IRIS
CAMASCHELLA, CLARA
 Distribuzione geografica
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Continente #
EU - Europa 948
NA - Nord America 637
AS - Asia 402
AF - Africa 8
OC - Oceania 3
SA - Sud America 3
Totale 2.001
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Nazione #
SE - Svezia 643
US - Stati Uniti d'America 631
CN - Cina 189
SG - Singapore 157
RU - Federazione Russa 151
IT - Italia 45
IE - Irlanda 36
IN - India 32
FI - Finlandia 31
DE - Germania 19
JP - Giappone 8
PK - Pakistan 7
CA - Canada 5
GB - Regno Unito 5
EG - Egitto 4
NL - Olanda 4
PL - Polonia 4
EE - Estonia 3
JO - Giordania 3
AU - Australia 2
FR - Francia 2
IL - Israele 2
KE - Kenya 2
PE - Perù 2
AE - Emirati Arabi Uniti 1
BA - Bosnia-Erzegovina 1
BR - Brasile 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GR - Grecia 1
HK - Hong Kong 1
HU - Ungheria 1
IS - Islanda 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
TN - Tunisia 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 2.001
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Città #
Lawrence 180
Princeton 180
Ashburn 110
Shanghai 108
Singapore 85
Moscow 57
New York 53
Dublin 36
Pune 31
Helsinki 30
Milan 23
Dallas 13
Seattle 9
Los Angeles 8
Guangzhou 7
Beijing 5
Jiaxing 5
Shenzhen 5
Wuxi 5
Boardman 4
Tokyo 4
Washington 4
Amman 3
Fuzhou 3
Hanover 3
London 3
Tallinn 3
Alexandria 2
Boston 2
Correggio 2
Faisalabad 2
Gatchina 2
Haastrecht 2
Lima 2
Linfen 2
Munich 2
Nanjing 2
Perth 2
Poznan 2
Quanzhou 2
Rickmansworth 2
Santa Clara 2
St Petersburg 2
Stockholm 2
Tel Aviv 2
Toronto 2
Witnica 2
Amagasaki 1
Ancona 1
Andover 1
Athens 1
Berlin 1
Borås 1
Brescia 1
Cagliari 1
Cairo 1
Chengdu 1
Curitiba 1
Drinovci 1
Genova 1
Hamamatsu 1
Huzhou 1
Lappeenranta 1
Modena 1
Naaldwijk 1
Nairobi 1
Napoli 1
Odense 1
Ottawa 1
Padova 1
Pattoki 1
Pinehaven 1
Reggio Emilia 1
Reykjavik 1
Riyadh 1
Rockville 1
Rome 1
Saint-nicolas 1
San Francisco 1
San Lazzaro di Savena 1
Santa Rosa 1
Sopron 1
Syracuse 1
Tashkent 1
Vaprio d'Adda 1
Verona 1
Xi'an 1
Xuzhou 1
Yangquan 1
Yokkaichi 1
Totale 1.060
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Nome #
Iron-Deficiency Anemia 38
Iron-deficiency anemia 23
Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis. 21
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract 20
NCOA4-mediated ferritinophagy in macrophages is crucial to sustain erythropoiesis in mice 20
Iron increases the susceptibility of multiple myeloma cells to bortezomib 19
A new G51C mutation in the IRE of L-ferritin in hyperferritinemia cataract syndrome decreases the binding affinity of the mutant IRE to IRP. 19
Iron and hepcidin: a story of recycling and balance. 18
A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia 18
G gamma and A gamma globin chains separation and quantitation by isoelectric focusing 18
The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. 17
Circulating 'trophoblast' cells in pregnancy have maternal genetic markers 17
A -25G>A hepcidin promoter mutation in a Portuguese patient with juvenile hemochromatosis, Turner syndrome and severe lymphopenia 17
Two to tango: regulation of Mammalian iron metabolism 16
A potential pathogenetic role of iron in Alzheimer's disease 16
G gamma and a gamma globin chain synthesis in bone marrow and peripheral blood of beta-thalassaemia homozygotes. 16
Iron Induces Cell Death and Strengthens the Efficacy of Antiandrogen Therapy in Prostate Cancer Models 16
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA) 15
DEFECTIVE TARGETING OF HEMOJUVELIN TO PLASMA MEMBRANE IS A COMMON PATHOGENETIC MECHANISM IN JUVENILE HEMOCHROMATOSIS 15
Haemochromatosis in patients with b-thalassemia trait 15
New Mutations inactivating transferring receptor 2 in Hemochromatosis type 3 15
BMP6 orchestrates iron metabolism 15
A new mutation in the IRE of L-ferritin (G51C) associated with hyperferritinemia-cataract syndrome decreases the binding affinity of IRE to IRPS 15
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload 15
Molecular characterization and functional studies on Hb Kempsey, beta 99 (G-1) ASP->ASN, a high-oxygen affinity variant 15
Correction: Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Stydy. 15
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype studies 15
Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter. 15
Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci 14
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 14
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch 14
Identification of TMPRSS6 cleavage sites of hemojuvelin 14
Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders 14
Molecular characterization of Black HPFH type I in a patient from Cuba 14
The second transferrin receptor regulates red blood cell production in mice 14
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients 14
A newly characterized alpha-thalassemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family 14
Molecular characterization and hematological phenotype of Sicilian delta beta-thalassemia 14
Polarization dictates iron handling by inflammatory and alternatively activated macrophages 14
Genetic and clinical heterogeneity of ferroportin disease 13
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 13
Dilemmas and Progress in Mutation Detection 13
Italian type of deletional hereditary persistence of fetal hemoglobin. 13
Screening for hemochromatosis selected blood donors with biochemical iron overload: a regional experience 13
Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient 13
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response 13
gamma chain composition in five Italian newborns heterozygous for Hb F Malta G gamma-117 His leads to Arg. 13
A valine deletion of ferroportin 1 is a common mutation in hemochromatosis type 4 13
The homozygous state for the -87 C----G beta + thalassaemia 13
Heterogeneity of Hemochromatosis in Italy 13
A new complex polymorphic repeat close to HLA-A and HLA-E loci 13
Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in beta thalassemic erythropoiesis 13
Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: Evidence from a murine model 13
Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice 13
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 13
Iron causes lipid oxidation and inhibits proteasome function in multiple myeloma cells: A proof of concept for novel combination therapies 13
Erythroblast apoptosis and microenvironmental iron restriction trigger anemia in the VK*MYC model of multiple myeloma 13
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. 13
New and old players in the hepcidin pathway 12
A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer 12
Genetic history of PKU mutations in Italy 12
Iron deficiency: new insights into diagnosis and treatment 12
Epcr 23 bp insertion in a patient with severe progressive arterial disease: a dominant loss of function mutant in conditions of increased apc request? 12
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 12
A spontaneous mutation causing unstable Hb Hammersmith: detection of the alpha 42 TTT->TCT change by CCM and direct sequencing 12
A novel missense mutation in the phenylalanine hydroxilase gene leading to complete loss of enzymatic activity 12
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein 12
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population 12
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations 12
Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia) 12
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population 12
Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes 12
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload 12
Bmp6 expression in murine liver non parenchymal cells: A mechanisms to control their high iron exporter activity and protect hepatocytes from iron overload? 12
Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis 12
Furin mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis 12
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 12
Ineffective erythropoiesis and regulation of iron status in iron loading anaemias. 12
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin 12
Meta-GWAS and meta-analysis of exome array studies do not reveal genetic determinants of serum hepcidin 12
Thoracic extramedullary hematopoiesis in thalassemia intermedia during adult life: a report of 9 cases. 12
Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia 12
A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. 12
A unique origin for the Sicilian (deltabeta)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 12
TFR2-Related Hereditary Hemochromatosis 12
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship 12
Supplementary Data from Iron Induces Cell Death and Strengthens the Efficacy of Antiandrogen Therapy in Prostate Cancer Models 11
New TFR2 mutations in young Italian patients with hemochromatosis 11
Inherited HFE-unrelated hemochromatosis in italian families 11
The relationship between anemia, fecal stercobilinogen erythrocyte survival, and globin synthesis in heterozygotes for beta-thalassemia 11
Screening for mutations in the phenylalanine hydroxylase gene in Italian PKU patients using the Chemical cleavage method: a new splice mutation 11
Homozygosity for transferrin receptor2 y250x mutation induces early iron overload 11
How I treat unexplained refractory iron deficiency anemia 11
Towards explaining "unexplained hyperferritinemia" 11
Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis 11
A new mutation trans to I278T cystathionine beta-synthase associated with factor V Leiden causes mild homocystrinuria but severe vascular disease 11
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 11
Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis 11
Prenatal Diagnosis of fetal hemoglobin Lepore-Boston Disease on maternal peripheral blood 11
New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis 11
Totale 1.385
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Categoria #
all - tutte 41.798
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 41.798
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202 0 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
2023/2024388 5 3 8 98 28 97 12 40 1 12 22 62
2024/2025466 296 32 33 57 48 0 0 0 0 0 0 0
Totale 2.023