List of works - Elisa Fermo

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

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

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

Chromosome 7q31.1 deletion in myeloid neoplasms.

scientific article

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

scientific article published on 18 July 2008

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

scientific article

Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib.

scientific article

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

scientific article published in September 2009

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics ⬇️

scientific article published on November 4, 2011

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

Gardos channelopathy: functional analysis of a novel KCNN4 variant

scientific article published on 01 December 2020

HIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms

scientific article

Hematological, molecular and cytokine changes after reduced intensity bone marrow transplantation for paroxysmal nocturnal hemoglobinuria

scientific article published on 01 November 2007

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 erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.

scientific article

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

Imatinib and ruxolitinib association: first experience in two patients

scientific article published on 14 March 2014

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

scientific article published in May 2001

Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis.

scientific article published on 8 November 2014

Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations

scientific article published in May 2008

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

Pyruvate kinase deficiency

scientific article published on 01 June 2007

Pyruvate kinase deficiency: the genotype-phenotype association.

scientific article published on 13 March 2007

RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant.

scientific article published on 6 April 2010

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

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

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

article

List of works by Elisa Fermo

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

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.

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

Chromosome 7q31.1 deletion in myeloid neoplasms.

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

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

Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib.

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

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics ⬇️

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

Gardos channelopathy: functional analysis of a novel KCNN4 variant

HIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms

Hematological, molecular and cytokine changes after reduced intensity bone marrow transplantation for paroxysmal nocturnal hemoglobinuria

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

Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.

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

Hereditary red cell membrane defects: diagnostic and clinical aspects

Imatinib and ruxolitinib association: first experience in two patients

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

Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis.

Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations

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

Pyruvate kinase deficiency

Pyruvate kinase deficiency: the genotype-phenotype association.

RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant.

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

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

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