List of works - Paola Bianchi

'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation

scientific article

A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

scientific article published on 5 January 2018

A Case of Hereditary Spherocytosis Misdiagnosed as Pyruvate Kinase Deficient Hemolytic Anemia

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency

article

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia

scientific article published on 01 April 1999

A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis

scientific article published on 16 August 2008

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia

scientific article

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

scientific article published on 30 May 2012

A novel HLA-DRB1 allele, DRB1*0707.

scientific article published in March 2003

A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice

scientific article

A nucleotide deletion in exon 4 is responsible for an HLA-A null allele (A*0105N).

scientific article published in September 1999

A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis

article

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

scientific article published on 28 November 2018

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

scientific article published on 29 July 2016

Biological and molecular characterization of PNH-like lymphocytes emerging after Campath-1H therapy.

scientific article published in March 2001

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

scientific article published on 09 April 2010

Cerebellar atrophy in a child with hereditary methemoglobinemia type II.

scientific article

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

scientific article published on 09 August 2013

Characterization of a new HLA-DRB5 allele (DRB5*0105) by PCR-SSP and direct sequencing

scientific article published in April 1996

Characterization of two new HLA-B alleles by sequence-based typing: HLA-B0817 and HLA-B1311

scientific article published on 01 July 2003

Chromosome 7q31.1 deletion in myeloid neoplasms.

scientific article

Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria

scientific article

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene

scientific article published in September 2009

Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis

scientific article published on 10 August 2015

Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis.

scientific article published on 19 March 2015

Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report

scientific article published on May 2016

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

scientific article

Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia

scientific article

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

scientific article published on 11 February 2020

Hematologically important mutations: red cell pyruvate kinase (1st update).

scientific article published in January 1996

Hematologically important mutations: red cell pyruvate kinase (Third update).

scientific article published in February 2000

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

scientific article published on 6 March 2017

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

scientific article

Hereditary red cell membrane defects: diagnostic and clinical aspects

scientific article published on 13 January 2011

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

scientific article published in November 2001

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

scientific article published on 18 March 2015

Identification of HLA-B*5108 using polymerase chain reaction with sequence-specific primers or sequence-specific oligonucleotide probes and sequencing

scientific article published in August 1997

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia

article

Identification of a novel HLA-B allele--HLA-B*4902.

scientific article published in February 2001

Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia

article

Increased prevalence of autoimmune phenomena in myelofibrosis: relationship with clinical and morphological characteristics, and with immunoregulatory cytokine patterns.

scientific article

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation

scientific article published on 03 March 2019

Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases

scientific article published in May 2001

JAK2-mutated langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib

scientific article published on 28 October 2017

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency

scientific article

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients

scientific article published in April 2001

Molecular heterogeneity of pyruvate kinase deficiency

scientific article published on 23 July 2020

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

scientific article published in 2012

Prenatal diagnosis for a novel homozygous mutation inPKLR gene in an Indian family

article

Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients

scientific article published on 5 July 2016

Pulmonary arterial hypertension in primary myelofibrosis is common and associated with an altered angiogenic status

scientific article published on 13 September 2007

Pyruvate kinase deficiency

scientific article published on 01 June 2007

Pyruvate kinase deficiency: the genotype-phenotype association.

scientific article published on 13 March 2007

Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning

scientific article published on 05 July 2020

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene

scientific article published on 17 March 2008

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

scientific article published in June 2005

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

article

Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency

scientific article

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts

scientific article published on 31 May 2016

Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene

scientific article published on 23 July 2011

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

scientific article

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

scientific article published on 16 March 2018

The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia

scientific article published in September 2008

Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII

scientific article published on 14 March 2018

Transient elastography spleen stiffness measurements in primary myelofibrosis patients: a pilot study in a single centre.

scientific article

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

article

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

scientific article published on 14 December 2017

List of works by Paola Bianchi

'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation

A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

A Case of Hereditary Spherocytosis Misdiagnosed as Pyruvate Kinase Deficient Hemolytic Anemia

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia

A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

A novel HLA-DRB1 allele, DRB1*0707.

A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice

A nucleotide deletion in exon 4 is responsible for an HLA-A null allele (A*0105N).

A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Biological and molecular characterization of PNH-like lymphocytes emerging after Campath-1H therapy.

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

Cerebellar atrophy in a child with hereditary methemoglobinemia type II.

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Characterization of a new HLA-DRB5 allele (DRB5*0105) by PCR-SSP and direct sequencing

Characterization of two new HLA-B alleles by sequence-based typing: HLA-B*0817 and HLA-B*1311

Chromosome 7q31.1 deletion in myeloid neoplasms.

Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene

Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis

Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis.

Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Hematologically important mutations: red cell pyruvate kinase (1st update).

Hematologically important mutations: red cell pyruvate kinase (Third update).

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

Hereditary red cell membrane defects: diagnostic and clinical aspects

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

Identification of HLA-B*5108 using polymerase chain reaction with sequence-specific primers or sequence-specific oligonucleotide probes and sequencing

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia

Identification of a novel HLA-B allele--HLA-B*4902.

Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia

Increased prevalence of autoimmune phenomena in myelofibrosis: relationship with clinical and morphological characteristics, and with immunoregulatory cytokine patterns.

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation

Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases

JAK2-mutated langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients

Molecular heterogeneity of pyruvate kinase deficiency

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

Prenatal diagnosis for a novel homozygous mutation inPKLR gene in an Indian family

Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients

Pulmonary arterial hypertension in primary myelofibrosis is common and associated with an altered angiogenic status

Pyruvate kinase deficiency

Pyruvate kinase deficiency: the genotype-phenotype association.

Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts

Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia

Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII

Transient elastography spleen stiffness measurements in primary myelofibrosis patients: a pilot study in a single centre.

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

Characterization of two new HLA-B alleles by sequence-based typing: HLA-B0817 and HLA-B1311