List of works - Anna Monica Rosaria Bianco

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

scientific article

A common genetic background could explain early-onset Crohn’s disease

scientific article published on 10 February 2012

A comparative analysis of serologic parameters and oxidative stress in osteoarthritis and rheumatoid arthritis: reply to Mishra and colleagues.

scientific article

A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia

article

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

scientific article

Curcumin and inflammatory bowel disease: potential and limits of innovative treatments.

scientific article

DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases

scientific article published in January 2012

DEFB1 gene 5′ untranslated region (UTR) polymorphisms are marginally involved in inflammatory bowel disease in south Brazilians

article

Database tools in genetic diseases research ⬇️

scientific article published on November 10, 2012

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience

scientific article published on 01 April 2020

Evolutionary hypothesis of the Mevalonate Kinase Deficiency

scientific article published on 17 November 2012

Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate

scientific article

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

scientific article published on 20 October 2014

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes

scientific article published on 29 August 2019

Family history in early-onset inflammatory bowel disease

Fever tree revisited: From malaria to autoinflammatory diseases

scientific article

Genetic and functional profiling of Crohn's disease: autophagy mechanism and susceptibility to infectious diseases

scientific article

Genetic profile of patients with early onset inflammatory bowel disease.

scientific article published on 14 December 2017

Genetic profiling of auto-inflammatory disorders in patients with periodic fever: a prospective study.

scientific article published on 17 September 2014

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

scientific article

Genetics of inflammatory bowel disease from multifactorial to monogenic forms

scientific article

Inflammation profile of four early onset Crohn patients

article

Iron signature in asbestos-induced malignant pleural mesothelioma: A population-based autopsy study.

scientific article published on 28 January 2016

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

article

Letter to the Editor

scientific article published on 24 January 2012

Letter: inflammatory bowel disease, complementary and alternative medicine, and genetics

article

Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line

scientific article

Mevalonate kinase deficiency and IBD: shared genetic background.

scientific article published on 14 February 2014

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype

scientific article

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

scientific article

Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression.

scientific article published on 13 February 2016

Putative modifier genes in mevalonate kinase deficiency.

scientific article published on 22 February 2016

Serum amyloid A and cholesterol: a pivotal role on inflammation

article published in 2012

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant

scientific article

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma

scientific article published on 23 November 2017

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

scientific article published on 14 March 2022

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency

scientific article published on 15 December 2015

The effect of clodronate on a mevalonate kinase deficiency cellular model

scientific article

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

scientific article published on 11 August 2015

Type I interferon-mediated autoinflammation due to DNase II deficiency

scientific article published on 19 December 2017

Unusual splice site mutations disrupt FANCA exon 8 definition

scientific article published on April 2014

List of works by Anna Monica Rosaria Bianco

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

A common genetic background could explain early-onset Crohn’s disease

A comparative analysis of serologic parameters and oxidative stress in osteoarthritis and rheumatoid arthritis: reply to Mishra and colleagues.

A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Curcumin and inflammatory bowel disease: potential and limits of innovative treatments.

DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases

DEFB1 gene 5′ untranslated region (UTR) polymorphisms are marginally involved in inflammatory bowel disease in south Brazilians

Database tools in genetic diseases research ⬇️

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience

Evolutionary hypothesis of the Mevalonate Kinase Deficiency

Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes

Family history in early-onset inflammatory bowel disease

Fever tree revisited: From malaria to autoinflammatory diseases

Genetic and functional profiling of Crohn's disease: autophagy mechanism and susceptibility to infectious diseases

Genetic profile of patients with early onset inflammatory bowel disease.

Genetic profiling of auto-inflammatory disorders in patients with periodic fever: a prospective study.

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

Genetics of inflammatory bowel disease from multifactorial to monogenic forms

Inflammation profile of four early onset Crohn patients

Iron signature in asbestos-induced malignant pleural mesothelioma: A population-based autopsy study.

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

Letter to the Editor

Letter: inflammatory bowel disease, complementary and alternative medicine, and genetics

Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line

Mevalonate kinase deficiency and IBD: shared genetic background.

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression.

Putative modifier genes in mevalonate kinase deficiency.

Serum amyloid A and cholesterol: a pivotal role on inflammation

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency

The effect of clodronate on a mevalonate kinase deficiency cellular model

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

Type I interferon-mediated autoinflammation due to DNase II deficiency

Unusual splice site mutations disrupt FANCA exon 8 definition