IRIS
CAMASCHELLA, CLARA
 Distribuzione geografica
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Continente #
EU - Europa 769
NA - Nord America 596
AS - Asia 82
AF - Africa 6
SA - Sud America 3
OC - Oceania 1
Totale 1.457
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Nazione #
SE - Svezia 641
US - Stati Uniti d'America 591
IE - Irlanda 36
IN - India 32
IT - Italia 31
FI - Finlandia 28
CN - Cina 27
DE - Germania 17
SG - Singapore 9
CA - Canada 5
GB - Regno Unito 5
JP - Giappone 4
PK - Pakistan 4
EG - Egitto 3
JO - Giordania 3
NL - Olanda 3
RU - Federazione Russa 3
EE - Estonia 2
IL - Israele 2
KE - Kenya 2
PE - Perù 2
BA - Bosnia-Erzegovina 1
BR - Brasile 1
DK - Danimarca 1
FR - Francia 1
HK - Hong Kong 1
NZ - Nuova Zelanda 1
TN - Tunisia 1
Totale 1.457
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Città #
Lawrence 180
Princeton 180
Ashburn 109
New York 52
Dublin 36
Pune 31
Helsinki 27
Shanghai 24
Milan 15
Seattle 9
Los Angeles 6
Washington 4
Amman 3
Boardman 3
Hanover 3
London 3
Alexandria 2
Boston 2
Haastrecht 2
Lima 2
Linfen 2
Rickmansworth 2
Tallinn 2
Tel Aviv 2
Toronto 2
Amagasaki 1
Ancona 1
Andover 1
Berlin 1
Borås 1
Brescia 1
Cagliari 1
Curitiba 1
Drinovci 1
Genova 1
Hamamatsu 1
Lappeenranta 1
Modena 1
Naaldwijk 1
Nairobi 1
Napoli 1
Odense 1
Ottawa 1
Padova 1
Pattoki 1
Pinehaven 1
Reggio Emilia 1
Rockville 1
Rome 1
Saint-nicolas 1
Santa Rosa 1
Vaprio d'Adda 1
Yangquan 1
Yokkaichi 1
Totale 732
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Nome #
Iron-Deficiency Anemia 31
Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis. 18
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract 17
NCOA4-mediated ferritinophagy in macrophages is crucial to sustain erythropoiesis in mice 17
G gamma and A gamma globin chains separation and quantitation by isoelectric focusing 15
A new mutation in the IRE of L-ferritin (G51C) associated with hyperferritinemia-cataract syndrome decreases the binding affinity of IRE to IRPS 14
A -25G>A hepcidin promoter mutation in a Portuguese patient with juvenile hemochromatosis, Turner syndrome and severe lymphopenia 14
A new G51C mutation in the IRE of L-ferritin in hyperferritinemia cataract syndrome decreases the binding affinity of the mutant IRE to IRP. 14
Iron increases the susceptibility of multiple myeloma cells to bortezomib 13
A potential pathogenetic role of iron in Alzheimer's disease 13
G gamma and a gamma globin chain synthesis in bone marrow and peripheral blood of beta-thalassaemia homozygotes. 13
A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia 13
New Mutations inactivating transferring receptor 2 in Hemochromatosis type 3 12
Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci 12
BMP6 orchestrates iron metabolism 12
Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders 12
Molecular characterization and functional studies on Hb Kempsey, beta 99 (G-1) ASP->ASN, a high-oxygen affinity variant 12
Iron Induces Cell Death and Strengthens the Efficacy of Antiandrogen Therapy in Prostate Cancer Models 12
DEFECTIVE TARGETING OF HEMOJUVELIN TO PLASMA MEMBRANE IS A COMMON PATHOGENETIC MECHANISM IN JUVENILE HEMOCHROMATOSIS 11
Two to tango: regulation of Mammalian iron metabolism 11
Haemochromatosis in patients with b-thalassemia trait 11
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 11
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload 11
The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. 11
Molecular characterization of Black HPFH type I in a patient from Cuba 11
The second transferrin receptor regulates red blood cell production in mice 11
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype studies 11
Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter. 11
Iron-deficiency anemia 11
Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice 11
Polarization dictates iron handling by inflammatory and alternatively activated macrophages 11
Genetic and clinical heterogeneity of ferroportin disease 10
Italian type of deletional hereditary persistence of fetal hemoglobin. 10
Homozygosity for transferrin receptor2 y250x mutation induces early iron overload 10
Screening for hemochromatosis selected blood donors with biochemical iron overload: a regional experience 10
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response 10
gamma chain composition in five Italian newborns heterozygous for Hb F Malta G gamma-117 His leads to Arg. 10
Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis 10
Iron and hepcidin: a story of recycling and balance. 10
A valine deletion of ferroportin 1 is a common mutation in hemochromatosis type 4 10
Correction: Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Stydy. 10
A newly characterized alpha-thalassemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family 10
Molecular characterization and hematological phenotype of Sicilian delta beta-thalassemia 10
Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: Evidence from a murine model 10
A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins 10
Iron causes lipid oxidation and inhibits proteasome function in multiple myeloma cells: A proof of concept for novel combination therapies 10
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA) 9
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 9
Dilemmas and Progress in Mutation Detection 9
A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer 9
Genetic history of PKU mutations in Italy 9
Iron deficiency: new insights into diagnosis and treatment 9
Identification of TMPRSS6 cleavage sites of hemojuvelin 9
How I treat unexplained refractory iron deficiency anemia 9
Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient 9
Epcr 23 bp insertion in a patient with severe progressive arterial disease: a dominant loss of function mutant in conditions of increased apc request? 9
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain 9
A spontaneous mutation causing unstable Hb Hammersmith: detection of the alpha 42 TTT->TCT change by CCM and direct sequencing 9
A novel missense mutation in the phenylalanine hydroxilase gene leading to complete loss of enzymatic activity 9
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein 9
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population 9
Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia) 9
Heterogeneity of Hemochromatosis in Italy 9
Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes 9
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients 9
Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis 9
Furin mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis 9
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia 9
Ineffective erythropoiesis and regulation of iron status in iron loading anaemias. 9
Thoracic extramedullary hematopoiesis in thalassemia intermedia during adult life: a report of 9 cases. 9
Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia 9
A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. 9
A unique origin for the Sicilian (deltabeta)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 9
Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in beta thalassemic erythropoiesis 9
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship 9
Erythroblast apoptosis and microenvironmental iron restriction trigger anemia in the VK*MYC model of multiple myeloma 9
Identification and characterization of the first C11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene. 9
New TFR2 mutations in young Italian patients with hemochromatosis 8
New and old players in the hepcidin pathway 8
Inherited HFE-unrelated hemochromatosis in italian families 8
The relationship between anemia, fecal stercobilinogen erythrocyte survival, and globin synthesis in heterozygotes for beta-thalassemia 8
Screening for mutations in the phenylalanine hydroxylase gene in Italian PKU patients using the Chemical cleavage method: a new splice mutation 8
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch 8
Circulating 'trophoblast' cells in pregnancy have maternal genetic markers 8
A new mutation trans to I278T cystathionine beta-synthase associated with factor V Leiden causes mild homocystrinuria but severe vascular disease 8
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations 8
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 8
The homozygous state for the -87 C----G beta + thalassaemia 8
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population 8
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload 8
Iron refractory iron deficiency anemia 8
Interaction of a rare illegitimate recombination event and poly A addition site -thalassemia.mutation resulting in a severe form of 8
Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis 8
Prenatal Diagnosis of fetal hemoglobin Lepore-Boston Disease on maternal peripheral blood 8
New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis 8
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin 8
Meta-GWAS and meta-analysis of exome array studies do not reveal genetic determinants of serum hepcidin 8
Molecular -thalassemia intermedia in patients of Italian descent andcharacterization of -thalassemia mutations.identification of three novel 8
A new complex polymorphic repeat close to HLA-A and HLA-E loci 8
Limiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated hepcidin suppression in mice. 8
Totale 1.020
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Categoria #
all - tutte 27.585
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 27.585
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203 1 0 0 0 0 0 0 0 1 0 1 0
2020/20213 0 0 0 0 0 2 1 0 0 0 0 0
2021/202288 0 0 0 52 5 2 3 9 0 3 5 9
2022/20231.060 397 273 58 3 4 130 38 82 62 1 9 3
2023/2024305 5 3 8 98 28 97 12 40 1 12 1 0
Totale 1.474