IRIS
DANESINO, CESARE
 Distribuzione geografica
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Continente #
NA - Nord America 5.636
EU - Europa 4.384
AS - Asia 2.933
OC - Oceania 25
AF - Africa 9
Continente sconosciuto - Info sul continente non disponibili 6
SA - Sud America 5
Totale 12.998
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Nazione #
US - Stati Uniti d'America 5.595
CN - Cina 2.822
IE - Irlanda 1.386
UA - Ucraina 855
FI - Finlandia 578
DE - Germania 423
IT - Italia 365
SE - Svezia 356
GB - Regno Unito 228
FR - Francia 97
SG - Singapore 50
BE - Belgio 41
CA - Canada 39
AU - Australia 16
IN - India 16
JP - Giappone 16
NL - Olanda 13
ES - Italia 9
NZ - Nuova Zelanda 9
IR - Iran 8
EU - Europa 6
RU - Federazione Russa 5
BD - Bangladesh 4
CH - Svizzera 4
CZ - Repubblica Ceca 4
MU - Mauritius 4
SM - San Marino 4
TR - Turchia 4
AT - Austria 3
RO - Romania 3
BR - Brasile 2
EC - Ecuador 2
EE - Estonia 2
EG - Egitto 2
IL - Israele 2
KR - Corea 2
MA - Marocco 2
MY - Malesia 2
SA - Arabia Saudita 2
AL - Albania 1
AM - Armenia 1
CO - Colombia 1
GR - Grecia 1
HK - Hong Kong 1
ID - Indonesia 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LU - Lussemburgo 1
LV - Lettonia 1
MK - Macedonia 1
MX - Messico 1
PA - Panama 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TN - Tunisia 1
Totale 12.998
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Città #
Chandler 1.388
Dublin 1.384
Jacksonville 1.025
Nanjing 825
Ashburn 351
Nanchang 336
Beijing 260
Princeton 249
Lawrence 241
Shenyang 240
Medford 232
Wilmington 226
Hebei 222
Changsha 218
Ann Arbor 202
Jiaxing 189
Boardman 156
Tianjin 138
Helsinki 135
Hangzhou 130
Shanghai 104
New York 95
Woodbridge 92
Milan 90
Pavia 59
Verona 50
Brussels 40
Norwalk 39
Houston 36
Singapore 35
Seattle 34
Toronto 33
Los Angeles 24
Jinan 20
Des Moines 19
Fairfield 19
San Francisco 19
Auburn Hills 18
Kunming 18
Taizhou 17
Tokyo 16
Chicago 14
Ningbo 13
Zhengzhou 11
Washington 9
Fuzhou 8
Haikou 8
Guangzhou 7
Lanzhou 7
Melbourne 7
Andover 6
Auckland 6
Berlin 6
Orange 6
Changchun 5
London 5
Pune 5
Redwood City 5
Seville 5
Tappahannock 5
Bergamo 4
Brno 4
Dhaka 4
Florence 4
Hanover 4
Kish 4
Munich 4
Poggio Chiesanuova 4
Zurich 4
Amsterdam 3
Borås 3
Caccuri 3
Canberra 3
Castelmassa 3
Cernusco sul Naviglio 3
Cullman 3
Cuneo 3
Dearborn 3
Falls Church 3
Goito 3
Henderson 3
Leawood 3
Napoli 3
Padova 3
Rome 3
Sydney 3
Udine 3
Cairo 2
Cambridge 2
Canelli 2
Cedar Knolls 2
Dallas 2
Dunedin 2
Falkenstein 2
Frankfurt am Main 2
Fremont 2
Markham 2
Ottawa 2
Palermo 2
Perth 2
Totale 9.278
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Nome #
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 116
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 94
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. 93
Rischio di ricorrenza di Sindrome di Turner. 92
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 86
Bioinformatic Analysis of Pathogenic Missense Mutationsof Activin Receptor Like Kinase 1 Ectodomain 84
Enzyme replacement therapy (ERT) in adult-onset type II glycogenosis (GSDII) 82
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. 82
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. 80
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 79
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 79
Clinical, genetic amd immunologic analysis of a family affected by Ozena. 78
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 77
Early onset of gastric carcinoma and constitutional deletion of 18p. 77
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 77
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. 76
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro". 76
Dietary treatment in adult-onset type II glycogenosis. 76
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 76
A novel mutation and novel features in Nijmegen breakage syndrome. 75
Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? 75
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 75
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 74
Six novel mutations in the PRF! gene in children with haemophagocytic lymphoistiocytosis. 74
Deficiency 10p. report of a case and exclusion mapping of the Hexokinase 1 locus to band 10p11.2 74
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 73
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 73
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. 72
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 72
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. 72
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 72
Angiotensin converting enzyme gene deletion allele is idenpendently and strongly associated with coronary atherosclerosis and myocardial infraction. 72
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia 71
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 70
Dietary treatment in adult-onset type II glycogenosis. 69
The angiotensin-converting enzyme insertion/deletion polymorphysm modifies the clinical outcome in patients with Pompe disease. 69
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 68
Clinical, genetic and immunologic analysis of a family affected by ozena 68
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 68
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations 68
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 67
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 67
Blood cell mitochondrial DNA content and premature ovarian aging 67
Familial hemophagocytic lymphohistiocytosis: how late can the onset be? 66
Does growth hormone treatment increase chromosomal abnormalities? 66
Smith-Magenis syndrome and growth hormone deficiency 66
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis 66
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 66
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. 66
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. 65
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 65
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 65
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 64
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement 64
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 64
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 64
Rendu-Osler-Weber patients have an increasd frequency of mature endothelial cells in peripheral blood 64
Pulmonary Langherans' cell Histocytosis 63
Mapping of genes predisposing to familial hemophagocytic lymphohistiocytosis (FHL) using linkage analysis. 63
Ten novel FBN2 mutations in congenital contractual arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 63
STRUCTURAL MODELLING OF ALK1 ECTO-DOMAIN 63
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization 63
Deletion of PAX9 and oligodontia: a third family and review of the literature. 62
Ptosis as a feature of late-onset glycogenosis type II. 62
Benign Hereditary Chorea: From clinic to basic research... and back ( Letter ) 62
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. 62
Pathogenesis of haemophagocytic lymphoistiocytosis. 61
Familial partial monosomy 7 suggests action of a mutator gene. 61
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 61
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene 61
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 61
Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome 61
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 61
Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease 61
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. 60
Novel MUNC 13-4 mutations in children and young adult patients with hemophagocytic lymphohistiocytosis 60
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome 60
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 60
Prenatal diagnosis of inborn errors of metabolism in the first trimester 60
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 60
Incidence of Shwachman-Diamond Syndrome in Italy. 60
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 59
Does growth hormone treatment increase chromosomal abnormalities 59
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 59
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 59
Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic teleangiectasia (HHT) as accessed by color Doppler sonography. 59
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 59
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. 58
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 58
Early-onset ptosis in type II glycogenosis 58
Partial duplication of the long arm of chromosome 7: increased activity of beta-glucuronidase 58
Hemihypertrophy and myelodysplasia. 57
Erratum: Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. (vol 17, pg 213, 2007) 57
Genotype-phenotype correlations in hereditary hemorrhagictelangiectasia: data from the French-Italian HHT network. 57
Outcome after Two Years of Enzyme Replacement Therapy (ERT) in 29 Patients with Late-Onset Type II Glycogenosis (GSDII) 57
Bioinformatics as a Starting Point for the Analysis of ALK1 Missense Mutations 57
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 57
The metacarpophalangeal profile in a family with congenital contractural arachnodactily. 56
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia 56
Natural history and outcome of hepatic ascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia 56
Totale 6.763
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Categoria #
all - tutte 46.414
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 46.414
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.328 960 1.365 3 160 8 163 52 164 23 262 163 5
2020/20211.631 184 134 59 168 18 224 20 234 86 240 208 56
2021/20221.117 16 9 21 14 16 20 19 75 48 32 176 671
2022/20233.893 382 290 68 317 435 401 7 203 1.615 44 94 37
2023/20241.216 156 201 31 96 116 331 24 119 12 31 48 51
2024/202571 71 0 0 0 0 0 0 0 0 0 0 0
Totale 13.194