Lista de obras - Anna Savoia - Dominio Público Uruguay

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

artículo científico publicado en 2010

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

artículo científico publicado en 2017

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

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

scientific article published on 23 October 2018

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

ANKRD26-related thrombocytopenia and myeloid malignancies

artículo científico publicado en 2013

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome

artículo científico publicado en 2015

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

article

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

artículo científico publicado en 2012

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

artículo científico publicado en 1999

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

artículo científico publicado en 2014

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

artículo científico publicado en 2006

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

artículo científico publicado en 1998

Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3

artículo científico publicado en 1999

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene ⬇️

artículo científico publicado el 1 de agosto de 1995

Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA.

artículo científico publicado en 2007

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

artículo científico publicado en 2010

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

artículo científico publicado en 2011

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

artículo científico publicado en 2016

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

artículo científico publicado en 2015

Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes

artículo científico publicado en 2002

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene

artículo científico publicado en 2002

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

artículo científico publicado en 2007

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

artículo científico publicado en 1998

Cord blood in vitro expanded CD41 cells: identification of novel components of megakaryocytopoiesis

artículo científico publicado en 2006

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

artículo científico publicado en 2012

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

scientific journal article

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

artículo científico publicado en 1990

Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

artículo científico publicado en 2009

EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)

article

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

artículo científico publicado en 2010

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

artículo científico publicado en 2001

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

artículo científico publicado en 1996

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

artículo científico publicado en 2013

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions

artículo científico publicado en 1998

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

artículo científico publicado en 1989

Frequency Distribution of the Alleles of Several Variable Number of Tandem Repeat DNA Polymorphisms in the Italian Population

article

Genetics of familial forms of thrombocytopenia

artículo científico publicado en 2012

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

artículo científico publicado en 2015

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

artículo científico publicado en 2010

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

artículo científico publicado en 2017

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

artículo científico publicado en 2009

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

artículo científico publicado en 2002

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

artículo científico publicado en 2017

Inherited thrombocytopenias frequently diagnosed in adults

artículo científico publicado en 2013

Inherited thrombocytopenias: molecular mechanisms

artículo científico publicado en 2004

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

artículo científico publicado en 2012

Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate

article

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

article

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations

artículo científico publicado en 1989

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

artículo científico publicado en 1995

MYH9 gene mutations associated with bleeding.

artículo científico publicado en 2017

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

artículo científico publicado en 2009

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

scientific article published on 11 July 2018

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

artículo científico publicado en 2003

MYH9-related disease: Report on five German families and description of a novel mutation

article

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

artículo científico publicado en 2013

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

artículo científico publicado en 2012

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

artículo científico publicado en 2012

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

artículo científico publicado en 2018

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

artículo científico publicado en 2009

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

artículo científico publicado en 2014

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein

artículo científico publicado en 2001

Molecular basis of inherited thrombocytopenias

artículo científico publicado en 2015

Molecular basis of inherited thrombocytopenias: an update

artículo científico publicado en 2016

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

artículo científico publicado en 2016

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

artículo científico publicado en 1999

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).

artículo científico publicado en 1998

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

artículo científico publicado en 2000

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations of RUNX1 in families with inherited thrombocytopenia.

artículo científico publicado en 2017

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

artículo científico publicado en 2013

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients

artículo científico publicado en 1997

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

artículo científico publicado en 2015

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

artículo científico publicado en 2004

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

artículo científico publicado en 2005

Phosphatase inhibitors activate normal and defective CFTR chloride channels ⬇️

artículo científico publicado el 13 de septiembre de 1994

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

artículo científico publicado en 2014

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

article

Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells

artículo científico publicado en 2014

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

artículo científico publicado en 2008

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

artículo científico publicado en 2014

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

artículo científico publicado en 2011

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian A

article

Spectrum of the mutations in Bernard-Soulier syndrome

artículo científico publicado en 2014

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

article

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

artículo científico publicado en 2000

The genomic organization of the Fanconi anemia group A (FAA) gene

artículo científico publicado en 1997

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

artículo científico publicado en 1991

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

artículo científico publicado en 2017

Unexplained recurrent venous thrombosis in a patient withMYH9-related disease

scholarly article by Paula G. Heller et al published January 2006 in Platelets

Unusual splice site mutations disrupt FANCA exon 8 definition

artículo científico publicado en 2014

Lista de obras de Anna Savoia

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 new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

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

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

ANKRD26-related thrombocytopenia and myeloid malignancies

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene ⬇️

Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA.

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

Cord blood in vitro expanded CD41 cells: identification of novel components of megakaryocytopoiesis

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

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

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

Frequency Distribution of the Alleles of Several Variable Number of Tandem Repeat DNA Polymorphisms in the Italian Population

Genetics of familial forms of thrombocytopenia

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Inherited thrombocytopenias frequently diagnosed in adults

Inherited thrombocytopenias: molecular mechanisms

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

MYH9 gene mutations associated with bleeding.

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

MYH9-related disease: Report on five German families and description of a novel mutation

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein

Molecular basis of inherited thrombocytopenias

Molecular basis of inherited thrombocytopenias: an update

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Mutations of RUNX1 in families with inherited thrombocytopenia.

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients