto Tommasini, Stefano Martelossi, Sergio Crovella, Anna Monica Bianco
    Gene, 2018
  • Type i interferon-mediated autoinflammation due to DNase II deficiency
    Mathieu P. Rodero, Alessandra Tesser, Eva Bartok, Gillian I. Rice, Erika Della Mina, Marine Depp, Benoit Beitz, Vincent Bondet, Nicolas Cagnard, Darragh Duffy, Michael Dussiot, Marie-Louise Frémond, Marco Gattorno, Flavia Guillem, Naoki Kitabayashi, Fabrice Porcheray, Frederic Rieux-Laucat, Luis Seabra, Carolina Uggenti, Stefano Volpi, Leo A H. Zeef, Marie-Alexandra Alyanakian, Jacques Beltrand, Anna Monica Bianco, Nathalie Boddaert, Chantal Brouzes, Sophie Candon, Roberta Caorsi, Marina Charbit, Monique Fabre, Flavio Faletra, Muriel Girard, Annie Harroche, Evelyn Hartmann, Dominique Lasne, Annalisa Marcuzzi, Bénédicte Neven, Patrick Nitschke, Tiffany Pascreau, Serena Pastore, Capucine Picard, Paolo Picco, Elisa Piscianz, Michel Polak, Pierre Quartier, Marion Rabant, Gabriele Stocco, Andrea Taddio, Florence Uettwiller, Erica Valencic, Diego Vozzi, Gunther Hartmann, Winfried Barchet, Olivier Hermine, Brigitte Bader-Meunier, Alberto Tommasini, Yanick J. Crow
    Nature Communications, 2017
  • Altered pattern of tumor necrosis factor-Alpha production in peripheral blood monocytes from Crohn's disease basic study
    Claudia Loganes, Alessia Pin, Samuele Naviglio, Martina Girardelli, Anna Monica Bianco, Stefano Martelossi, Alberto Tommasini, Elisa Piscianz
    World Journal of Gastroenterology, 2016
  • Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression
    Anselmo J. Kamada, Anna M. Bianco, Luisa Zupin, Martina Girardelli, Maria C. C. Matte, Rúbia Marília de Medeiros, Sabrina Esteves de Matos Almeida, Marineide M. Rocha, Ludovica Segat, José A. B. Chies, Louise Kuhn, Sergio Crovella
    Journal of Acquired Immune Deficiency Syndromes, 2016
  • Putative modifier genes in mevalonate kinase deficiency
    ANNALISA MARCUZZI, DIEGO VOZZI, MARTINA GIRARDELLI, PAOLA MAURA TRICARICO, ALESSANDRA KNOWLES, SERGIO CROVELLA, JOSEF VUCH, ALBERTO TOMMASINI, ELISA PISCIANZ, ANNA MONICA BIANCO
    Molecular Medicine Reports, 2016
  • Iron signature in asbestos-induced malignant pleural mesothelioma: A population-based autopsy study
    Sergio Crovella, Anna Monica Bianco, Joseph Vuch, Luisa Zupin, Ronald Rodrigues Moura, Elisa Trevisan, Manuela Schneider, Alessandro Brollo, Enza Maria Nicastro, Alessandro Cosenzi, Giuliano Zabucchi, Violetta Borelli
    Journal of Toxicology and Environmental Health Part A Current Issues, 2016
  • The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency
    Martina Girardelli, Serena Arrigo, Arrigo Barabino, Claudia Loganes, Giuseppe Morreale, Sergio Crovella, Alberto Tommasini, Anna Monica Bianco
    BMC Pediatrics, 2015
  • Genetics of inflammatory bowel disease from multifactorial to monogenic forms
    Anna Monica Bianco
    World Journal of Gastroenterology, 2015
  • Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results
    ANNA MONICA BIANCO, FLAVIO FALETRA, DIEGO VOZZI, MARTINA GIRARDELLI, ALESSANDRA KNOWLES, ALBERTO TOMMASINI, GIORGIO ZAULI, ANNALISA MARCUZZI
    Molecular Medicine Reports, 2015
  • Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
    Vassilios Lougaris, Flavio Faletra, Gaetana Lanzi, Diego Vozzi, Annalisa Marcuzzi, Erica Valencic, Elisa Piscianz, AnnaMonica Bianco, Martina Girardelli, Manuela Baronio, Claudia Loganes, Anders Fasth, Filippo Salvini, Antonino Trizzino, Daniele Moratto, Fabio Facchetti, Silvia Giliani, Alessandro Plebani, Alberto Tommasini
    Clinical Immunology, 2015
  • Genetic profiling of autoinflammatory disorders in patients with periodic fever: A prospective study
    Carlo De Pieri, Josef Vuch, Eleonora De Martino, Anna M Bianco, Luca Ronfani, Emmanouil Athanasakis, Barbara Bortot, Sergio Crovella, Andrea Taddio, Giovanni M Severini, Alberto Tommasini
    Pediatric Rheumatology, 2015
  • Curcumin and inflammatory bowel disease: Potential andlimits of innovative treatments
    Liza Vecchi Brumatti, Annalisa Marcuzzi, Paola Tricarico, Valentina Zanin, Martina Girardelli, Anna Bianco
    Molecules, 2014
  • Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: Causal or chance association?
    Martina Girardelli, Josef Vuch, Alberto Tommasini, Sergio Crovella, Anna Bianco
    International Journal of Molecular Sciences, 2014
  • Mevalonate kinase deficiency and IBD: Shared genetic background
    Anna Monica Bianco, Martina Girardelli, Diego Vozzi, Sergio Crovella, Giulio Kleiner, Annalisa Marcuzzi
    Gut, 2014
  • Unusual splice site mutations disrupt FANCA exon 8 definition
    Chiara Mattioli, Giulia Pianigiani, Daniela De Rocco, Anna Monica Rosaria Bianco, Enrico Cappelli, Anna Savoia, Franco Pagani
    Biochimica Et Biophysica Acta Molecular Basis of Disease, 2014
  • F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls
    Clinical and Experimental Rheumatology, 2014
  • DEFB1 gene 5' untranslated region (UTR) polymorphisms are marginally involved in inflammatory bowel disease in south Brazilians
    T. J. Wilson, M. Jobim, L. Segat, A. M. Bianco, P. H. Salim, P. Portela, L. F. Jobim, D. C. Damin, G. Schwartsmann, R. Roesler, S. Crovella
    International Journal of Immunogenetics, 2014
  • A comparative analysis of serologic parameters and oxidative stress in osteoarthritis and rheumatoid arthritis: Reply to Mishra and colleagues
    M. Girardelli, A. M. Bianco, A. Marcuzzi, S. Crovella
    Rheumatology International, 2013
  • Database tools in genetic diseases research
    Anna Monica Bianco, Annalisa Marcuzzi, Valentina Zanin, Martina Girardelli, Josef Vuch, Sergio Crovella
    Genomics, 2013
  • Evolutionary hypothesis of the Mevalonate Kinase Deficiency
    J. Vuch, A. Marcuzzi, A.M. Bianco, A. Tommasini, V. Zanin, S. Crovella
    Medical Hypotheses, 2013
  • Family history in early-onset inflammatory bowel disease
    Anna Monica Bianco, Valentina Zanin, Lorenzo Monasta, Stefano Martelossi, Annalisa Marcuzzi, Sergio Crovella
    Journal of Gastroenterology, 2013
  • Genetic and functional profiling of Crohn's disease: Autophagy mechanism and susceptibility to infectious diseases
    Annalisa Marcuzzi, Anna Monica Bianco, Martina Girardelli, Alberto Tommasini, Stefano Martelossi, Lorenzo Monasta, Sergio Crovella
    Biomed Research International, 2013
  • Letter: Inflammatory bowel disease, complementary and alternative medicine, and genetics
    A. M. Bianco, J. Vuch, M. Girardelli, V. Zanin, A. Marcuzzi, S. Crovella
    Alimentary Pharmacology and Therapeutics, 2012
  • The effect of clodronate on a mevalonate kinase deficiency cellular model
    Valentina Zanin, Annalisa Marcuzzi, Elisa Piscianz, Josef Vuch, Anna Monica Bianco, Lorenzo Monasta, Giuliana Decorti, Sergio Crovella
    Inflammation Research, 2012
  • Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line
    Annalisa Marcuzzi, Valentina Zanin, Elisa Piscianz, Paola Maura Tricarico, Josef Vuch, Martina Girardelli, Lorenzo Monasta, Anna Monica Bianco, Sergio Crovella
    International Journal of Developmental Neuroscience, 2012
  • Serum amyloid A and cholesterol: A pivotal role on inflammation
    Paola Maura Tricarico, Annalisa Marcuzzi, Valentina Zanin, Giulio Kleiner, Anna Monica Bianco, Sergio Crovella
    Amyloid, 2012
  • Corrigendum to "A common genetic background could explain Early-Onset Crohn's disease" [Medical Hypotheses 78 (2012) 520-522]
    Anna Monica Bianco, Valentina Zanin, Martina Girardelli, Andrea Magnolato, Stefano Martelossi, Alberto Tommasini, Annalisa Marcuzzi, Sergio Crovella
    Medical Hypotheses, 2012
  • DEFB1 gene 59 untranslated region (UTR) polymorphisms in inflammatory bowel diseases
    Valentina Zanin, Ludovica Segat, Anna Monica Bianco, Lara Padovan, Nathalia de Alencar Cunha Tavares, Sergio Crovella
    Clinics, 2012
  • A common genetic background could explain early-onset Crohn's disease
    Anna Monica Bianco, Valentina Zanin, Martina Girardelli, Andrea Magnolato, Stefano Martellossi, Alberto Tommasini, Annalisa Marcuzzi, Sergio Crovella
    Medical Hypotheses, 2012
  • Letter to the Editor
    Anna Monica Bianco, Valentina Zanin, Annalisa Marcuzzi, Sergio Crovella
    Cell Biochemistry and Function, 2012
  • Clarification of the pleiotropic effects of statins on mevalonate pathway and the feedback regulation of isoprenoids requires more comprehensive investigation.
    Cell Biochemistry and Function, 2012
  • Inflammation profile of four early onset crohn patients
    Annalisa Marcuzzi, Martina Girardelli, Anna Monica Bianco, Stefano Martelossi, Andrea Magnolato, Alberto Tommasini, Sergio Crovella
    Gene, 2012
  • A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect
    Silvia Vettore, Daniela De Rocco, Bernhard Gerber, Raffaella Scandellari, Anna Monica Bianco, Carlo L. Balduini, Alessandro Pecci, Fabrizio Fabris, Anna Savoia
    European Journal of Medical Genetics, 2010
  • Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate
    Luca Scapoli, Marcella Martinelli, Furio Pezzetti, Annalisa Palmieri, Ambra Girardi, Anna Savoia, Anna Monica Bianco, Francesco Carinci
    Human Mutation, 2010
  • A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia
    A Borriello, A Locasciulli, A M Bianco, M Criscuolo, V Conti, P Grammatico, S Cappellacci, A Zatterale, F Morgese, V Cucciolla, D Delia, F Della Ragione, A Savoia
    Leukemia, 2007
  • Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.
    Maria Savino, Adriana Borriello, Maria d'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante, Hans Joenje, Fulvio Della Ragione, Anna Savoia
    Human Mutation, 2003
  • LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
    Rosario Liguori, Anna Monica Bianco, Anagnostis Argiriou, Paolo Pauciullo, Alessandro Giannino, Paolo Rubba, Vincenzo De Simone
    Human Mutation, 2001