IRIS
DANESINO, CESARE
 Distribuzione geografica
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Continente #
NA - Nord America 5.961
EU - Europa 4.458
AS - Asia 3.237
OC - Oceania 26
AF - Africa 10
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 6
Totale 13.705
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Nazione #
US - Stati Uniti d'America 5.908
CN - Cina 2.855
IE - Irlanda 1.387
UA - Ucraina 855
FI - Finlandia 593
DE - Germania 438
IT - Italia 378
SE - Svezia 357
SG - Singapore 312
GB - Regno Unito 241
FR - Francia 100
CA - Canada 51
BE - Belgio 43
AU - Australia 17
JP - Giappone 17
IN - India 16
NL - Olanda 14
ES - Italia 9
NZ - Nuova Zelanda 9
IR - Iran 8
EU - Europa 6
CZ - Repubblica Ceca 5
LT - Lituania 5
RU - Federazione Russa 5
AT - Austria 4
BD - Bangladesh 4
CH - Svizzera 4
MU - Mauritius 4
SM - San Marino 4
TR - Turchia 4
HK - Hong Kong 3
MY - Malesia 3
RO - Romania 3
AL - Albania 2
BR - Brasile 2
EC - Ecuador 2
EE - Estonia 2
EG - Egitto 2
IL - Israele 2
KR - Corea 2
LU - Lussemburgo 2
MA - Marocco 2
PK - Pakistan 2
SA - Arabia Saudita 2
TH - Thailandia 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BO - Bolivia 1
CO - Colombia 1
GR - Grecia 1
HU - Ungheria 1
ID - Indonesia 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
MK - Macedonia 1
MX - Messico 1
PA - Panama 1
PE - Perù 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 13.705
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Città #
Chandler 1.388
Dublin 1.385
Jacksonville 1.025
Nanjing 825
Boardman 407
Ashburn 354
Nanchang 336
Beijing 264
Princeton 249
Lawrence 241
Shenyang 240
Medford 232
Wilmington 226
Singapore 224
Hebei 222
Changsha 219
Ann Arbor 202
Jiaxing 189
Helsinki 150
Tianjin 138
Hangzhou 130
Shanghai 108
New York 95
Woodbridge 92
Milan 91
Pavia 59
Verona 50
Toronto 44
Brussels 42
Norwalk 39
Houston 36
Seattle 34
Los Angeles 28
Jinan 20
Des Moines 19
Fairfield 19
San Francisco 19
Auburn Hills 18
Kunming 18
Taizhou 17
Tokyo 17
Chicago 14
Ningbo 13
Zhengzhou 12
London 11
Frankfurt am Main 10
Dallas 9
Munich 9
Washington 9
Fuzhou 8
Haikou 8
Guangzhou 7
Lanzhou 7
Melbourne 7
Rome 7
Andover 6
Auckland 6
Berlin 6
Orange 6
Changchun 5
Florence 5
Pune 5
Redwood City 5
Seville 5
Tappahannock 5
Bergamo 4
Brno 4
Dhaka 4
Hanover 4
Kish 4
Nanterre 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
Falkenstein 3
Falls Church 3
Goito 3
Henderson 3
Leawood 3
Napoli 3
Ottawa 3
Padova 3
Sydney 3
Udine 3
Vienna 3
Bangkok 2
Buffalo 2
Cairo 2
Cambridge 2
Canelli 2
Cedar Knolls 2
Charlotte 2
Totale 9.802
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Nome #
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 126
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. 98
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 96
Rischio di ricorrenza di Sindrome di Turner. 95
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 88
Bioinformatic Analysis of Pathogenic Missense Mutationsof Activin Receptor Like Kinase 1 Ectodomain 87
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. 87
Enzyme replacement therapy (ERT) in adult-onset type II glycogenosis (GSDII) 86
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. 85
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 83
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 81
Clinical, genetic amd immunologic analysis of a family affected by Ozena. 81
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 81
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 80
Early onset of gastric carcinoma and constitutional deletion of 18p. 80
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro". 80
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 80
Dietary treatment in adult-onset type II glycogenosis. 80
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. 79
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 79
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 79
A novel mutation and novel features in Nijmegen breakage syndrome. 78
Deficiency 10p. report of a case and exclusion mapping of the Hexokinase 1 locus to band 10p11.2 78
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 77
Six novel mutations in the PRF! gene in children with haemophagocytic lymphoistiocytosis. 76
Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? 76
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. 76
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 76
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 76
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 75
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. 75
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 74
Dietary treatment in adult-onset type II glycogenosis. 74
Angiotensin converting enzyme gene deletion allele is idenpendently and strongly associated with coronary atherosclerosis and myocardial infraction. 74
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia 73
The angiotensin-converting enzyme insertion/deletion polymorphysm modifies the clinical outcome in patients with Pompe disease. 73
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. 72
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 72
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 71
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 71
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 71
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations 71
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 70
Clinical, genetic and immunologic analysis of a family affected by ozena 70
Does growth hormone treatment increase chromosomal abnormalities? 69
Smith-Magenis syndrome and growth hormone deficiency 69
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 69
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 69
Blood cell mitochondrial DNA content and premature ovarian aging 69
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 69
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. 69
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 69
Familial hemophagocytic lymphohistiocytosis: how late can the onset be? 68
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis 68
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 68
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization 68
Rendu-Osler-Weber patients have an increasd frequency of mature endothelial cells in peripheral blood 68
Mapping of genes predisposing to familial hemophagocytic lymphohistiocytosis (FHL) using linkage analysis. 67
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. 67
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 67
Pulmonary Langherans' cell Histocytosis 66
Deletion of PAX9 and oligodontia: a third family and review of the literature. 66
Ptosis as a feature of late-onset glycogenosis type II. 66
STRUCTURAL MODELLING OF ALK1 ECTO-DOMAIN 66
Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome 66
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement 66
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 66
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 65
Benign Hereditary Chorea: From clinic to basic research... and back ( Letter ) 65
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 65
Ten novel FBN2 mutations in congenital contractual arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 64
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 64
Pathogenesis of haemophagocytic lymphoistiocytosis. 63
Familial partial monosomy 7 suggests action of a mutator gene. 63
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene 63
Breast cancer and genetics 63
Enzyme replacement therapy in adult-onset type II glycogenosis 63
Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease 63
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. 62
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 62
Prenatal diagnosis of inborn errors of metabolism in the first trimester 62
Does growth hormone treatment increase chromosomal abnormalities 62
Early-onset ptosis in type II glycogenosis 62
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 62
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 62
Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic teleangiectasia (HHT) as accessed by color Doppler sonography. 62
Bioinformatics as a Starting Point for the Analysis of ALK1 Missense Mutations 62
Incidence of Shwachman-Diamond Syndrome in Italy. 62
Novel MUNC 13-4 mutations in children and young adult patients with hemophagocytic lymphohistiocytosis 61
Hemihypertrophy and myelodysplasia. 61
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 61
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome 61
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 61
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. 60
Erratum: Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. (vol 17, pg 213, 2007) 60
Genotype-phenotype correlations in hereditary hemorrhagictelangiectasia: data from the French-Italian HHT network. 60
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 60
Outcome after Two Years of Enzyme Replacement Therapy (ERT) in 29 Patients with Late-Onset Type II Glycogenosis (GSDII) 60
Partial duplication of the long arm of chromosome 7: increased activity of beta-glucuronidase 60
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 60
Totale 7.111
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Categoria #
all - tutte 56.351
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 56.351
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020832 0 0 0 0 0 163 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
2024/2025779 77 281 89 124 73 135 0 0 0 0 0 0
Totale 13.902